Busch Lab

ZMP

stab1l

Ensembl ID:
ENSDARG00000076484
ZFIN ID:
ZDB-GENE-050208-554
Description:
stabilin-1 [Source:RefSeq peptide;Acc:NP_001182543]
Human Orthologue:
STAB1
Human Description:
stabilin 1 [Source:HGNC Symbol;Acc:18628]
Mouse Orthologue:
Stab1
Mouse Description:
stabilin 1 Gene [Source:MGI Symbol;Acc:MGI:2178742]

Alleles

There are 16 alleles of this gene:

Allele Name Consequence Status Availability
sa32382 Essential Splice Site Available for shipment Available now
sa24084 Essential Splice Site Available for shipment Available now
sa31 Nonsense Available for shipment Available now
sa15222 Nonsense Available for shipment Available now
sa12102 Nonsense Available for shipment Available now
sa43775 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39359 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43774 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa29727 Nonsense Mutation detected in F1 DNA Not yet available
sa13932 Nonsense Available for shipment Available now
sa37438 Essential Splice Site Available for shipment Available now
sa32381 Nonsense Available for shipment Available now
sa24083 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa32382
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 221 2553 7 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10456151)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10316319
GRCz11 22 10346001
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAGTATGCGAATGTCTGCCTGGAAACAAATTTGGGCAAGCATGTTTAG[G/T]TATGTAGCATGTGCATACATAACACATACATTTAGCGTGTTTGTTTAGTG
Long Flanking Sequence:
TCTATGCAGCTTAAAGTGACATTTAAAGGCTGAACAAGGTTAACTAGGCAGGTTAGGGTAATTAGGCAAGTTATTGTATAATAATGCTTTGTTTTGTAGACTATTAAAAAAATATAGCTTATAGGGGCTAATAATTTTGACCTTAAAATGTTTTTTAAAAAATTCAAAACTTTTTTTACTGTAGCCGAAATTAAACAAGTAAGACTTTCTCCAGAAGAAAAAATATTACCAGACATACTGTGAAAATTTCCTGAATCTGTAAACATCACTTGGAAAATGTTTAAAAATAAAAATTTAATTAAAAGGGGGTTTAACAATTCTGATTTCAACTGTATATAATTCCAGTAAGTATCATTATACTGTTTTTGTTTGTTTCTTTTCTTGTGTAGTTTCTTCATCTTGTTCAAGCTGCCCACTCTACTCGTATTGTAAAGGAGATGATGACACAAATGCAGTATGCGAATGTCTGCCTGGAAACAAATTTGGGCAAGCATGTTTAG[G/T]TATGTAGCATGTGCATACATAACACATACATTTAGCGTGTTTGTTTAGTGTAAAGTGTGTAATTGTGGGGTAAAATATACAACTGAGACAGTATTTACATAAATTACACCGATTTCTGTAGATTTCAAGCAAATAGATCTGAACATTTGATTAAGCCAGGTAAGATATTGTAGCTTAATTTTATTTAAATACGGGAGTCAACTTTTTTTTAACTGAAGGAATTCGTGTATATATATTTATATTTTTTAATCCATCAACTTTAAAATGTTTTCAACAGGCAGAAAATAAAACATTTAACCAGGTTTTAGGTATAAAATGTTGAATAAAATTAAACAAACATTATTTAAGCAAACCCCTTAGTAAATATTATCAGAATGTATAAAGTAACTAAGTTATTAAGTTTGGTATATACAAGTGCTACTGAAGAAAACATTTGAGAAAGCAGGCAAAGCATAAAAAAATATTTTTAACCTGCAGTGTGTAAAATTTCAATTTTACAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24084
