Busch Lab

ZMP

ENSDARG00000012982

Ensembl ID:
ENSDARG00000012982
Human Orthologues:
AL929601.1, NF1, NF1P4, NF1P5
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9IYV8]
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
neurofibromin 1 pseudogene 4 [Source:HGNC Symbol;Acc:7769]
neurofibromin 1 pseudogene 5 [Source:HGNC Symbol;Acc:7770]
Mouse Orthologue:
Nf1
Mouse Description:
neurofibromatosis 1 Gene [Source:MGI Symbol;Acc:MGI:97306]

Alleles

There are 12 alleles of this gene:

Allele Name Consequence Status Availability
sa22673 Nonsense Available for shipment Available now
sa848 Nonsense Available for shipment Available now
sa10931 Nonsense Available for shipment Available now
sa22672 Nonsense Available for shipment Available now
sa32043 Nonsense Available for shipment Available now
sa35918 Nonsense Mutation detected in F1 DNA Not yet available
sa39057 Nonsense Mutation detected in F1 DNA Not yet available
sa22671 Nonsense Available for shipment Available now
sa35917 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39056 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22673
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 147 2805 4 58
Genomic Location (Zv9):
Chromosome 15 (position 30264972)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31086679
GRCz11 15 30967420
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCACTCAGCTGCGCAGCTCCGCCTCTGCTGTGCTTTTCTCTCTCAGCTG[C/A]AACAACTTTAATGCCGTCTTCAGTCGTATCTCCACCAGGTACCTCTCTAA
Long Flanking Sequence:
GATCCACTAATGTGTTTGCTGGGTGGTCTGTCATTGGATTTCATTACTGTTTGCTTCCCCCTTTCCTGCTTTCTACTAATTCAGACGCTTTTTCTACTCAGTGAAGTACATTTAAGTCAGGTTACTTGATACGTTTACAGGTCAGTTTTACTATTCTGACAAATGTTATCCACTTAGAGCTAGAGCTTCTTATTTTTATGCTTCTTTTACAAATGCATGGCAGATCCCTCAACAGTAAACTAAATTACACAATAAGGATAAGCTTTTACAATCCAATGGTTGAATAAGTTGGATAATACACTGTCAAAAAGAGAATATAAAATATGCTGTGTTTATGTGCATCATCAGCAACCTAAGGATTGCCTGAGGCTGGATGAGGCTATGTTGGTAAAACAGTTGCTGCCTGAAATCTGTCACTTCCTGCACTCGTACCGTGAGGGCCAGCAACACGCCACTCAGCTGCGCAGCTCCGCCTCTGCTGTGCTTTTCTCTCTCAGCTG[C/A]AACAACTTTAATGCCGTCTTCAGTCGTATCTCCACCAGGTACCTCTCTAACACAATGGGGGTTCCACAAGGCTTTGTTCTAGGACCTTTCTTATTGTGTAGAAATAGCTAATTTTAAATAAACTAAATATAAAGTCTATTGTACAAAGCTATTGTGGTTTGTTGTCTACTAAAAGAACCATTAAATATTATCAAATCATTGATGTTAATCTACCATTGTCTTGTTATAGGTTGCAAGAGCTCACAGTTTGTACAGAGGACACAGTGGATGTCCATGACATTGAGCTCATTCAGTATATCAATGTAGATTGCTCCAAGTTAAAGAGACTCCTACAAGGTAATGCATTCTCTAGTTTTTTTTTTTACCTTCGTGATCCACATATGTGTTGGTATAATGCATTTAGAGTAATCTTAAGTAATGTAAATCTAAAAAAATATGTAATACACTAGAACTAACTAGAAGGCAGTCATTTTGATAGATTTGTTTTTTATTAACTTTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa848
