ZMP

atp6v0a1b

Ensembl ID:

ENSDARG00000015174

ZFIN ID:

ZDB-GENE-050522-215

Description:

ATPase, H+ transporting, lysosomal V0 subunit a isoform 1b [Source:RefSeq peptide;Acc:NP_001018502]

Human Orthologue:

ATP6V0A1

Human Description:

ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]

Mouse Orthologue:

Atp6v0a1

Mouse Description:

ATPase, H+ transporting, lysosomal V0 subunit A1 Gene [Source:MGI Symbol;Acc:MGI:103286]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa45009	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa45819	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa45009

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000041714	Essential Splice Site	634	839	16	22

The following transcripts of ENSDARG00000015174 do not overlap with this mutation:

ENSDART00000141511

Genomic Location (Zv9):

Chromosome 24 (position 7731724)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	7589016
GRCz11	24	7618335

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTGTTCAACTACAACGACCCCACCAACAAACCGCTGTACAGAGGACAGG[T/G]AACACACATTAACGCAAAACAGAAGTTGTATTAATAGATCATTCTTGTTA

Long Flanking Sequence:

GTCCATAATGCAGTTTTCTTATAATCATCTTTTAAGCTTAATAGTAAAATGAAACTGTGTGTATGTGCTACCAATTTTCCTCCATTAGATCTGGAACATTGCCGCAAATAAGCTGACGTTCCTGAACTCCTTTAAGATGAAGATGTCTGTGATTCTGGGTGTCATTCACATGCTGTTTGGAGTCACGCTGTCCCTCTTCAACCACCTGTAAGTGCGTGTTCATATGTGTGTGTTAAGTAACTAGTGTTTCAATTACTGCAGCTTTTTCCATGTGTCTCACAGATACTTTAAGAAGCCTCTGAACATTTTCCTGAATTTCATCCCTGAGATTGTGTTCATGAGCAGTCTTTTCGGTTATCTGATCCTGCTCATCTTCTACAAGTGGATCGCTTATGATGCGGTGACCTCTAAAGACGCTCCCAGTCTTCTGATAGCCTTCATCAACATGTGTCTGTTCAACTACAACGACCCCACCAACAAACCGCTGTACAGAGGACAGG[T/G]AACACACATTAACGCAAAACAGAAGTTGTATTAATAGATCATTCTTGTTATATGCAGTTTGTACAAATATCAGAAGTTCAGTAAATTTTTCACTCTTTGTTATATTGCAGCCTTTTGCTAAAACAATTTCAGTTTGTTTTTTTCCCTCATTAATGTACACACAGCACCCCATATTGACAGAAAAACTCAGAATTGTTGACATTTTGCAGATTTATTAAAAAAGAAAAACAGAAATGTCACATGGTTTTAAGTATTCAGACCCTTTGCTCAGTATTTAGTAGAAGCACCTTTTTGATCTAATACAGGCTTGAGTTTTTCACACCTGGATTTGGGGATCTTCTGTCATCCTCTTGCAGATCCTCTCCAGTTCTCTCAAGTTGGATGGTAAATGTTGGTGGATAGCCATTTTTAGGTCTCTCTATCGATGCTCGATTGGGTTTAAGTCAGGGCTCTGGCTGGGCCATTCAAGAGCAGTCATGGAGTCGTCGTGAAGCCATTCC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa45819

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000041714	Nonsense	673	839	18	22

The following transcripts of ENSDARG00000015174 do not overlap with this mutation:

ENSDART00000141511

Genomic Location (Zv9):

Chromosome 24 (position 7724891)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	7582183
GRCz11	24	7611502

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TAGAGCAGACAGGCACCAGCTCACCCCCCGGACTCACCCAACAGGGCACA[C/T]AGAAGTTCGGTGGCGTCCGGGTCGGAAATGGGCCTACGGAGGACGAGGCA

Long Flanking Sequence:

AACTTTAACATCAGATATTTTATATGACATCTTTCCAAAGTGCACTTATAGATAAAAAAGAACGATATTTCTTTACTATTTTCTCAAACTCAAGGGGTTCTAATTTCTTTCTTCTGTTTAACATGAAACAAGAAGTCAATAATGCAGAATGCTGCCAAACAGCATTGACAACCATAGTAGAAACAAAAAACACTACGGGAGTCAACAGAGGATTTTTTTCAAAGAAAATCCACTAAAAAGGGTCATAATTCCCCTTAAAACCAGTTCTATGAGATCAAAAATAAACAAATCGATAAATTATACACTGTCCCGTCTTTGGTAGGTGCCTCAAGCAGTTATACCAAACACAGCATATACTCAAACGCCCATGGCATGCTGATAGCCACACAGACCTTGTTTGTATTTAGTCCCAGATGAGGGATGCAAGACCTGCAGAGAATCTAGAAACTTTAGAGCAGACAGGCACCAGCTCACCCCCCGGACTCACCCAACAGGGCACA[C/T]AGAAGTTCGGTGGCGTCCGGGTCGGAAATGGGCCTACGGAGGACGAGGCAGAGATCATTGACCATGACCAGCTCTCACAACACTCAGAGGAAGGTGATGAGGTGAGTGTCGGTTTTACAGAACACAGTGAATTATATGTCAATTACTGTACTCTTTGAAAGTCACTAAGGCTGCTTTATTTGATGAAAAGTAAAGGTAAAACTGTAGCAATGTGAAATATTGCAACAATTTAAAATGTGTTTTATTCAACGCTATCTCACGGCAATTCGTAACTTTTTCATTTAGTGGCTGATTTGTACGATCTCATTTGTATATTTTAGTATGATTTGCTCATCCCCATTGTCGTTTGGGTAAGGGATTGAGTTTAAAAATCTGTTTAAAAATCTTATATTTTTGTACGTATGAACTTTTAACTGACAAAACCTAAAATAGTTACGTTTCCTCATGATATTAGGCTGGATTTACGGATTATAAAATTATTTGTGGCATAAGGCCTGCTT

Associated Phenotype:

Not determined