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 285 2553 9 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10453326)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10313494
GRCz11 22 10343176
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAGATTCAAATTCAATGTTGTTTTTGAGCTCTATGTGTTTCCTCTCCA[G/A]TCTAAATGTGTGTGTTTGCCTGGAATGGAGTCATCAGATCCATCCAAAGG
Long Flanking Sequence:
GTTTTATTCTGATCTACTTTCTCAAGGTTTTTACTGTGGGATTTTTTCATATGTCATTTGTTTAATTTTATTTAACTTATTATTTTCTGAAAACACTATAAATTAGGTTTTTTGTTTTTTTGCTATTTGTTTTTTGCAGCTTAACCACCATAGAAAACAGCCAATGTACCATTTCAGAACATTTTAATCTTTCATGACCATCATATGATTCTGTCCTTTTCCAGATGTGTGTCCAGAGGGCACTTGTGGCATAAATGCTAAATGTTTATCTAAAGATGATAAGTATAATTGCGAGTGTAAAGAGGGATTTGAGGGAGATGGCAAACACTGCATTCCCATCAACCCCTGCAAGACTAATAATGGAGACTGTCCTGTAACTTCCACCACCTGTGAACTCATAAGCCCAGGAAAGGTGAGCAGTGCACTGTGGGAATTAATTTAAACGTAATGTTTAGATTCAAATTCAATGTTGTTTTTGAGCTCTATGTGTTTCCTCTCCA[G/A]TCTAAATGTGTGTGTTTGCCTGGAATGGAGTCATCAGATCCATCCAAAGGATGCACACAGAAGTCAGCCTGCACAGCGAGTTCATGCCACACCAGTGCCCGCTGTGAGACCAATGGCGACGGCTCACCAAGGTCTGACCTGCTGTTTCCTGAATGATAACGTGATGAAGGCAATTTTCACTTCCTTCAGTGGCAAACTAATGACCGATAAAATCACACAAATCAGTCCAAAATATCACACAGTCTTAAAATCAATAGAAAAATACTTTAAACTACATTTGAATAAAGAAGTGTTTTTGAATTCTTGATATTTAAACACATTCTGCATCATAACTCACATTGCTGTGATCCATCTAAATTATTAAATCTAATCTAATCATTTGTTTTAAATGAAAGTCTGCATGAGATCAAATATACAATGTTTATTCTGACAGCACACTTTTTTTTTTTAACAAACTTAATCCACTGAAGAAATGACATGGCCGAGTGGTTAGCACTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 289 2553 9 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10453311)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10313479
GRCz11 22 10343161
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGTTGTTTTTGAGCTCTATGTGTTTCCTCTCCAGTCTAAATGTGTGTG[T/A]TTGCCTGGAATGGAGTCATCAGATCCATCCAAAGGATGCACACAGAAGTC
Long Flanking Sequence:
ACTTTCTCAAGGTTTTTACTGTGGGATTTTTTCATATGTCATTTGTTTAATTTTATTTAACTTATTATTTTCTGAAAACACTATAAATTAGGTTTTTTGTTTTTTTGCTATTTGTTTTTTGCAGCTTAACCACCATAGAAAACAGCCAATGTACCATTTCAGAACATTTTAATCTTTCATGACCATCATATGATTCTGTCCTTTTCCAGATGTGTGTCCAGAGGGCACTTGTGGCATAAATGCTAAATGTTTATCTAAAGATGATAAGTATAATTGCGAGTGTAAAGAGGGATTTGAGGGAGATGGCAAACACTGCATTCCCATCAACCCCTGCAAGACTAATAATGGAGACTGTCCTGTAACTTCCACCACCTGTGAACTCATAAGCCCAGGAAAGGTGAGCAGTGCACTGTGGGAATTAATTTAAACGTAATGTTTAGATTCAAATTCAATGTTGTTTTTGAGCTCTATGTGTTTCCTCTCCAGTCTAAATGTGTGTG[T/A]TTGCCTGGAATGGAGTCATCAGATCCATCCAAAGGATGCACACAGAAGTCAGCCTGCACAGCGAGTTCATGCCACACCAGTGCCCGCTGTGAGACCAATGGCGACGGCTCACCAAGGTCTGACCTGCTGTTTCCTGAATGATAACGTGATGAAGGCAATTTTCACTTCCTTCAGTGGCAAACTAATGACCGATAAAATCACACAAATCAGTCCAAAATATCACACAGTCTTAAAATCAATAGAAAAATACTTTAAACTACATTTGAATAAAGAAGTGTTTTTGAATTCTTGATATTTAAACACATTCTGCATCATAACTCACATTGCTGTGATCCATCTAAATTATTAAATCTAATCTAATCATTTGTTTTAAATGAAAGTCTGCATGAGATCAAATATACAATGTTTATTCTGACAGCACACTTTTTTTTTTTAACAAACTTAATCCACTGAAGAAATGACATGGCCGAGTGGTTAGCACTGTTGCCTCACAGCAAGAA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa15222