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 316 2805 9 58
Genomic Location (Zv9):
Chromosome 15 (position 30260710)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31082417
GRCz11 15 30963158
KASP Assay ID:
554-0751.1 (used for ordering genotyping assays)
KASP Sequence:
CATTTGTAGACAGTTTACGAAAGGCTCTTGGCCAACACAGCGGCAGCAAA[C/T]AATTGACGGAAAGTGCAGCTGTTGCATGCGTCAAACTCTGCAAAGCCTGC
Long Flanking Sequence:
TTATACAACTCAGAATTATTATCTCGCTGTATATTTTTTCCCCATTTCTGTTTAACGGAAATAATACTTTTTCAACACATTTCTAAACATAAGTTTTAATAACTCATTTATTTGGCAGCACATAATATTTTACTAGATATATTTCAGGAAACTAGGCCAGAAAAAAGTCATTGTAGCGGTTTGTTCAGTAGACAATCGACAAATATATATATTTATATAGTAATATTGACCTTAAAATGGTTTTAAAAAATTTTAAAACTGCTTTTATTCTAGCCAAAATATAATGCATAAGACTTTCTCCAGAGAAAAAATGTTGTCAGACATACTGTGAAATTTTTTTTTTGCTCCATTAAATATCACTTGAGAAATATTTGAAAAATAAAAAATATTTCACAGGATATTGCATTGATGACAAATCTTATTTGTTTGTTTTTTTTCATCAACAGAAGTCATTTGTAGACAGTTTACGAAAGGCTCTTGGCCAACACAGCGGCAGCAAA[C/T]AATTGACGGAAAGTGCAGCTGTTGCATGCGTCAAACTCTGCAAAGCCTGCACATATATCAACTGGGAGGATAATTCTGTCATCTTTCTCCTGGTTCAGTCCATCGTCATGGACCTTAAGGCAAGGATGTACATTGTAAATTAATAAATATGGTGTCCATAGAGAAAAGGAAGTATGAATTGAACAAGAGGTGTTTAAATTCTCTCTCTCTTTTGTCTTTCAGGGTCTCCTGTTTAACCCCACCAAACCTTTCTCAAGAGGTACGGGCTGCCAGAGCGCCGATGTAGATTTGATGATCGACTGCTTTGTGTCATGTTATCGCATCAATCCTCGCAACAACCAGCATTTTAAGGTAAGTTTGGTCACTAAATCTTAGGGAAATTTCTTAGGAATTCAGTATCCAATATCTTAAAGACATTTTTATATTATTACTATCAAAACATACTACGATAAAGGGAAGCTGTTTTCACATATTTTTAATTAGAGAGATATGTAAAAATA
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:
sa10931
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
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 479 2805 13 58
Genomic Location (Zv9):
Chromosome 15 (position 30258273)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31079980
GRCz11 15 30960721
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTTTATTACTTGCAGAGTTTGACATTCAAAGAGAAAATGACAACAAGTT[T/A]GAAGTTCAAGGAAAAGTCCACAGATCTTGATTCGCGTTCTTTGCTGCTGG
Long Flanking Sequence:
TTTGTATACAGACACTAAATTAACTACCAATAAAATATTTCTACCAATAAAATTATTACAATTATGATTATAATTTCTATTATGACTGTTTACTGTAATGTTAAAAATTCCATCAGCCTTCAAGTGACTGTATTAAAAATCACTGAATTTACAACATCTTAAGTTTATGGTCTGCACTGTACCTTTGCCAGTTGTTGCTTATTAATGTCTCGCGCTCATGTTTCTAGTCTCACCTGGACTGGTGGCCGAAGATTGACGCCATCTACTGCTACTCAGGAGAACTACGCACCATGTTTGCAGACACACTGGGTCGAGTGATTCAGAGTCTCAGTGCACATCCGCCTCTGAGGATGACATCAGTGAGACATGCTTAAATACTACACATTAAAATGCATACAGTCTATTACGTATAGAAAAACAAACACTGGACTTTGCATTGGTCAAAGTGGCATTTTATTACTTGCAGAGTTTGACATTCAAAGAGAAAATGACAACAAGTT[T/A]GAAGTTCAAGGAAAAGTCCACAGATCTTGATTCGCGTTCTTTGCTGCTGGCACTGGTCAAACTTATCCACGCTGACCCCAAACTAATGCTGCACGTGAGTATATAAGCCTGCTATATGGATTAAAGAGTTTTTAAATGTAATCTAAATAATCAATAATGATCAATGGTTAATAATCAAAATAGGTCAAATCTCTATGCTTTCAAGTTAAAAGGTAGATTTTTGTAGAAATGAGACGGTTAAACTACTTGTTTTTTGGGTCAAGAATATGAACATTTCGCAAATGTGTGGTATAATGTAAATGTAATTATTACTAGTTATCAAATTTGTATTGAGTAACATCTTTTAGCAGCTATTTTCCTTCACAAAATATTTTTATTTTTATTTTATTCACATAATTTTAAATGATGGAGCAGGTCTTGTTCCCTGACTGGGGAAAACAATGACATAATTAAAACTCTTTAAATGTGATTATGAATGTTACAATTTCAAATAAATCTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22672
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
ENSDART00000080328 Nonsense 700 2805 20 58
Genomic Location (Zv9):
Chromosome 15 (position 30252855)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31074562
GRCz11 15 30955303
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGGTGTGTCTGTACACGTTCCTGTGGAGTCCTGATGCAGAGGCTGTTT[T/A]GGTGGCCATGTCCTGTTTCAGGCATCTCTGTGAGGAGGCCGATATTCGCT
Long Flanking Sequence:
TTTACGTATACATTTTTTTAGTACCCAGTTGAAATTAATGTGCATGCGTTTGCTAAATTATTTTGTAAGATAAATTTTAGGCAATCATATTTAGTTTTGTAATTTAAATCATTAAAATTATAAATTTAAAATATATTTCTGAAAATGTCTCTTAAATGTTGAACATCCAGATATAAAATGTGTGGTTCAAATAGTTTTTCATTTAAAAAAAAATCACCTTATTGTAGGATCAGACTTTTACAATGATATTCTCAAATCAAATTGTTATGCATAATTATTTATAAATTAACCATATGCCTGTATCAGTTCTTTTTAAAATCATAATTCAAAATAGAAGTCTGAACAAAATAACAATTGCCCGTCCAGATAAAACAAGCTCATTTCCTCCACACAGGAGTGTGCTACACAGGGCAGTCTGATCCCCATCAGCAGACAGGCTCAGACCAAGCTGGAGGTGTGTCTGTACACGTTCCTGTGGAGTCCTGATGCAGAGGCTGTTT[T/A]GGTGGCCATGTCCTGTTTCAGGCATCTCTGTGAGGAGGCCGATATTCGCTGCAGTGTCGATGAGCTGCCTGTTCACACAGTCCTACCCAATTACAACACCTTCATTGAGCTTGCATCCGTCAGCAATATGATGGCCACAGGTCAGTGAATGCTGGATTTATTATTGCCAGACACTGTCATTTTTATTTATTTTTTGGAAATAAATATGGAACGATCAGTGATCTGAGGTTTTGTAAGGCTGCATTTACACTGCAGATCTTGTTGGTCAATTCCGATTTTGTGACTGCATCCGATTTTTTTGATGGTCAGATTTTTCCGATCTACTTGCTTACACTGCAGACATGAGGGCACAGATCTGATTCATATCGGATAAATTGCCACATATGAACAAGGCCTGAATCTGAATTGATTAAATCGTAATCCATGTGATTTGTTCCTGCTTACACATACATGGGCCACATCCGATCTGTGCCACATGGGAGAAAAAAAATCAGAATTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32043
