Busch Lab

ZMP

dfna5

Ensembl ID:
ENSDARG00000040485
ZFIN ID:
ZDB-GENE-030131-7662
Description:
deafness, autosomal dominant 5 [Source:RefSeq peptide;Acc:NP_001001947]
Human Orthologue:
DFNA5
Human Description:
deafness, autosomal dominant 5 [Source:HGNC Symbol;Acc:2810]
Mouse Orthologue:
Dfna5
Mouse Description:
deafness, autosomal dominant 5 (human) Gene [Source:MGI Symbol;Acc:MGI:1889850]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa42706 Nonsense Mutation detected in F1 DNA Not yet available
sa36101 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42706
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
ENSDART00000059252 Nonsense 51 472 2 10
ENSDART00000125763 Nonsense 51 472 1 9
ENSDART00000137951 Nonsense 51 106 2 3
Genomic Location (Zv9):
Chromosome 16 (position 23511144)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 21620895
GRCz11 16 21426714
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGCTGGTCATCAAGCGTAACCGATACTGGTTTTGGCAGCAACCCAAATA[C/A]AAGCCAACAGACTTCAAACTGAGTGATGTTCTAGTTGGAGATCCCATAAA
Long Flanking Sequence:
AATGCATTTATTTAAGGTGTCTTTGTTGCAGTGAAATCTTACTATAATATTACTAAAAAAAATAACATGGTTATTGTAAATAAACCATGGTTACCAGAAATCAACCATGACTAACCATAGATTAGCAATGGTATTTGTAGTGAAAAATGTGGTTCTATAACAATTGGTTATCATTGCACCAAAAACTATAGTGATGTATTTGCATAATAAAACCTTGTATAATTTTCATAACAGATGCACTAAGGACTAAGAAATATTCCTCAGAAATCATGCTTTGAATGAAAATGCACTTAATGCATGTTTTTTTTTCCCAGCTGATCCTCAAAAGTCTTCTTGTCAGCATTGAAGATGTTTGCAAAAGCCACTAAGAACCTGCTCTCTGAGATAGACTCTGAAGGTTTCCTGATCCCAGTGTTGTGCCTGAATGACTCAGATGGTCTTAGTCCTCAGGCGCTGGTCATCAAGCGTAACCGATACTGGTTTTGGCAGCAACCCAAATA[C/A]AAGCCAACAGACTTCAAACTGAGTGATGTTCTAGTTGGAGATCCCATAAATCCAGGTATAGTACATTACAATCATTCTTTACTGAAATCTATAATCCATGACTTTCAAAGACATACCACTATAAAACGTGTGTGTGTGTGTGCGTGTATGTGTGTGTGTATATATTTATATTTATATATATATATATATTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTAGCGCTGTCAAATTTAGTGCGTTAACGCATGCGATTAATTTGAAATAATTAACGCGTTAAAAAAATTAACGCAATTAACGCAGTTGCAGGTCTTTTTTATTTCCTGTTGTGGTGGACGTGTGTGTAACATGCAAGAAATGTGGATAAGTCCCAGGAAGCACTTTTTGAAGGCAAGTTTCAGTATAAAACAATTAGTTGCATCAGGTTATCCAGAGTTTTATGCAATTTCGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36101
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
ENSDART00000059252 Essential Splice Site 271 472 6 10
ENSDART00000125763 Essential Splice Site 271 472 5 9
ENSDART00000137951 None None 106 None 3
Genomic Location (Zv9):
Chromosome 16 (position 23514916)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 21624667
GRCz11 16 21430486
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTCACAGTTAGTGCTGCACCAGGGAATCCAACCCACAACATGCAGAAAG[G/A]TAACAACACATGAATGTATAAATGTTTTCAATGACATTTTTTTTTACTTA
Long Flanking Sequence:
CTGATGTCTTGTATTTCTCCACAGGTTTCATCTAATGATAAAGGAAAGCCTTCAATTGCGTACGACACTGATGTGTCTATCGACATCCCCCCCAAAACCACCCTTGCTTACAGCGTGATTGAATTAGACATTGCTCACACAGGACACTATGGTATAGATGTTTTGCTAAAGCAAAATATTTTACATTTTTTTGAAAAACATTTAGATCCAATTTAGACAACCAAATAGTTTTGGTTGAGCTGCCAGATTAGATTTAAGAAAAGTAAATGGGACAGAATCTGAGTTAACTAAATTTAGCACAGAATCAAAGTTTGTTGTGCAAAAGTAAAACCTTTCATAAAATAAAATATCATGTGAAGGGTAACTGTTTTCTGTTTTGCCAGAACTGTGTCTGCTGCCAGCAGTCAAAGGTGGATTTGAAATTGATGGCCCAGTCAAGGTGAAACAAGCAGTCACAGTTAGTGCTGCACCAGGGAATCCAACCCACAACATGCAGAAAG[G/A]TAACAACACATGAATGTATAAATGTTTTCAATGACATTTTTTTTTACTTAGTTAAGTTATTTAAAGGCCTAATGTACGATTTTAATACAATTTAAAACAAAACAAGATCAAAATAAATCACTTTTGGACAACTTTCCAAAGCAAACCACCGTCAGTACTTTGTAATTGCAATGCATAGGCAGATGTGCACTGAGGATCTGATGATTTCCACATTATTTTTTCCTTTCAGTCAGATGTCAATGAATAAAACATAAACAGACACACAAAATAGTTCCTTTTACAGTAAAATTTGAAAATGTTATTAGAACTGTTTTTAAAACTGGAGCCTGCTTGCTTTAACCAAGTTACTATATAAATCTATTTGTAAATATGACTTAATTTAGAAACAGAAAATCCGCATATTAAATAGGGTATATTTAAGGTGGTAAAAAATTGCATGTATAACAATTTAGATATTAGATAAAGATACAACCAGAAGGTTATTGCAGAATAATTGCCTG
Associated Phenotype:
Not determined