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 762 2553 22 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 Nonsense 60 556 2 15
Genomic Location (Zv9):
Chromosome 22 (position 10441150)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10301318
GRCz11 22 10331000
KASP Assay ID:
2261-6461.1 (used for ordering genotyping assays)
KASP Sequence:
AATGTGAAGCAGCGTTTACAGGTGTCGGTTGCCACCTCTGCTCAAACCCC[A/T]AAAAGCACGGAGAAAACTGTGACGAAGGTRAACTTRTAGACCTCATATAT
Long Flanking Sequence:
AAATATTTTGTAATTTTATTTACATTTTATATTACTTTTACATGACAATTTGGGAAAATATTTGCAATTTTTGCAATTATTTTTGTTATTTTATTTTACACAACAATTTAGGAAAATAATATTTCTATTCAATTTCGAAATATTTTGCTGAGTTTTAAATAAAGATTTAGGAAATATAATTCATTACCTATAATTAACATTTGTCGTAGACAACATTTGAGAAAATATTTAGGAGTTTTTATTTTTTTAATTTACTTTCAATTATTTCAAAAATTGTTAGCTAAACGCTTTGTTGTTTATATAAATATGCCAAATACTTTGCTTTTCTATTTTAACTTATTTAATTTTAGAGAAGCCTTTGGGTGTCTTTATTTACTTTTATATTTTTTATGATTATAATTTTCATTTGTCTGAAGTGCTTCGATGGCATTAATGGGAACGGCTCCTGTAAATGTGAAGCAGCGTTTACAGGTGTCGGTTGCCACCTCTGCTCAAACCCC[A/T]AAAAGCACGGAGAAAACTGTGACGAAGGTAAACTTATAGACCTCATATATTTCCTTCTACGGTTTCTGTTTCTAAATCATGATCAGCTTAACCCTTTGCTCTTGTTTCTGTAGACTGCCGCTGTGTTCATGGAGTGTGTGACAACAGGCCGGGCAGTTCAGGAGTTTGTCGGAGAGGATCTTGTTTCGAAGGATTTTTAGGGGAACTTTGTGACCAAACGGCCTCTGTCTGCGATTCAGACGGAGCCCTCCTGCACTGCCATATTCATGCCATATGTCTCTATGTCAAAGGACAAACCACGTTAGTGTTGCTTTTTTACCTGTAGATTATTGTAAACTGCAGTGAGATTTTTTTTGGTTTTATTTTATTTGTTTTGTTCAAAACGTTTTGCCAATTTTGTGGGGTTTATTTTTATTTTTTTTAAGTATTTTATTTTAAACAACAAGTTGGTAATAATTTTAATAAAACATTTTTGATAAACATTTGGCAGTTTTTATTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12102
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 933 2553 26 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 Nonsense 231 556 6 15
Genomic Location (Zv9):
Chromosome 22 (position 10434317)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10294485
GRCz11 22 10324167
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAATGAATGTAGCTGCAAGAAAGGCTACATGGGAGATGGTATCATCTGT[A/T]AAATYGTCAACCCCTGTTTGTCAGATAATGGAGGCTGCCATTCTTTGGTC
Long Flanking Sequence:
