ZMP
si:ch73-272g3.1
Ensembl ID:
ZFIN ID:
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 |
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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