Busch Lab

ZMP

si:dkey-87m23.1

Ensembl ID:
ENSDARG00000012593
ZFIN IDs:
ZDB-GENE-041105-6, ZDB-GENE-081104-44
Description:
Novel collagen protein [Source:UniProtKB/TrEMBL;Acc:B8JL13]
Human Orthologue:
COL5A1
Human Description:
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Mouse Orthologue:
Col5a1
Mouse Description:
collagen, type V, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88457]

Alleles

There are 9 alleles of this gene:

Allele Name Consequence Status Availability
sa37227 Nonsense Mutation detected in F1 DNA Not yet available
sa37228 Nonsense Mutation detected in F1 DNA Not yet available
sa4934 Essential Splice Site F2 line generated Not yet available
sa23852 Essential Splice Site Available for shipment Available now
sa5957 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43580 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45726 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37227
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Nonsense 248 2024 5 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6566655)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6687747
GRCz11 21 6609998
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGTATTATTTGTTTGTCTTCAGAACCCAGAGGAGGATAACTATTATTA[T/G]GAATATCCCTACTATGAGGACATGGACTCAGACAAGACTGAAGAAACGAT
Long Flanking Sequence:
GGAACACTTTGATTGACATTCACCTTATGTAAGTGTCATCAGAGGAGGAAAGCCCCTCCCATTAGTGACCATCTCTCTGTCATTAGCAGAGGATATTAGTCTCATTTTTTGAATCTGCTGCTATGCTGACACAGCTCCGCCCTCTTTTGAAAAGAACACATTCTCATTTGAATTTAAAGCGACAGTCTCCAGAACTACATAATTAGGATCCAAGTCTAAAGGGTCAGTTTCAAAGAGTTATAAAACATTATTTGTGGGGTCTTTTAAGCTGAAACTTCACACACACACTCTTGGGACATCAGAAACTTATTTTAGATCTTGTAAAAAGGGGCGTAATCCTGTAGGTCCCTTTTAAAGATTTAATTGCATGATACTGTATTGAAATATTTGAGGTTGTTGATATGAATGCTGATAAACTCTAAAATGTGAATGTTCAGCTGTGAGTAACACTCGGTATTATTTGTTTGTCTTCAGAACCCAGAGGAGGATAACTATTATTA[T/G]GAATATCCCTACTATGAGGACATGGACTCAGACAAGACTGAAGAAACGATAACTGAAGAAACCACTGGAACCGAAACCGAAGTCAGTGTTTAGTTCTGTTTTTTGTAAAATAGTATATATCTGTCCGTCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCGTCCATTCATATATTGTTCATTCGTTTGTTCGTTCTTTCTATTATTTTTCCATTCGTCCGTCTGTCCGTCCGTTTATCTGTCTGTCTGTCTATCCATCTCATTATTGTTTGTTCCTTCTTTCTATCATTCTGTCCATCCGTCCATCTGTCCATCCATCCATCTATCGTTCGTTCGTTCATTCCTTCTATAATGTTTTCTATTCATCTATCTGTCTGTCTGTCTGTCTGTCTCACTTTTTATCTATCGTTCGGTCGGTTGATCATTCATTCGTTCTTTCTATCATTCTGTTTGTCTGTCCGTCCGTCCGTCTATCCGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37228
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Nonsense 494 2024 7 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6570498)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6691590
GRCz11 21 6613841
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGGTTATGATGATGCCCAGTATGGCGAGAGTTATGATCTGTCCTACGGC[G/T]AGGGATACGGAGAAGGATACGGAGAAGGAGATTATACTGTAGGAGGAGGC
Long Flanking Sequence:
