ZMP

atp6v1ba

Ensembl ID:

ENSDARG00000013443

ZFIN ID:

ZDB-GENE-030711-3

Description:

V-type proton ATPase subunit B, kidney isoform [Source:RefSeq peptide;Acc:NP_878298]

Human Orthologue:

ATP6V1B2

Human Description:

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]

Mouse Orthologue:

Atp6v1b2

Mouse Description:

ATPase, H+ transporting, lysosomal V1 subunit B2 Gene [Source:MGI Symbol;Acc:MGI:109618]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa23052	Nonsense	Available for shipment	Available now
sa36389	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa23052

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000007021	Nonsense	205	506	7	14

Genomic Location (Zv9):

Chromosome 17 (position 21218512)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	21368661
GRCz11	17	21388497

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCTTTGATCATTAGATTGCAGCCCAGATTTGTCGTCAGGCTGGTTTGGTG[C/T]AGAAATCCAAAGATGTGACTGACTACAGTTCAGAAAACTTTGCCATCGTC

Long Flanking Sequence:

ACATGTTTTAAAAATGATTAAAAGTCTTATCGTACACAAACATTGAAACGATGTTATTCTATAACATATGTTTCCACACTAGCAAGGTTTAAGCAGATTTTAAAAACTCATCTTTTTAAGACTTCACTTTTAGATTATGGAGCATCCTAATGTGTCTATATTTTATCATTTTTCTGTGTTGAATTTTTGTATTTTATTACATGTTTGATTTCTCTGTTGTTGTTGTGCCTTGGGTTTTAAAAAAGCGCATTATAAATAAAATGTATTATTATTAATATTAATATTATTATTATTGTACCTATTTTACTGGGTAAAAATTTTAATTCTAATTGTGACTCAACTTGTTCAGTAGAGTTGGCATAGGTTTGCTAAACTTTAAAATGCATTATATCCATTAAAAAAAATTTATTAATGAAGATACACCTTTAACCCTTTTTTGCTTCTGTGTTTCCTTTGATCATTAGATTGCAGCCCAGATTTGTCGTCAGGCTGGTTTGGTG[C/T]AGAAATCCAAAGATGTGACTGACTACAGTTCAGAAAACTTTGCCATCGTCTTTGCTGCTATGGGAGTGAGTGATTTTTCAAAGTTTTTCTTGTGAAACTGTTTCCAATATTTTTTGCTAGTACTTTGGTTTAAGTACTATATCTCACTATTAACTAGTGGCGTATTTGCTGCCTGTTATTAAGATATTAGCTGTTAATTTGTACTTATAAAGTACATAATTGTACTTATACATTACATATACAGTACCTAAAACAAACAGAAAATTGTGCAGATAATTAAACATTTTGATAGTTAATGATTTGTTAATAGCCAGAATTGTACCTTAAAATAAACTTTCTTTTCATTTTCCTTTTCTTTTCTTTCCGTTTCTTTTTCCTTTTTCTTTTTTTTTCTTTTTCTTCTTTCATTTTTCTCTTTTTCTCATCCTTTTTTCTTCTTTTCTTTTCTTCTTTTCTTTTTTTCTTTCCTTTACTTTTCCTTACCTTTTTCTCAATTGCTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa36389

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
ENSDART00000007021	Essential Splice Site	259	506	9	14

Genomic Location (Zv9):

Chromosome 17 (position 21216876)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	21367025
GRCz11	17	21386861

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATGGACGGTCTCATTTTGTGTAACATACCGACTGTATCTTTTTTGTTTA[G/A]CATTGAGCGCATCATCACCCCGCGTCTGGCACTGACCACAGCAGAGTATC

Long Flanking Sequence:

GGGAAACGGGAAGTAAAGGACTTAGTCTGTTCAGAGTTTCTCATGGTTGTTTGTTTGAATTACAGGTCAACATGGAGACAGCACGTTTCTTCAAGTCAGACTTTGAGGAAAACGGTTCCATGGACAATGTGTGCTTGTTTCTGAACCTGGCCAACGATCCTACGTGAGATTTTGATTAGATGACCTTCATCATCTTATGTTAAAAGAAAAATGTACTCAACCTCAAAGTGATTCCAAACCTTTAAGAATGTCTTTTCTCTATTGAGCATAAAAAGAAGTTATTTTGAAGAATGTTGTAAACCATTAACCATTCTATAGTATGGAAGCAGCAAATACTATGGAAGTAAGTGGCTTCCAACATTCTTCTTCAAATATATCTTTTGTGTTCAATAGAAAAAAACTCAGGCAGGTTTGAGAATGGGTAAAGTGTTGATAGATTTTTCATTTTCAGATGGACGGTCTCATTTTGTGTAACATACCGACTGTATCTTTTTTGTTTA[G/A]CATTGAGCGCATCATCACCCCGCGTCTGGCACTGACCACAGCAGAGTATCTGGCTTATCAGTGTGAGAAGCACGTGTTGGTCATCCTGACGGACATGAGCTCCTATGCGGAGGCTCTGAGAGAGGTGAGAACGATATCATGCCAATAAAATTATTTCCTCATAATGAATGTCTGAGGCAAGGGCCACGCAAGAGCCTCTGATTTTTGAGAAAAGTGGATTTTAATTAACTTCCAGTTATTTTTTTATTAGAGATGCAATAATGTAAAAGCTATTTCCATGCTGTCTGCTATTTGCTGATTGTTTAATAATAGCTGATGATGAAGCCTGATTATGTCCTGTCAATCAAAAGAAGGCGGGAAATGTCATATTTTACTTGAGAAATTACTAAAGAAATCACTACATTTTGAGCATTTCAACTTCTTTAACGCACCTTAAAGAAAATTTCTCACATTTTTCAATGTTAAGGAGGTTTAGTCATGTTAACCTCCATCCAAAGATG

Associated Phenotype:

Not determined