TACTGTATTTATCTGTCTATATATCGGTTATCGGCTTTCAAATGTAAAAAGTTATCGGTTATCAATATCTGCCAAAATTTCCATTTCGTTCTATCTCTAGGTGAAAAAGTCAGTAGTAATAGTTTATATGGGAGATATATTTTATTTATCGGTCTATATATTTGTTATTGGCTTTTAAAGGTAAAGAGTTATCGTTATCAGTATCTGTCAAAATTTCCATTTTGTTCCATCTCTAGGTAAAAAGGTCAGATATAATAGTTTACATGGGAGAGATATTGTATTTATCGGCCTATATATTGGTTTTTGGTTTACATCCGTGGCTGAAAGTCAATGTTAAACAGTTGTATTTTGTATTCTGTCTATATATTGGTAACTGGCTTTCAAATATATAGAGTCACCTGTAATGTTGGCAGTTTTATTTAATCATTTTTTCTACTTATTTTTCTGGTCAGAATGAATGTAGCTGCAAGAAAGGCTACATGGGAGATGGTATCATCTGT[A/T]AAATCGTCAACCCCTGTTTGTCAGATAATGGAGGCTGCCATTCTTTGGTCTGTATTTCATTTATGCAGGTTTATCTGTTAATATATATCTGTACATATCTGCACTATGGCAGAATTCTAATGTAAATGATAATGCTTCCAGGCCAAGTGTAAATTGACAAGCCCGGGAACACGTGAATGCACATGCCCAAGCGAATTTGAAGGCGATGGACTCTCGTGTTATGGAAATATGCTTGTGGTAAGATGAAGCATTTGTGTATCTATTTGATAATGTATTCAATTGTTTTAATTAGTTAAAAGTAAGTATGTTGTGCTTTGTTAATTCACATCTGGTTTTAAATAGCAAAGACGTACGTGTCAAAAAGTTTTATTTGACATGCAGAAAAAGATAAAAAGTTTGATGACCATTTCAAATAAAATTTGTAATTTTTTATATTTTAAAAAACAAAAAGTTATTTTTTTTACATTTTAAATTAAATTTGGGAAAATAATTGTCTTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43775
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 1039 2553 30 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 Essential Splice Site 337 556 10 15
Genomic Location (Zv9):
Chromosome 22 (position 10432036)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10292204
GRCz11 22 10321886
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTAATAGACTAAATGCCAAGAGATCATATTTGTGTGTGATTTCTCTCT[A/C]GAGTTCATTTTTTAGAGGGCATCTACACCTCTGAAGACTTGAGGCAGAAA
Long Flanking Sequence:
GAGGAGCTGGAGGAAGTGTCTAAAGAGAAGGAGGTCTGGGATTCTCTCCTAAGACTGCTTCCCCCGCAACACGGCCCCAGAAAAGCGTCAGAAAATGAATGAAGGAATGAATGAATGAATGAAATGACAGCAGTGAATCAGTCATTAAGAATATTTGAACTTGTTGGATTTTCTTGATGTATATTTGAGTATTTACTTAAATACATCCTCAATTAATCACTACGTTTATGAACTTTTATGAAAATATGAATATACAAACAATTAATATTCTACAACCTGTCTGTGTTTATCTGCAGAGGCACAAAGTGATTGAGACTGACAGCCAGGTCACAGCTTTAGTTCCATCCAAAGCTGCTTTCAAAAATCTCAGCGATTTAGAGGAGTCTTTTTGGTTTGATTATTACAGGCTGCCTCACCTTTTACAGTAAGTATTGAGGTTGAGAAATGATCGTTTAATAGACTAAATGCCAAGAGATCATATTTGTGTGTGATTTCTCTCT[A/C]GAGTTCATTTTTTAGAGGGCATCTACACCTCTGAAGACTTGAGGCAGAAAGCTGGTAAAACAGTTCAGACCATAGGAATGACTAAATGGGAGGTCCAAAGCAACGGCAGGGTGAGTTTCAAACAAACCTGCTGATAAATTTAACAATGCAAATTGGTCATCTTTAACTGCTGTTTGTGATATAACCTTTACACCCTTGCGTCTTTAGGAGCTCATGATCAGCAATGCGACAATTCTTGTTCCAGATATCAAGGCAATAAATGGGTGCATTCACATTATAGACACGGTAATGTCACTGTGCAACACCCAAGCAACAGCATGGCAACACCTCAAAACACGTAGAAGACCATAGCGATTACACAGCAACACAAATGAACAAATGAAAATACCCTAACAACAAAACAGCAACTTCCCTGCAGGCACAGGACGTCAACATAACTTCATATTGACATTGTACCCCAACGTCATAGGGGCCTTGGATTTTGTTTGGAAATTAAAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39359
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 1101 2553 31 69
ENSDART00000133363 None None 1219 None 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 Essential Splice Site 399 556 11 15
Genomic Location (Zv9):
Chromosome 22 (position 10431749)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10291917
GRCz11 22 10321599