GTATTTTATTTTATTTTATTTGTGCATTTTATTTTATTATTTTATTATTTTTATTTAAAAAAAATATTTTGTATTTTATTATTATATTTTATTTTATATTATTTAACTTTATTTTAATTTATTTTATTTTTGTATTTTATTTTATTTTTTATTTTGTTTATGTGTTTTATTTGCTTTTATTTTACAGATTTTTTTTAATTTTATTTCTTGTATTTTATTCATGTATTTTATTTTATTTTGTTTTTTATTTTTAATTTGTTTTGTTTTATTTTATTTTATTTCTGTATTTTGTGCATTTTATTTTTGTATTTTATTTGTGCATTTTTATTTTATTATTTAATTAAGTTTAATTCTATTTCATTCCATTCTATTTTATTTGTTTATTTTATTTTATGTTATTCTTTTAACAAACCATCTCTGTTTGTCTGTCCATGCAGGTTGGTGGAGGCGGCGGTTATGATGATGCCCAGTATGGCGAGAGTTATGATCTGTCCTACGGC[G/T]AGGGATACGGAGAAGGATACGGAGAAGGAGATTATACTGTAGGAGGAGGCAGCAGCAGCTCCAGCACCTCAGTGTCTGTCGGGGGTGGATCTGTGTCCGTTGGGGGCGGGTCTGTGTCAGTTGGAGGCGGGTCTGTTTCTGTTGGAGGCGGGTCTGTTTCTTCAAGTGGCTCCATTGGGGGCGGAACCAGCAGTGCAGGGGCTGCAGCGGGGGCAGAGTCTGTTGCCACGGGTGGACAGGGAGGCATCGGTGGAGAAGCAGAATCAATCGATATCGACAAATTTAAAGAGGAGTCCATCACGGATTACACCGATGCTGAGCTGGAAAAGATGTACGATTACGATGATTTGTACACCGATGGTGATAAAGCACTTCCTGCCGAGACCGATGAAATCTATGGACAGGTAAGGGTGGTTGTGTCTACAATAATTCTACAGTTGACCTTGACTATGACAAATTTTGTGATTGTTTACTTAATTTCATTCAAGGTTGGAATGACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4934
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Essential Splice Site 661 2024 9 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6581864)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6702956
GRCz11 21 6625207
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGTAGGGAATGCTGGTGGAAGGTCCGTCCGGTCCTGAGGGTCCAACGG[T/C]GAGTCAGCTTGTGCTTTTGTGTTTCTCCACACACACACACACACACACAC
Long Flanking Sequence:
GCTCCAACTCTAATCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCTGCTTATAGATTTCTAGTGATCTTGAAGACGCTGATCAGCATGTTCAGGGGTGTTTAATTAGTGTTGGAGCTAAACCATGTAGGACACTGGCCCTCCAGGACCGGGTTTGCCCACCCCTGCATCATACAAACACAGATAGACACACACACATACACCTTCACAGTCATACACAAAAAAATATACACATGCGCATACACATACTCACATAGACACACTCACACTCAATACACACACACACACACAAACACAGATGGAGGTGTTCTCACACTTGAGCTCTTGTGTTTGTGTTGTTTTTACTGTGATTTTGATGTTTGTGTTTTTCTGCTCGTCCTGTAGGGAATGCTGGTGGAAGGTCCGTCCGGTCCTGAGGGTCCAACGG[T/C]GAGTCAGCTTGTGCTTTTGTGTTTCTCCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACGTTTTCCCACTAAAAACAAAATTTTTTTTTTACATCTTGGCTTATCATTTACACTGCAACAGCATCTTGGGGGGGCCTCCAAGTGCAAGTTTTAAAAAACAGTACTATTATACTAGAATAAAAATAAATATCTTGTGCATCTCTTCAGCCTTCATGAATTTCCCACATAGCAAAATTTCTCTGGCCCAGCTCTGGCCCATACAATCAGGTTTTGCTTGGCCCACATGCCGCAGTGAATTACGGTACATGACTGGACCAAATCTGGCTACCAGACAAGGGCCAAACACGGACCATATCTGGGCCAAGTCTCAGCCAAGTTAATAACTCGTAACTGGGCCTGAACTGGGCCAGATAGGTTGGTGTGTCACGATTGCAATGAAATTAATAAACCCATGGAGTGATGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23852
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
ENSDART00000027425 Essential Splice Site 793 2024 15 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6595655)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6716747
GRCz11 21 6638998
KASP Assay ID:
2261-5206.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATA
Long Flanking Sequence:
