Busch Lab

ZMP

si:ch73-272g3.1

Ensembl ID:
ENSDARG00000075362
ZFIN ID:
ZDB-GENE-091118-27
Human Orthologue:
DFNB31
Human Description:
deafness, autosomal recessive 31 [Source:HGNC Symbol;Acc:16361]
Mouse Orthologue:
Whrn
Mouse Description:
whirlin Gene [Source:MGI Symbol;Acc:MGI:2682003]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa23889 Nonsense Available for shipment Available now
sa10839 Essential Splice Site Available for shipment Available now
sa29546 Nonsense Mutation detected in F1 DNA Not yet available
sa29545 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa23889
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111659 Nonsense 470 939 6 12
ENSDART00000145366 Nonsense 455 924 5 11
Genomic Location (Zv9):
Chromosome 21 (position 12217082)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 13918256
GRCz11 21 14014985
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTGTCCAGTTTGGTGAACCAGAGCAGGGCCATGCTGGAGGAACAGGCC[A/T]GACATCTTCTGACCGAACCGGAGAGGCAGACCATGGGTTACTACATCCAG
Long Flanking Sequence:
TTTGCACTTTACTCTATATCACAGATCTCCATATCAATTTTTCCCAACATCCCTTGTTGTGGTGTCATGATTTGCCTGAGAGCTTGCCCTTTCTAGGCTGATCACAGCACTGATCAATGATCATGTTGACTCTGGTGCAAAGCTTTTTGATTAGGAGACTAATTAAAGGGAAAGCTGCTCTCGAAGAAGAGAGACTGAAACATGTGAGAGAGAAAATAAGAAGGAGGGTTAGAGATTCCACTCCAGTCGCTCTCCATTACTAAGATGTGAGTTATGAAATCAGCAGTGAACCCCAGACTCGTTGCAAGATTTCCAATGTGTGCTTTGAGGCTCAGTAAGTCACAGGAATCTGGATATTAGAAGTAATTTAACATATTTAAATATTTGCATTTCTTCTTTTCGCTTTTCCTCAGGGGGGCTTTTATAAAGGTGTAGCGGGATCTCAGGTGACTCTGTCCAGTTTGGTGAACCAGAGCAGGGCCATGCTGGAGGAACAGGCC[A/T]GACATCTTCTGACCGAACCGGAGAGGCAGACCATGGGTTACTACATCCAGGAATATCGGGACGGGCACGTCGGTGTTGAGCAGCTCGTCATGGCTCTCTTTGAGCTCTTCAATACACACGCCAAGGTTTTGCATGACTTTTGTGCATTTATCAGACACTTCCATCCACAATAAAGAGGCTACATTAGAATTCTGAAATTATTTTCATTAGGGATGCAATGAAATGGATATTCTGGAATGAAACTGGACATTCTGGATGCACTTGGGTGAAACCAAAACTAAAAATGTTTTATATATTTTATAATTAATTTTAAATCATAAAATTAATTACTTTATTAAATGACAAACCACTTTAAATTTCAAACAGTCGTTGACAAACCAGTCAGTAAAATTTGACTGTCGATAAAATATGGTTATATATTTATGTTGTTTTTTTAGCATGACAGTATAATTTAGATATAATTTAAGATATTTTAAGTATAATTTAAGATATTTTAACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10839
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111659 Essential Splice Site 582 939 7 12
ENSDART00000145366 Essential Splice Site 567 924 6 11
Genomic Location (Zv9):
Chromosome 21 (position 12214274)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 13915448
GRCz11 21 14012177
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTCCTCCTCCRCCAGCTTCATGACCAACACTACCCTCAGCTCCGCAAGG[G/A]TRAGAACTCACAGNNNNWCATTATTTTAGAGCCCTATCATTATTGTTRTGAAGG
Long Flanking Sequence:
GGATTCACTTCAGTGTTCAGATTTTATACTTGAAATATTTTTATAATAGGCGTTACTGGCTGAATTCATTAATCTTAATAAAAACACAAAATAAAACACACTGACACCATCAAAAATGTCTTCATTTTATTGGTTCATTGGGTTGATTTACAGCAAGACTTGCATCATTTTACTTGAACATTTATGAACGTATTAAAACCCCTAAGATTAAAGCACTAAACACAAGCCTAGTCATATTCACGCTTCTGTGTGTGTGTGTGTGCGTGCGTGCGTGTGTTTGTTGGCAGTTTTCTCTGCTGTCCGAGGTCAGGGGAATCGTGACCCCTCAGGATGTGGAGAAATTTGACGGTCTGGTCCTGAGACGAGAGATTGATGCCCTGAAGGCGAGACAGGGTGGGGGAGCAGGTTTCCAAGACTCCTTCTCCATGGTCTCGTATCCAGACACTTTGGCCTCCTCCTCCGCCAGCTTCATGACCAACACTACCCTCAGCTCCGCAAGG[G/A]TGAGAACTCACAGTCATTATTTTAGAGCCCTATCATTATTGTTATGAAGGAAAACATGATGGAATTGTGGGATTCAGTCATATAAATGATATGTGTTTAACTGAATGTCACAGAATTACTTAAATGAATAAATCAAAAGTGGGTCAGTACACTATTATTATATGTACTGTTATTTTTTAATAATCATAATGACCAAATATACAGTATTAATAACATATTCGTACTGTTTTTGTTATGATTTAATTTTTATTTTCTTTTTCTTCAATAATTTCACATTACAATCAGTTTACACATATACCTTCTTTTAACATCCCCTTATCCCTCCCCTCCCCTACAGCGGCAGTGCTGTCATTGAGTATTGCTATCATAGACCCAGTAAACACAAATACTTATTATTAAACTCCATAGGAACAGTAACAATACAATAAGACATAAATAAATAATAAAAAAATCAAATAAATACAAATAATAAACGAATAAATAATTAAATTTTTGTTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29546