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
ENSDART00000080328 Nonsense 1244 2805 29 58
Genomic Location (Zv9):
Chromosome 15 (position 30240799)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31062506
GRCz11 15 30943247
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCTGGCCAGAGTGTTAGTGACTCTCTTCGACTCTCGCCATCTGCTGTA[T/A]CAGCTGTTGTGGAATATGTTCTCCAAAGAGGTGGAGCTGGCAGACTCAAT
Long Flanking Sequence:
CATTATTTTTGTCTGTGCACTAATAATAAGCATATTTAGAAAAAAAACATCTCTTTCCCTGAAAACGTTTGCCAAAGAGATCTAATAGTGATTGGTTTTTGGTACCTTCAAAATGTGTTTTATTTGTTTCACAGAAAGCAAGGAAGTCATATTGGTTTTTGAAAGAATAGTTCAACCAAAAGTGAAATTCCTGTCATTTACTCGTGCTAAAGTTGTTCAGAATATGTATTAATTTCTTTATTTTGCAGTGTTTTTGTTCTTGTCTATAGAAGTCTGTGGGTACCTTAAACTATATATAATATATCAGTCTTACATGTTTGTAACAGCTTAATGGCAAATAAATGCTGACAGATTTCTTTTTTTATATCTCATGTTTAGCTCACAATGCATGGTAAGTATTGTTGGTCATCGGAGTGCTGTTGTGCTTAATGTTGTGCTGGTTTTCAGGATGAGCTGGCCAGAGTGTTAGTGACTCTCTTCGACTCTCGCCATCTGCTGTA[T/A]CAGCTGTTGTGGAATATGTTCTCCAAAGAGGTGGAGCTGGCAGACTCAATGCAGACGCTCTTTAGAGGAAATAGCCTAGCCAGCAAGATTATGACCTTCTGCTTCAAGGTGACGTGAAGCGGTGACAGTCATTCCATGAGTTCAGCCTTCATTGTTTTGCATGAGTTACCGCACTCCAATGCAAATTCCCTTCAAATCTGGCACTGTGTTCGCAGGTGTACGGAGCTGCGTATCTACAGAAGCTTCTGGAGCCGCTGTTGAGAGGAATCATCACTACACCAGAGTGGCAGCAGATCAGTTTTGAAGTGGACCCTACTAGGCACGTTTACCTACTTAAAGGAATATTTCACCCCTAAAATTAAAATTTGATATTAATTTATTACCACTCAGGCCATTTAAGACTTGTCTGTCTGTCTGTCTATTGTTCTATCTTTCTGTCTGTTTGCCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35918
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 2090 2805 42 58
Genomic Location (Zv9):
Chromosome 15 (position 30191800)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31013507
GRCz11 15 30894248
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACGTCGTCACCCTGCTGGTGGCCACGGGCCCTCTCTCGCTGCGTGCAT[C/A]AACACACGGCCTGGTCATCAACATCATTCACTCGCTCTGCACATGCTCAC
Long Flanking Sequence:
GTTCCTGTCACAGTGCCTGACTTTAATGGTATTTGTTTACCTGCAACTGACTACCAGTACCCTATTACTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATCAAAGAAAAGTCCCTAAAAGGTTTGGATCCACTTGAGGATGAGTTGATGATGAAAAAGTGGTGGTTGATGCCTTTTAACTGCATATTCGTCTCATTGAAGCTAAAATGTCAAGTAAAGTCAGAGTGTTTAATGTAACAGTACTTGCTTTGCTAAATTTGTGTCTCAGGTGATTGGCCGAATGTGTAAGATCATCGACAAGACGTGTCTGTCTCCCACTCCGACCCTTGAGCAGCACCTCATGTGGGACGACATCGCCATCCTGGCCCGGTACATGCTCATGCTGTCCTTCAACAACTCTCTGGACGTGGCCGCTCATCTGCCATACCTGTTCCACGTCGTCACCCTGCTGGTGGCCACGGGCCCTCTCTCGCTGCGTGCAT[C/A]AACACACGGCCTGGTCATCAACATCATTCACTCGCTCTGCACATGCTCACAACTCAACTTCAGTGGTAAGGAGCCACAAAAAAAAGCATTATTTAAAGAAATAGATCAAAATTAAAACGGTCTCATATTTGGAATAGTTAAAGGGTTAGTTCACTCAAAGATGAAATATAATAGTTTTTCTTCTGTTAAACAAAAATAAGGTATTTTGAAGATTTTTTTTTATTTTGTTCTTACAATCAATGTCAATGACTGCTGGTTTCCAACATTCTTCAGGATATCTTTCTTTGTATTATATTGAAGAAAGAACTTCATACATGTTTATAACCACTTGAATGTGATTGTGTTCATTGTGATTCAATTTGATTCTGATTGCATCACTTGGTAAATGGTAAGTCTTTTACAGCGATCGAGAGTTTATACTTTTGATTAAAACATCAGCATAATATTGTAATGTGTATTTATATAGAGCATGTAACGTGTATAGCCATACACCCTAAGCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39057
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 2232 2805 45 58
Genomic Location (Zv9):
Chromosome 15 (position 30186893)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 31008600
GRCz11 15 30889341
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGGGCGCTGGTGGTGTTCGGCTGCATCAGTAAACGAGTGACTCACGGA[C/T]AGCTAAAGCAGATCATTCGTATTCTCAGTAAAGCCAGTCCTCTACTCAGC
Long Flanking Sequence:
CCTTCTTGCTATGAGACGACAGCACTACCTACTGCACCACTTCGTCGCCCATTTAAAGACATATTTTACCTAAAACAGTCATGCACAGGATAGTATAACAATTGATTTGTTAAATATTTCAAGCTGAAATTACACAGGCCTTTTCTTGGACACTTCAGACTTGGAGGACACGTATTGTAAAATGGAATAATAGGATCCTCTTTAAGTCTAATGTACACTTTATTAAATTTACAACTTATTTAATGTATTTATTTTTACTCAGGCCTGCATGAGGGACATTCCTGGATGCAAATGGCTAGATCAGTGGACTGAATTGGCGCAAAAGTGAGTTGAAAACATTTTATGAGTGTTTTGTGAAACTGTAAACCACATTTCAATCATATTTAAATAACTAACTGTCATCTCCACTGTTGGATAGGTTTGCGTTCCAGTATAACCCCTCTCTTCAGCCTCGGGCGCTGGTGGTGTTCGGCTGCATCAGTAAACGAGTGACTCACGGA[C/T]AGCTAAAGCAGATCATTCGTATTCTCAGTAAAGCCAGTCCTCTACTCAGCATTGATCGGGTAAGCTCTGTCTCAGATTCTCTCTCTTAGACTGCCTCATTTTAGATTTGATTCTAGTTTGGTGGCATTGATCGTTTTTGGAAAATGACTCAACTGATATTTATGTTGTAATGTGGTCTGCTGACTTTTACTTCATTGATAATGCTTTTAAATACCATATCTTTGCACTACTCAGAACTTAAGATTCCAGTTAATAGACTTTCATAGCCATTAGCATTACAGTCTTAGCATTAAAGGGATAGTTCATCCAAAAATGAAAATTTATTCACTATTTACTCATACTCTGTTGCAAATCTTTATAAGTTTCATTCTCTTGTTGAACACTAAAGAAGATATTTTGAAGAAAGCTGAAAGTATGTAAGCAGTGACTTCCATAGTAAGAAAAACAAATACTATGAAAGTAAATAGTTAGATTTTCAACATTTTTCAAAACATCTTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22671