AAATAATGTACCAAAACAAAACTATACAAAACAAAAATATCTAGAGATATTTAAATGTTAATATAATTCCTATAATATACAGTGCATATATATTTTATATCTAAATATAAATAAAACATTCATAACAAAAATTAAACAGATAAAACATTGTAATTAATCGTTGCCCAGTGCTATTTTTATTTAATAATCCTATCGCTGCAGCTATTAAACTATCCCTATCTTTTTTTTACAAAACTATTTAATCACTTTTGTATAATAAACATCATTAAAACCTCATTAAACCTAAATTTGCTGCAATATAAAGATGTTTCCAGTCACTACCCTTTTATTTTCATTTTACCACTACCCACAACTACCCTTGGCTCATTTGTCATTTAAGGGGAGAGGCTTATTGATAATGTAGGTCGATTACACAAAATTTACAGACCTGTTTTTGTGTGTTTTAGGGTCCTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATATAGTAATGATGTTTTGTGCGTTTTTAGGGTCGACCCGGCTCAGATGGAGCCAGAGGGATGCCTGGACAGACAGGACCCAAGGTAAACCTAGAGAGATTTACAATAAACAGACTGCTTTTAGCATGACACACAATGATGAATGTGCACAGTAAGATGAAAGAAAGGAAGCAGATGGATTATAATTGGGAATAATTGTCTCTAAAAATGTAACTGTCCTGTAATTAGGAACTGTTTTGTGTCTGTGTCTCACAGGGAGATCGAGGATTTGATGGTCTCGCTGGTTTGCCCGGTGAAAAGGGACACAGGGTAAACATGGTTTTTATTTTTCATTTTTTAATTTAATTTTTTTCTTTTATTTATTTATTTTATTTTAATTATTTTTTATTTTTATTTTTTATTTAATTTTAATTCATACAATAAAAATTATTTATGATTATTTTAAGCAGGGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5957
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
ENSDART00000027425 Essential Splice Site 881 2024 21 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6599416)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6720508
GRCz11 21 6642759
KASP Assay ID:
554-3852.1 (used for ordering genotyping assays)
KASP Sequence:
ACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTT[A/C]GGGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAA
Long Flanking Sequence:
AATATGAATAACATCTTATAATAAACATTTATTTTATTATAATGTTTTAGCATTTAAAATGTAATACTTCATAGCTCTTTAATTAATTTAGAATAATTTTTTTTAAATAAATAATACTTAAAATGAAGCACGTGAGATGAAGTGTGTAATAGATGGCATAAAAAACTGCTTTATTCATATCGAGATCATGTGACCTAGTGAATGCAGCCCCGCTTTTTTTTTATCTCAGTAAAGCCTGTGTTTATCAGCTGAACACAACTCTCCATCTCCTCATCTTCTCTTATTCAGGGTCCTCGTGGTGTTTTGGGCCCCAAAGGTCCTCAAGGGCCTCCAGGACCTCCTGTGAGTGCAAATGTTTTCTTCATCTGAATCTTTTTTTCTCTTTCATTCATTAGAGTTATCACTAATTTAAACAACAGCCTATTAATGAATGTTTTTATTCTTAGTGTTACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTT[A/C]GGGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAGTCTGACACACATACATTTACACATGAATATGTTTATGCATGATTTATATACAATTATTGCAACATTATTAAAAATATTAATATTTCCTGTTTAGGAAATTGACAAATAATTTTTAAGGGCAATATTGTTCAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGTATGTATGTATTTATGTATGTATGTATGTATGTATGGAATTATTTATTAATTAATTAATTTATTTATTTATTTATTGATATATTTGTGTATTTATAAATTTTTTATTTATTTGTTTGTTCGTTCGTTCGTTCGTTTGTTTATTTATTTATTTGTTTGTTTATTTATTTATTTATATTTTTTTTGATTGGCTACTGAACAATAAATTCTTTAAATATCACTTCAATGACTGGATACTAGTGTTTTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43580
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
ENSDART00000027425 Essential Splice Site 881 2024 21 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6599417)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6720509
GRCz11 21 6642760
