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