ZMP

atp6v1b2

Ensembl ID:

ENSDARG00000043465

ZFIN IDs:

ZDB-GENE-030711-4, ZDB-GENE-030711-4

Description:

V-type proton ATPase subunit B, brain isoform [Source:RefSeq peptide;Acc:NP_878299]

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
sa15671	Nonsense	Available for shipment	Available now
sa41634	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa15671

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
Order Allele From EZRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000063806	Nonsense	41	509	1	14
ENSDART00000063810	Nonsense	35	196	1	7

Genomic Location (Zv9):

Chromosome 10 (position 19585023)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	19597369
GRCz11	10	19554803

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGGTCGCCGTTCGGGAAAATGTCCTTGCCGTGACTCGTGACTACATTTCT[C/T]AGCCGAGATTAAGTGAGTGTACAGTGCTGACTATRAAGGGCCCTTACAAA

Long Flanking Sequence:

TATAAAGTATTTGACACAAAAGCCGTGGGATCGGGACAGGTATCTTAAGTTATAACAGTATTAATGTAATCTGAGAGATATCTTAAGTAAATTTGTTTAATATAACATACACTGACTTCACATTAAACACCAGCGATCAGGACAGCTATTTTGTACTGCATATAAAAGACATTGCTGTTTTCACAATCTGCGCATGATCCGTGACCTATGCAAATTCACAGATAGGCCACGCCCACCCGATGACGTAGTAGCGGTTACGCTGTACTGAAACCCCTGGAAAAAAGTGCCTGCCGAGAAAAACACGTAGCTCCTAGTGCGCATGTGCATTTGTGCTTTCACACTTTAGCTTGCAGTAGTGATTTTTGTGTAGAGTAGTCATCATGAAGGCTCTTAGGGGAATGGTGAGCGGAGCCGTGAGCGAAATATCATCTTCTCTTACTGGGACTAAACAGGTCGCCGTTCGGGAAAATGTCCTTGCCGTGACTCGTGACTACATTTCT[C/T]AGCCGAGATTAAGTGAGTGTACAGTGCTGACTATGAAGGGCCCTTACAAACAGAAGCCCACCTTAGCGATCAAATGATGTGTAACTCCGCAACGATTGAATGACGTGCTCTGGATTTACGACTGCATTTCATTAACATCCTCGTAGTTATTCCTAACTGCAGACGTTTACTGTTTAATTTGTAAGATGTCTGATATTGTACATCAGTTTATGCAGTCAGGTGAATTGATAAATTAGATGGCACGTTCCCTGCTTTCTATATATATTTTTTCTTTCTAATTGGATTGTAATTATATCTGTGTAATTATTGCCCTTTCGACAAATATGATGCCGAATAAATGAACACGGATGTAGGTTTTAGGTTTGTGCATATCTGATGTGTATCGTGATGGTGTGATGGCAAGCTGTTTTAACATTAAGACTATTGTTGACAATTGTGTTATTATGTCTTTAGTTGTTTTAAGTGCATTCCCTGCTAAAACACAGCTTAAACCAGCTTTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41634

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000063806	Essential Splice Site	359	509	10	14
ENSDART00000063810	None	None	196	None	7

Genomic Location (Zv9):

Chromosome 10 (position 19592349)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	19604695
GRCz11	10	19562129

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGCAATGGATCCATCACTCAAATCCCAATCCTCACTATGCCCAATGATGG[T/C]TGGCAAACTTCTACCTACTCAACTTTTAATTTTTATTTACAGAAATAGTT

Long Flanking Sequence:

AAAAAATCTTCATTTGTTTTAAACAGAAGAAAGAGGGTCAAATTCATTTTGGGGTGCATTATCTCTTTAAGGACAGAAAGATTTGAAAATAATGACAACATTTTTGGAAAGATAAACCAAAATGTTGAGTTTTCTTTTGCAGGATTGAACGTATCATCACCCCTCGCCTTGCACTTACCTCAGCTGAGTTCCTGGCTTACCAGTGTGAGAAACACGTGCTGGTCATATTGACTGACATGAGCTCTTATGCCGAGGCCTTACGTGAGGTACATTATAATGTTAATTGACAGACATTCAGATTAACATTAAACTCATTATTATCTATTCATTTTTGTGGTCATCTTAAAGGTGTCTGCTGCTAGAGAAGAGGTTCCCGGTCGACGTGGATTTCCAGGTTACATGTACACAGATCTGGCTACAATATATGAGAGGGCTGGACGTGTGGAAGGACGCAATGGATCCATCACTCAAATCCCAATCCTCACTATGCCCAATGATGG[T/C]TGGCAAACTTCTACCTACTCAACTTTTAATTTTTATTTACAGAAATAGTTTACTAAGCCGGGACTATGCCGAAGAAAAAATGATTGAATGAATGAATGAATAATGGTTTAAATTTTTATGTGTTTATTAAAATTTGTATAAGATTCTTTCAATTTTTTTAGGAGTTTATGAGTTTCTTTCTGCCGTTAAACACAAAAGAAAATATTTTGAAAACTGTTGGAAGATATTGACTTTCGTTGTATTTGTTTTTCCTACTTTGGAATGCTTTCAGGTTTTCAGCTTTCTTCATAATATCTTCTTTTGTGATCGACAGAATATAGAAACTCATATAGGTTTGGAAGCACTTGAGGTTAAGGGAACAGTGGTACATTTTCATTTTGGGATCTTTAAGCTCAAAGTATACATGAAGCTTTTCACAGCATACTTTATTTTCATAGTATGCATGAACACAGGCTATAGAAAGAATTGTTCTCGTCCAGTGTTTGGGCTTTTTGTCTCTA

Associated Phenotype:

Not determined