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTCCAGATATCAAGGCAATAAATGGGTGCATTCACATTATAGACACGG[T/A]AATGTCACTGTGCAACACCCAAGCAACAGCATGGCAACACCTCAAAACAC
Long Flanking Sequence:
TATCTGCAGAGGCACAAAGTGATTGAGACTGACAGCCAGGTCACAGCTTTAGTTCCATCCAAAGCTGCTTTCAAAAATCTCAGCGATTTAGAGGAGTCTTTTTGGTTTGATTATTACAGGCTGCCTCACCTTTTACAGTAAGTATTGAGGTTGAGAAATGATCGTTTAATAGACTAAATGCCAAGAGATCATATTTGTGTGTGATTTCTCTCTAGAGTTCATTTTTTAGAGGGCATCTACACCTCTGAAGACTTGAGGCAGAAAGCTGGTAAAACAGTTCAGACCATAGGAATGACTAAATGGGAGGTCCAAAGCAACGGCAGGGTGAGTTTCAAACAAACCTGCTGATAAATTTAACAATGCAAATTGGTCATCTTTAACTGCTGTTTGTGATATAACCTTTACACCCTTGCGTCTTTAGGAGCTCATGATCAGCAATGCGACAATTCTTGTTCCAGATATCAAGGCAATAAATGGGTGCATTCACATTATAGACACGG[T/A]AATGTCACTGTGCAACACCCAAGCAACAGCATGGCAACACCTCAAAACACGTAGAAGACCATAGCGATTACACAGCAACACAAATGAACAAATGAAAATACCCTAACAACAAAACAGCAACTTCCCTGCAGGCACAGGACGTCAACATAACTTCATATTGACATTGTACCCCAACGTCATAGGGGCCTTGGATTTTGTTTGGAAATTAAAATCAGGTTGACGCCAGAACCCAACATCAGGCTGAAGTCAACGTCCAATGTTCAACCTAAAATCGACCAAATATACAAGTCTAATCATGTTACACCTTGACGTTACGTGGATGTTAACACTATGACATCTATTAGATGTCAGATTTTGGTCACTTTCCAAACACAGCCTAAAATTAACCAAATATCAACATAAATTGACCTTGTTATTGGACGTCAAAATAACTTTGTCCTTAGACGCTGGATAGACATTGAATTTTGGTTACCTAAAGTCATGATCTAAATTTAACCGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43774
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 2010 2553 56 69
ENSDART00000133363 Essential Splice Site 676 1219 19 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10415371)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10275539
GRCz11 22 10305221
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGGCTGTGAGCTCTGTCTCGCCAATCACTTTGGGCCAAACTGCACAGG[T/A]AATTCATTCAGGCCTTTATACAGTTGAAGTCAGAATTATTAGCCCTCCTT
Long Flanking Sequence:
GACTTTTTTATTTTCATTTGTTTAATCAAGTCAAACTAAGTTTTCTGCTGTAGTTATAAGATTGATCAGATTAATTGTCTTCTTACAGAACAGAACTAGCATATGCCGACAACCTTACAGACCATACCGAATGCCCAATTACTATGGTATGTACTCGTACGGTTACGGATACAGGTCCTACAGAGATTTTTTGGGTTGTGACCGGGTATGCACAAAATTGACGTGGGACACAAAGTGCTGTAAAAACCACTTCGGAAGAGACTGCCAGGGTGAGAATTTCGAAAACACACAATGAATAAGAGCTTGATTGAAAATTACATGTAAATAAGTGGTGTGTGTTGTGTTTTAGTGTGTTCTGGTGGTCTGGAGGCGCCGTGTGGAGAGCATGGAGACTGTGATGATGGACAGGGCGGCACAGGCGTGTGTAAATGTCATACAGGATTTACAGGCAAAGGCTGTGAGCTCTGTCTCGCCAATCACTTTGGGCCAAACTGCACAGG[T/A]AATTCATTCAGGCCTTTATACAGTTGAAGTCAGAATTATTAGCCCTCCTTAATTATTAGCCCTCTTGTATATTTTTCCCAAATTTTTGCTTAACAGAAGGATTTTTTAACACATTTCTCAACATAATAATTTTAATAAATAATTTCTAATAACTGATTTCTTTTAACTTTGCCATGAAGACAGTTGAGGATGTGACAAGATCTCGGGGTACAAGATCCCGTGAGATTAAATTACGACGAGATATCTTGTCACGGTGAAAAGTTGTCTTGTAAGTTTTGATGTTATGATGGAGCCTAAGGGTGAATTTAGCACTGATGATTGGAGGCAGGATTGGGTTTGAACCGCACATCAAGTGCTTTGCACACACCTGGCAACCCGGGCTGCCTCCGTGTTGTGTATCACTCGTTTGCTTGGGCGGGTGTGATGTAATCCTGTCTTCACCGAAGTTTAAAGGTTGTCGCGTCTAAAAGCAAAGGCTGCTACAATTGCTGCTATACAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29727