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 2482 2805 51 58
Genomic Location (Zv9):
Chromosome 15 (position 30177928)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 30999635
GRCz11 15 30880376
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCGAAAGTGTCAGAGCGCAGTCTTGCACCTCCGTACTCCACAATAGGG[C/T]AGACCAGCCTTCGTCCACGCAAATCCATGAGTGTAGACATGGGCCAGCCG
Long Flanking Sequence:
AAAACCAAACCCATCTTCTACTTTACTAATTATTATTATAGAGCTAATTGGTAGTTTATTAGGCTAGTAGTGTTTGTTAATAGTTAATGTTTTGAATTGTGACCTAAAATAGTGTGTTATCTTTCATTTTCATTGCAAAATCTAAAGAACGTTTCTGTTACAGCTTTGCTCACAGTGTCAGAGGAAGTTAGGAGCCGCTGCAGTTTAAAGCACAGGAAATCATTGCTGCTTTCAGAAGTTACAATGGAGAACTTCCCCATGGACACATACACCGTTTACGACACTGAACCCGGGTGCAGGTATGAAGTTTTTCCACTTTATTTTTTTCTCCATTCACTTGTATTTCCAACTATATCCTATTGTTTATTTGAATGGCTTTTTTGTTTTTGTTGATTATCACACTTATTTTTTAATGTGTCAGGCTACTGCGTGAAAACCAGCCTTGGGCTTCTCCGAAAGTGTCAGAGCGCAGTCTTGCACCTCCGTACTCCACAATAGGG[C/T]AGACCAGCCTTCGTCCACGCAAATCCATGAGTGTAGACATGGGCCAGCCGTCTCAGGCCAATGCGAAGAAACTACTGGGTATTAGCGGTCTGATGACTTTGTTCTCTAAAAGTGGATATTTTAAAATGCTGTAGCTTTAATTTGGCTTCGTACTTATGATTTGTTTTGGGGATTTTTGTCTTTATTCTAGGCACTAGAAAGAGTTTCGATCACTTAATATCAGAATCCAAAGCCCCAAAAAGACCAGACATGGAGTCGGGCATCACCACACCTCCAAAGATGAGGCGGGTTTCTGAAAATGACTATGAGATCGGTGAGTACTTATTGATTAGATGTGTGGTGCAACATTCCAGTGCTGAGGTTGGGTTTTAGAAGTAAACACACCTTCATTTTCTCCATAAAGAAATAGTTTATTTTAATTAATACATTTTTAAAGAAAAACCTGTTGTGAACTTTGAGGTTGTTAATTAGTTTGTTGAACGCACTTTTAAAACACGTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35917
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Essential Splice Site 2548 2805 52 58
Genomic Location (Zv9):
Chromosome 15 (position 30177614)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 30999321
GRCz11 15 30880062
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCACACCTCCAAAGATGAGGCGGGTTTCTGAAAATGACTATGAGATCG[G/T]TGAGTACTTATTGATTAGATGTGTGGTGCAACATTCCAGTGCTGAGGTTG
Long Flanking Sequence:
ACTTTATTTTTTTCTCCATTCACTTGTATTTCCAACTATATCCTATTGTTTATTTGAATGGCTTTTTTGTTTTTGTTGATTATCACACTTATTTTTTAATGTGTCAGGCTACTGCGTGAAAACCAGCCTTGGGCTTCTCCGAAAGTGTCAGAGCGCAGTCTTGCACCTCCGTACTCCACAATAGGGCAGACCAGCCTTCGTCCACGCAAATCCATGAGTGTAGACATGGGCCAGCCGTCTCAGGCCAATGCGAAGAAACTACTGGGTATTAGCGGTCTGATGACTTTGTTCTCTAAAAGTGGATATTTTAAAATGCTGTAGCTTTAATTTGGCTTCGTACTTATGATTTGTTTTGGGGATTTTTGTCTTTATTCTAGGCACTAGAAAGAGTTTCGATCACTTAATATCAGAATCCAAAGCCCCAAAAAGACCAGACATGGAGTCGGGCATCACCACACCTCCAAAGATGAGGCGGGTTTCTGAAAATGACTATGAGATCG[G/T]TGAGTACTTATTGATTAGATGTGTGGTGCAACATTCCAGTGCTGAGGTTGGGTTTTAGAAGTAAACACACCTTCATTTTCTCCATAAAGAAATAGTTTATTTTAATTAATACATTTTTAAAGAAAAACCTGTTGTGAACTTTGAGGTTGTTAATTAGTTTGTTGAACGCACTTTTAAAACACGTGAGTTTAATAAATTTGAATTCATGCCTTAAAGGGGACCTATCATGCCTCTTTTTAGAAGATGTAAAATAAATCTGTAATGTCTCTTAAGTGTATGTGAAGTTTCAGCCCAAAATACCACACGCATACTGTTTTTATAACTCATTGAAGCTGCCCCCTTTGATGCTTTGGTCAAAATTTTACTGTTTTGGTTACTGTCGCTTTAAATTTAAATGAGATTGTAGCAGGGTGGAGCTACAAACTTGTATGCATCAGCATAGCAGCAGATTATCATGTTATCTCTGTGTAAGACTGAACATGTCAAAAGAAGCTGCAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39056
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 2638 2805 55 58
Genomic Location (Zv9):
Chromosome 15 (position 30175165)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 30996872
GRCz11 15 30877613
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAGGCACAACCTGCTGGACTCCAAGTTAAGCACCGTCCTTTCCATGTGC[C/T]AGGACCCGAACCTTCTGAACCCCGTCCATGGCATCATTCAGAACGTGGTC
Long Flanking Sequence:
ACCCCAAGATCCAGACGTTGCTCCTCACTGTACTGGTTTGTAACATACTTGTGCTTTAAATCCCCCTGCGCATGACCTTTTAGTCTATATTGAATAAACTGTATATTACATGTTTAATGTAGAGCTGAAAAAATTGAGAGATCATTTAGTTTCTTCTACAATGCCAATTTTATACTGTATGTACTGTTATATTACAAACTATTGTTTTTAATTGCAGGCAACACTGGTGAAGTACACTACAGACGAGTTTCATCAGCGGATCTTGTATGAGTATTTGGCTGAGGCCAGTGTGGTCTTCCCCAAGGTCTTTCCAGTTGTGTGAGTGTCTGCCATATTATAGATACCAACACCTTATTCTGTTGAGAACCATTAAACTTTCATAGGTTTCCTTCCTAAAAACATGTATTAGGCCTGTAGTTTGACATTCTTTCTGCCTGTGTCATTTTTATCTTAGGCACAACCTGCTGGACTCCAAGTTAAGCACCGTCCTTTCCATGTGC[C/T]AGGACCCGAACCTTCTGAACCCCGTCCATGGCATCATTCAGAACGTGGTCTATCATGAGGAGTCTCCCCCTCAGTACCAGCCGTCCTGCTTGCAGAGTAAAGCCGATCTCTCCTGTTACTTATTAACTTTAACATTTATAAGCAGAAACTTCCTTAAAGCTGCAGTTTGTAAAAGAAAATGATCCAAAATCTATGTTTGAGCACGTACACAACCAGCAGCCAGTGTTTAATACTACTGTACCTTAGCCTGAGTCACAACAGTAAACTTGTAATGATGTTGTTTGTTTCACTTGTAGGTTTTGACAGGAAATATCAGCTAGCCATAATTAGTTCATGTGTTGTTACTTTAAGTCTGTATACATAAAAAAAGACTCTAGTAGGCTATATCACATGCAGAGCTGCCAGGTTGCAGATCATTTATAGCCATGACGGTGTTTGATGGTAATGAAATGCATGTTAGTTATTTATTATTGGGTCAAAACTGTTGATTAGATTAGGAT
Associated Phenotype:
Not determined