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTTA[G/T]GGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAG
Long Flanking Sequence:
ATATGAATAACATCTTATAATAAACATTTATTTTATTATAATGTTTTAGCATTTAAAATGTAATACTTCATAGCTCTTTAATTAATTTAGAATAATTTTTTTTAAATAAATAATACTTAAAATGAAGCACGTGAGATGAAGTGTGTAATAGATGGCATAAAAAACTGCTTTATTCATATCGAGATCATGTGACCTAGTGAATGCAGCCCCGCTTTTTTTTTATCTCAGTAAAGCCTGTGTTTATCAGCTGAACACAACTCTCCATCTCCTCATCTTCTCTTATTCAGGGTCCTCGTGGTGTTTTGGGCCCCAAAGGTCCTCAAGGGCCTCCAGGACCTCCTGTGAGTGCAAATGTTTTCTTCATCTGAATCTTTTTTTCTCTTTCATTCATTAGAGTTATCACTAATTTAAACAACAGCCTATTAATGAATGTTTTTATTCTTAGTGTTACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTTA[G/T]GGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAGTCTGACACACATACATTTACACATGAATATGTTTATGCATGATTTATATACAATTATTGCAACATTATTAAAAATATTAATATTTCCTGTTTAGGAAATTGACAAATAATTTTTAAGGGCAATATTGTTCAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGTATGTATGTATTTATGTATGTATGTATGTATGTATGGAATTATTTATTAATTAATTAATTTATTTATTTATTTATTGATATATTTGTGTATTTATAAATTTTTTATTTATTTGTTTGTTCGTTCGTTCGTTCGTTTGTTTATTTATTTATTTGTTTGTTTATTTATTTATTTATATTTTTTTTGATTGGCTACTGAACAATAAATTCTTTAAATATCACTTCAATGACTGGATACTAGTGTTTTGCAA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa6663
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Essential Splice Site 946 2024 24 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6601432)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6722524
GRCz11 21 6644775
KASP Assay ID:
554-4911.1 (used for ordering genotyping assays)
KASP Sequence:
CACTGGAAAACCAGGCTTGCCGGGAATGCCAGGAGCCGACGGGCCTCCGG[T/C]GAGTCCGGGAAATCCACASGCATCTCGTCTGATCGKCTCAAACTTTGTTG
Long Flanking Sequence:
AACATTTTTTTGCAAATTGTTTTTTTTCTTCATGTTGTTTATGTCAGCGTTTATTCCAGTTTTTTTTTTTTTTGCAAAAAAAACATTTTAATTCTAAATTTGGGTGTTTCAGTCATTCCTTCCTCATTCAAGATGTCATGAATGATCACAGAAAGATGCAAACTCAGCTAACGTGATGCTTTTTAATGAAATAAAAGATTCTATTCTGAATAATATACTGTTTGTTTACACTTTAAGAACACAAAGATTTGTTAAGATGCATTTGAACCATTTTCCTCATTATGGACATCATTAGTTGTCATTAACCCATCTACCCTCAGGCCACATGAGCTGATAGATCGATCGACGAGATGATTATTCATGTGTGTGTGTTGAAACAGGAAGTGTGTTGTGAGTGTTAATGGCTTGTGAGTGCTTATCTGTGCTGGTTTTCCTCTATTATCAGGGTCCCACTGGAAAACCAGGCTTGCCGGGAATGCCAGGAGCCGACGGGCCTCCGG[T/C]GAGTCCGGGAAATCCACACGCATCTCGTCTGATCGTCTCAAACTTTGTTGTTTGCGTATCAGAGAGATTTCATTGTATTCATAATTATAGCACAGGGATCTGCCTGCCATTTTTGTTTTCTCTCAGATCTATCTTCACAAGCACACATTATTCACATCTCAAAGCCACAACTCAGCATTGCACAACTCATCATATCTGTTTGGCACTGCAGGACAACCTAGGGAAAAAGGGCTGTCTTTGTTTTTGTTGTCTGTTAGTTAGGTGGGTAGTTAGTCAGTTAAACTTGTAGACTAGATATATTAGTTGTTAGTTGCACTGTAGATTAGATAGATAGATGGATAAATTGGTATTAATAGATTAATTTTTCATAGACTAGTGTTTAGATAGATTGACAGATTAGTCTATTTAGTCTAGTCTAGTTATTCATCGGATGGTAATATGCTATTTATTTAGTTAGTTAGTTAGTAAAATGCATAGACTAGACAGAGTATTTGTTAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45726
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Essential Splice Site 1132 2024 34 65
ENSDART00000139598 None None 126 None 2
Genomic Location (Zv9):