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 2035 2553 57 69
ENSDART00000133363 Nonsense 701 1219 20 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10411463)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10271631
GRCz11 22 10301313
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGATGAAGGCCTGGACGGTGACGGCAGCTGTTTTTGTCAGGAGGGATG[G/A]ATGGGTGAAAGCTGCCAGACAGCAATCGGTATGAACGTTAGTAGTGTTGT
Long Flanking Sequence:
GGGCTTAGTAAAATTAATCACATTTCAACCTGAATACAATAATATTTTACTTATCTTATTAGCAGACTATTTAGCTTGTTTTACAGGAATGGTCACTTGATTTAGACCTCTTATGTCTGAAAACTAAAATTATTTTAACATGTCTAGAAAGTGCTTCTTTTTTCATGAATTTCTAGATATTTGGACTATAAACAAGACAAAAAAAAAGTCGCAGTGCAGGACAATTTATAAGAATTTAGCAACTACACTGTCATACTTAATAGTGATAATATTTAATAAGCCAACAAATGATTCTTGATAGAAATTTGCTTGACAAGCCGCCATATAAATGAAACTACACTGCTACACTGAATGGTATTTTTCTAGAGTGTAAATCATAGTCAAATTGTACCTTGTTTTTTTGCTGCTCCTCTTTTTCTCACAGCGTGTAATTGTACGATCCACGGCAAGTGTGATGAAGGCCTGGACGGTGACGGCAGCTGTTTTTGTCAGGAGGGATG[G/A]ATGGGTGAAAGCTGCCAGACAGCAATCGGTATGAACGTTAGTAGTGTTGTCGCTGCTGTTTCACAGATCTAATATACTGATACACATGAGATTTCTTCCCTAATTATTTACATTCACAGACAAAATTAACACTTTGTAAAGTGTGTGGTGTGTCAACAGTTGGTGTGAAAGAAAACTTTTGCTGGGTTTAATACTAAGTGCGGTTTGGTTTAATACTGCATTAGTTTAAAAAGTTAAATTGTTTTCTGATATTTGCATAGTAGGTTTATGGCTTCAGTAGGTTCCAACTAAATCTCCAAAAGTGGCTTCATAAGCTCATTTATTACTTAATAAAAAAACTCATGAAATCAGGAGGTCCATGATTGACCATATATGGTTTGTGTTTTGAATATTAACACACACATGACATGATGTACGCTGAACAAGGACATATATAAAGCCGACGAGAGTATTGTTTTTTGCTCACCAGATAAAGGCTAAATTACAATTAAACTTGACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13932
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 2107 2553 59 69
ENSDART00000133363 Nonsense 773 1219 22 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10403288)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10263456
GRCz11 22 10293138
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GRTTGCCATGAAGAAGCCGACTGTATGCAGTCAGGTATCAACATTACCTG[T/A]TCCTGTCAGACGGGATACTCCGGAGACGGACATGTTTGCGAGCCTATTAA
Long Flanking Sequence:
TGTATACATTTTCAGTCTTATTGTAAATTATTTCCAATAAAAACAATTAAATCTGGTGTTACATTTATGTGAATTGTTATTTACAGGGTTAGTTCACCCAAAATTTCAATTCTGCTCATCCTTTAATTGTTTCAAAACCTTTGTGAATTTCTTCCTTCTGTTCAACACTGAAGAAGATATTTTGAAAAGTGTTGTAAAACTGTAATCATTGACTTCCAAAATATTTGGAAGTCAACGGTTACAGGTGTCCAACATTCTTCAAAATATCTTGTTTTGGGTTTAATAGAAGAATCTTATAAAGGTTTTGAACCACTTAAAGAAGAATACATTTTCTTTTCTTTTTCTTATTTTGGCTGAACTCTTGCTTTAATTTTACACATTCACCAGAAGAATTCATAGAAATCACATTTTGTTTTTGCAGCTCCGGATCTTTGCAGTGAATATAACGGAGGTTGCCATGAAGAAGCCGACTGTATGCAGTCAGGTATCAACATTACCTG[T/A]TCCTGTCAGACGGGATACTCCGGAGACGGACATGTTTGCGAGCCTATTAACCGATGTGTAGAGGAGGCAAATGGCGGCTGCAGCGATTTCGCAAAATGTATTTTCACCGGACCCGTATGTCAAACATTATTATTTTTTTGTTATAATCAAGCGAACATTTTTATGTATAAATGTTTAACACATTGTAACCTACGACAGAACGAGCGGCGCTGTCAGTGTCTCGATGGCTATGTGGGAAATGGAGTCCAGTGTTTGGAGAAAGTGGTTCCTCCTGTTGATCGATGCCTGGAGGATAACGGCGGCTGCGACCCAAAGGCGATATGCAGAGACCTTCATTTCCACAGTACTCACTTGCTGATATAATTAACTCTTTAATTATGCCCTAATATTATAAGCATTAATAGCAAGTCACCACAAGAAAATTGGGAAAACAAATAACTAAAACATTTTGACTCAGTTGCTTGATTGGACTGACAATTGGAACCATTTTTATATTACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37438
Status:
Available for shipment
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Availability:
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 2193 2553 60 69
ENSDART00000133363 Essential Splice Site 859 1219 23 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10402944)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10263112
GRCz11 22 10292794
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACGGCGGCTGCGACCCAAAGGCGATATGCAGAGACCTTCATTTCCACA[G/A]TACTCACTTGCTGATATAATTAACTCTTTAATTATGCCCTAATATTATAA
Long Flanking Sequence:
TTATTTTGGCTGAACTCTTGCTTTAATTTTACACATTCACCAGAAGAATTCATAGAAATCACATTTTGTTTTTGCAGCTCCGGATCTTTGCAGTGAATATAACGGAGGTTGCCATGAAGAAGCCGACTGTATGCAGTCAGGTATCAACATTACCTGTTCCTGTCAGACGGGATACTCCGGAGACGGACATGTTTGCGAGCCTATTAACCGATGTGTAGAGGAGGCAAATGGCGGCTGCAGCGATTTCGCAAAATGTATTTTCACCGGACCCGTATGTCAAACATTATTATTTTTTTGTTATAATCAAGCGAACATTTTTATGTATAAATGTTTAACACATTGTAACCTACGACAGAACGAGCGGCGCTGTCAGTGTCTCGATGGCTATGTGGGAAATGGAGTCCAGTGTTTGGAGAAAGTGGTTCCTCCTGTTGATCGATGCCTGGAGGATAACGGCGGCTGCGACCCAAAGGCGATATGCAGAGACCTTCATTTCCACA[G/A]TACTCACTTGCTGATATAATTAACTCTTTAATTATGCCCTAATATTATAAGCATTAATAGCAAGTCACCACAAGAAAATTGGGAAAACAAATAACTAAAACATTTTGACTCAGTTGCTTGATTGGACTGACAATTGGAACCATTTTTATATTACAATTAATTTTTTTAACATGGAAAAAAATGTGCATGATAAAAAATGCTGGGTTATTTCAACCCAATTCTGGGAATAATCTGAACTAAACCAACTGCTGGACTTATTTTTGAAATTAAACTAATAAGATCAAAATGAATCCAATGTTTTTGCCAGTACTGGGATGCGACTCTGCTGTGTAAAACATATACCAGAGTAGTTGCCGCTTCATCCTGCTGTGGTGATCCCTGATAAATTGAAGGAAAATTAATAAATGAATGAATGATTAATCCAATGTTTGATTTAGTCCATATTTTACCCAATTTGGGTTTAATTAACCCAGCATTTATTAGAGTGTGGCATTATCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32381
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Nonsense 2209 2553 61 69
ENSDART00000133363 Nonsense 875 1219 24 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10401858)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10262026
GRCz11 22 10291708
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGCGAAAACTGCAGGTGTTTTCCATCTGCGCTCACCTGAGGGAAAGTA[T/G]AAAATGAACTTCACGCAAGCAAAGCAGGCTTGTGAAGCAGAGGGAGCCAA
Long Flanking Sequence:
ACTTATCCAGCATATGTTTTACAAAACGGAACACCCATGCAAACACGGAGAAAACATGCAAACTCCACACAGAAATGGCAACTGGGATTCGAACCAGCGACCTTCTTGCTGTGAGGCAACAGTGCTACCACTGAGCCACCGTGTTGCCTTATTATACAGTAGTTTGGATAGATTTCCAAAACTCAAACATAGATGGGATATTTTTCTTTTGTTGACATTTTTTTTCCTTATTGTGTCTTTCCTTAAAAACATGTTCACAATGATTTAGAAATAATATATACCTTTACCTTTAATTGACAGATAAAATGTGGCAAAATAAAAACTTCAAATTTGACTCTGGATGTTTTATTTCCCTAAAATTTTTATTTTTAAATCCCAAAAATCAGAATCAACATGAATGTTTTCCCTGTAGTGCCTTGCTGTAACAATAAAGGCTTTTGTTCTTCTGTTTCAGCGAAAACTGCAGGTGTTTTCCATCTGCGCTCACCTGAGGGAAAGTA[T/G]AAAATGAACTTCACGCAAGCAAAGCAGGCTTGTGAAGCAGAGGGAGCCAATCTTGCCACGTTTTCCCAGCTCTCTGATGCCCAACAGGTGATTTTTGGTGAATTTGTGCTTTTAAAATGCAATTATTAAAGAGATAATTTAATATTAATTACTCATGCTCATGTTGTTTCAATCCTCTGAGACCTTCGTCCATCTTCTGAACACAAATTAAAATATTGTAGGTGAAATCAAAGAGCTCTGTCATCCTCCATAAACAGCAATGGTCCTGAGACATTCAGAAGAGGAACCAAAACAATCGTCAAAACCGTCCCTGTGCATTGATTTTATAATTTCCTGAATCTACGAGAATACTTTTGTGCGCCAAAAAAACGTTCCTTGCCTGTGTTGTCCATGTCAGATCAAGGTCTGAGTTTACTATGGGCAGAACTATGTATTGTCAGCAGCACAAAACGTAAGCATAGAAACATGCTAACAACAAGGTATTTGTGCTAGAAACATGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24083
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092050 Essential Splice Site 2238 2553 61 69
ENSDART00000133363 Essential Splice Site 904 1219 24 32
ENSDART00000142939 None None 91 None 3
ENSDART00000147096 None None 556 None 15
Genomic Location (Zv9):
Chromosome 22 (position 10401769)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 10261937
GRCz11 22 10291619
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGGGAGCCAATCTTGCCACGTTTTCCCAGCTCTCTGATGCCCAACAGG[T/C]GATTTTTGGTGAATTTGTGCTTTTAAAATGCAATTATTAAAGAGATAATT
Long Flanking Sequence:
CGAACCAGCGACCTTCTTGCTGTGAGGCAACAGTGCTACCACTGAGCCACCGTGTTGCCTTATTATACAGTAGTTTGGATAGATTTCCAAAACTCAAACATAGATGGGATATTTTTCTTTTGTTGACATTTTTTTTCCTTATTGTGTCTTTCCTTAAAAACATGTTCACAATGATTTAGAAATAATATATACCTTTACCTTTAATTGACAGATAAAATGTGGCAAAATAAAAACTTCAAATTTGACTCTGGATGTTTTATTTCCCTAAAATTTTTATTTTTAAATCCCAAAAATCAGAATCAACATGAATGTTTTCCCTGTAGTGCCTTGCTGTAACAATAAAGGCTTTTGTTCTTCTGTTTCAGCGAAAACTGCAGGTGTTTTCCATCTGCGCTCACCTGAGGGAAAGTATAAAATGAACTTCACGCAAGCAAAGCAGGCTTGTGAAGCAGAGGGAGCCAATCTTGCCACGTTTTCCCAGCTCTCTGATGCCCAACAGG[T/C]GATTTTTGGTGAATTTGTGCTTTTAAAATGCAATTATTAAAGAGATAATTTAATATTAATTACTCATGCTCATGTTGTTTCAATCCTCTGAGACCTTCGTCCATCTTCTGAACACAAATTAAAATATTGTAGGTGAAATCAAAGAGCTCTGTCATCCTCCATAAACAGCAATGGTCCTGAGACATTCAGAAGAGGAACCAAAACAATCGTCAAAACCGTCCCTGTGCATTGATTTTATAATTTCCTGAATCTACGAGAATACTTTTGTGCGCCAAAAAAACGTTCCTTGCCTGTGTTGTCCATGTCAGATCAAGGTCTGAGTTTACTATGGGCAGAACTATGTATTGTCAGCAGCACAAAACGTAAGCATAGAAACATGCTAACAACAAGGTATTTGTGCTAGAAACATGCTAACAACATGTTAATTCATGTCTGCTGCAAGCTGAAAATGTTAATTCGTGCTAATAAGCTAATCCCACCTATCAACATGCAAATTCATA
Associated Phenotype:
Not determined