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111659 Nonsense 739 939 9 12
ENSDART00000145366 Nonsense 724 924 8 11
Genomic Location (Zv9):
Chromosome 21 (position 12197857)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 13899031
GRCz11 21 13995760
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGAATGTACCCGCTCCGCCCGGTCCGCCTCCTCCTCCGCCTCCACCTT[T/A]GCCTCCACCCTCTTGCCCGGATAAACCCACCCCTTCCTCCCCAGCGTCCA
Long Flanking Sequence:
GTGTGTATGTGAAAATACTGTGTTATAACTTACTGAATCTCTTACTGATCTCCTTTCATAACACAAAAACGAATGGCATCACTAACGTTCTCCTCTTTCATCCTAGGATGAGGTTCATTCCACCTCAGATTCTCCTCCTTCCTTTAAACCTCCTCCTCCCCCAGGGCTCCAGCGGCGTCCCAGTCGAAAAGCCACGCTTAGCAAACGTCCCTCTTCCAGCTCTTCCCAATCAGGCCTGTACTTCACCGCTCCTTCTCGTTCCCACACCAGAGAGTCCAAACACCCTAAAGCACCCAAAGCTTTCATGTCTCCTCCTGGCACCCTCAAAATAGACGTCCCGGCATCTCAGCTCTCAGTCGTGAGTCAGCATCCAATCGGACCTTTCCCAAGAGTTCAGTCTCCTAATAAAGCGAAGCCTGCTCAGTCCTCATCTCCAATTCCTCCACCTGCACCGAATGTACCCGCTCCGCCCGGTCCGCCTCCTCCTCCGCCTCCACCTT[T/A]GCCTCCACCCTCTTGCCCGGATAAACCCACCCCTTCCTCCCCAGCGTCCAATCAGCATTTTGTGATGGTGGAGGTGCACAGGCCCAACGCAGAGCCCGATGTGAACGAGGTCCGGCCGCTGCCACAGGTTCGAGGTGAGAATTGGCCAGATCTGATGCATTGTGCGGCAGCTGCTGGATGTTTAATAAATCATTAACCAGCTGTCGGTTTTTATCCCATCTAGTTATTTTCAGCCATTCAATGCTGAAAAAAATCGTTATCTGCAAAAAAAGTGGGAATGTTCATTTTTAAATGAATCACTCAGACAGATATGGAAATTTAATCATTTATTGACTTTCTTTTTGGGTTCCAAGGATAACATAACCACTTCTAGGATTTGATCCTGAGTTATAATCAGTAGTGTAAAGTAACAAATTATAAAAACTCAAATTACTGTAATTGAGTAGTTTTTCTCAGAAATCGTAATTTACTAAGTAGTTTTAAAAAATGTTTACTTTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29545
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111659 Essential Splice Site 783 939 9 12
ENSDART00000145366 Essential Splice Site 768 924 8 11
Genomic Location (Zv9):
Chromosome 21 (position 12197722)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 13898896
GRCz11 21 13995625
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACGCAGAGCCCGATGTGAACGAGGTCCGGCCGCTGCCACAGGTTCGAG[G/A]TGAGAATTGGCCAGATCTGATGCATTGTGCGGCAGCTGCTGGATGTTTAA
Long Flanking Sequence:
TCCTTCCTTTAAACCTCCTCCTCCCCCAGGGCTCCAGCGGCGTCCCAGTCGAAAAGCCACGCTTAGCAAACGTCCCTCTTCCAGCTCTTCCCAATCAGGCCTGTACTTCACCGCTCCTTCTCGTTCCCACACCAGAGAGTCCAAACACCCTAAAGCACCCAAAGCTTTCATGTCTCCTCCTGGCACCCTCAAAATAGACGTCCCGGCATCTCAGCTCTCAGTCGTGAGTCAGCATCCAATCGGACCTTTCCCAAGAGTTCAGTCTCCTAATAAAGCGAAGCCTGCTCAGTCCTCATCTCCAATTCCTCCACCTGCACCGAATGTACCCGCTCCGCCCGGTCCGCCTCCTCCTCCGCCTCCACCTTTGCCTCCACCCTCTTGCCCGGATAAACCCACCCCTTCCTCCCCAGCGTCCAATCAGCATTTTGTGATGGTGGAGGTGCACAGGCCCAACGCAGAGCCCGATGTGAACGAGGTCCGGCCGCTGCCACAGGTTCGAG[G/A]TGAGAATTGGCCAGATCTGATGCATTGTGCGGCAGCTGCTGGATGTTTAATAAATCATTAACCAGCTGTCGGTTTTTATCCCATCTAGTTATTTTCAGCCATTCAATGCTGAAAAAAATCGTTATCTGCAAAAAAAGTGGGAATGTTCATTTTTAAATGAATCACTCAGACAGATATGGAAATTTAATCATTTATTGACTTTCTTTTTGGGTTCCAAGGATAACATAACCACTTCTAGGATTTGATCCTGAGTTATAATCAGTAGTGTAAAGTAACAAATTATAAAAACTCAAATTACTGTAATTGAGTAGTTTTTCTCAGAAATCGTAATTTACTAAGTAGTTTTAAAAAATGTTTACTTTTACTTTCTCTTGAGTACATTTTTAAAGCTGTATTGGTGCATTTAGTCTTTTACCAGATGTGTTTGTCCAAAGCAACTTGCAATAATTTGAACAAAATAAGGTTAAACTAATAAAACAGTTGTAGTCCACAAAACTAAA
Associated Phenotype:
Not determined