Chromosome 21 (position 6617407)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6738499
GRCz11 21 6660750
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGGGCAACTCTGGAAGCGATGGCCCCCCAGGACCACCCGGTGAACGGG[T/C]ATGGTAGAAATAGTCATTGAACTAATCCAAAGAATTGATTATTCTATATT
Long Flanking Sequence:
CCCTTTAATATAATGTCCAAAATGTAAAAAAAAAAACTATAATAAAAACAAATGCGTGCGCTTGCACATAAAAACTCACTCAGCTAAAGCACACCACATCCTAACAGATAACAACTCTCTTTTTTACGGGATATTTTAAAGCTCTTTCATCATTTGTGTTGGCATGAAATCTAAAAAGTGAATACTTTGACAGCAGCTAACGGTCTTATTACATTTCAAAACGCAATGTTTGGCTCAGCTGGAGCAAATTGAAATGCAACAGAGATTTTACAGACCTCCACATCCTCCATCAGTCAAACAGATCTTTAATGGCACTCATTACCTCCAGCAATAAGCACACGTTTTACGGTATTAATATTTAAACGCATTTGCGTGGGCGTTTACAAACAGTCTGAAATATTAAAATGTTCTGTTTAATTTCCTCATCCCTTTCTCGTTTGTTTCTCCACCACAGGGCAACTCTGGAAGCGATGGCCCCCCAGGACCACCCGGTGAACGGG[T/C]ATGGTAGAAATAGTCATTGAACTAATCCAAAGAATTGATTATTCTATATTGCTTCAGAGAGAGATTTAACCTCAGTTTCTGTGTTTTCTTATAGGGTCTGTTGGGACCACAAGGACCAGCTGGATTCCCGGGCCCTAAGGGTCCACCTGTATGTGATGTTGATGTTTTAAAAACAACTACAGTATCATCATTCAATTATCTATCCTGATTCTCCCTCACTCTCTTGTTTTTCAGGGACCTCCTGGTAAAGATGGACTGCCCGGACACCCTGGTCAGAGAGGAGAGACTGTGAGTAGCATCTAATATCACGATATTGGAAAAATAGGACATTGCGATATTTTGTTTTTCTGCGATGTGTATTGAAGAGCTCAATGTTTATTTCATTTAGGTTTTATTAAAATGATTCTGTAGTGGCGTGAATCATGAATAAAGAATAATAAACAAATCACAAGTTTTTTTTTAAATCACAGTTTTAGGAACAGCACATAATAACTTGACTT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa29511
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027425 Nonsense 1900 2024 64 65
ENSDART00000139598 Nonsense 2 126 1 2
Genomic Location (Zv9):
Chromosome 21 (position 6676262)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 6797354
GRCz11 21 6719605
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCGGTTATGTGAAGTGCACTGCTCTGTGTGTTTGTCTGTTCAGCTCT[C/A]GTATGTGGATGCGGAGGGCAATGCCATCGGTGTGGTGCAGATGACGTTCC
Long Flanking Sequence:
ACTATTTGAAACTTTTAATATGGATAATTAAAAAAATTGTTGTGGCACAATGGCGCCCCCCATGTGTGGCGCCCCTATGCGCCGCATATACTGCATACCCCTTTTTTGTGCCACTGCTTATTTATTTTGCAAGGTTGTTGAGATCCGATCTTTTGATGATTAATTGTGGAGCTTACGCTAAATGCATTAATGCAGGCTAAACAAGTAGGGACAGGAAACACCTTTAATAACCCACCAAACCCATCAACTATCATCTATTACACCGCTATTGTTAACCTGAATGACATTTTATTGGGTGTTTTCTGTAAATCATGCCTATAATGTATCATAGAATCAAAAAAAAAAACATTTTATTCAATATTTAGTCTATTTTCTATCACTCAAATATTCAGAGTTGATCATAAAGCAGGGTGTGGTGTGTAGTTTTCAGCAGATGTGTGTATAGTGTGTCCAGCGGTTATGTGAAGTGCACTGCTCTGTGTGTTTGTCTGTTCAGCTCT[C/A]GTATGTGGATGCGGAGGGCAATGCCATCGGTGTGGTGCAGATGACGTTCCTGCGTTTGCTCAGTGCCACGGCCCGGCAGAACCTCACCTACAACTGTTACCAGTCTGTGGCCTGGCACGACCAAGACCAGGACTCTTACGATAAAGCCATCCGCTTCCTGGGCTCCAATGACGAGGAGATGTCTTACGATAATAACCCGTACATCAGAGCCGTAGTCGACGGCTGCGCGGTAAGACACGCAAAGATTTCACATTCTGGACTACAAAACCAGTCAAAAGTGTAAATTTTTGGAAATTTTAAGATTTATACATTAACTTAAAGTACAAGAAATAAATGTTTTATTGATGTATACTTTGTTAGGATTGAACAATATTTGGCCGGGTTAAAAAAAAAATCTAAACTTGAGCAAAATCACCTTAAAAGTTGTCTAAATTAGGATTTTAGCAATGCAAATGGACTCTTTCTGGGACTCTTTTCTGGGTGAACGGAGCACAGTGAAT
Associated Phenotype:
Not determined