ZMP
atp6v0a1a
Ensembl ID:
ZFIN ID:
Description:
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:RefSeq peptide;Acc:NP_997837]
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 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19970 | Essential Splice Site | Available for shipment | Available now |
sa26028 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa19971 | Essential Splice Site | Available for shipment | Available now |
sa33125 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19970
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000017646 | Essential Splice Site | 39 | 834 | 2 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 16549657)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 16779876 |
GRCz11 | 3 | 16929676 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGCTGTGTCAGTGAGCTGGGGGAGATCGGCATGGTGCAGTTCAGAGAT[G/A]TAAGTGCAGACCATTTCATTATGTAACATTGACCTCATTGTCATCAGATG
Long Flanking Sequence:
TCAAATAGGGCACAATTTAAGGTTATAGGTGGCGATCACGGATTTCAGCCCATCGTGTCACTTAGTATCTTATTATTCATCTAAATAGTTGTCATAAATACATGTTAGTAGCCTTAGCTTGTAGTCAAAGTTGATACTACATAGCTGCTGTTTTGATATAATCTACAAGCTGAATGACCTCTGTATATTACACTTTCAAAACAGAACATTCACATGATTCTCATGACTTTCTAAACAAACCACGGTATTAATTCATAAAATGCAAGTGACTTAACCGCATTATTGTCATTCTCCGTTTATTTGCATGAGGCCTTCATATTTTTCCTCACTCTATTTCCTCAGGTGCTTCTCCCCTTAGTGCATTGGGTTAAGAGCAGTGCATTATGGGGGAGCTGTTTCGTAGCGAGGAGATGACCCTGGCCCAGCTCTTTCTCCAGTCAGAGTCTGCATACTGCTGTGTCAGTGAGCTGGGGGAGATCGGCATGGTGCAGTTCAGAGAT[G/A]TAAGTGCAGACCATTTCATTATGTAACATTGACCTCATTGTCATCAGATGTCAGCATTACAATCCACAACATTCCTGATTCCTGAACTAACAAAAAGTGTTCCCATTTCTGAAAAAAAAGGAAACCATGAGTGGAGTCCAGTGAAAAGCAGTGCAGTATTAACAATTGTAGGATATGTAGCTCATCGTTTATCTCCAGCAGGGGAAGATTTCCAAACAGTGATTACTTAAGAGTAGAGTTTAGTGAGCTAATGGAGTATTTCTGCAGTCTCTAAACGTTAGATGTGTCCCATTGAAATGAAAGTTACATGCTTGCAGTATTTAGCTTAGTATTAATGTGAACAGTTAATGGAATTTATGCAGAGGAAATGCATACCATAGCCTTTTTTTGTGTAGATGCACTGGAAGCTGAGTTTTTGTTTTTAAAAGGAAAATCCTCCTCGTCCAAACTGGGGTTTTTATTACATTTCAGGAAAACAATCTGTCCACTACAGCCTAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26028
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000017646 | Nonsense | 283 | 834 | 10 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 16568722)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 16798941 |
GRCz11 | 3 | 16948741 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTACTTCCAGGTGCTGAACCAGACAGAGGATCACAGGCAGCGTGTTT[T/A]GCAGGCAGCTGCCAAAACTGTCCGAGTGTGGTTCATCAAGGTCCGCAAGA
Long Flanking Sequence:
AAAAACAGTTCATATGTTGGCTGCATCATGGCCAAAATGCTGTTCTTGACCACGGACTGCAGGGGGTTGCAAACTTGCATTCACACTAAAAACGTGTTTTTTCTCATTAAAAAACAGAAACTGAAACTAGGATATGCAGATAAGACATTGATCATGTTATGAAAATATTGACGTATTAAAAATCCTGAGGTCAAAGAGGTTACATTAAATGGCCAATCAGTGTGATTTCTCTCTACTATACTGCATCTTCAAAGGCCAATTCAGTATGCCAATGTGTGTATTATGCCACAAAAACTAGCCAGAAAGACCCTCAGTTTTGGCCAACTACTGATAATGTGCTTCGGGCACAAACATTTTAAGGATACAGTCAGGTTTAACTAACTAATTCCTGAGAATATTCATTTCTAATAATGTTACTGTATCACCATTGTCCATTGATCTCACATTTCTGCTCTACTTCCAGGTGCTGAACCAGACAGAGGATCACAGGCAGCGTGTTT[T/A]GCAGGCAGCTGCCAAAACTGTCCGAGTGTGGTTCATCAAGGTCCGCAAGATGAAAGCCATTTATCACACACTCAACCTCTGCAACATTGATGTCACCCAGAAGTGTCTGATCGCTGAGATCTGGTGCCCTGTGTCCGATCTAGACTCCATTCAGTTTGCACTCCGTCGTGGCACGGTGAGGAGATACACATCTACTACACACACATACATTTAGTTTGATGTTTCTATAAAACTACTTATAATATGTAGCCAGTCTCATGTTCTACAGACTGCTCATCCTTATAGCAGTAGACTGATTCAAGAAATTCAAATCACCAGCGAAACTTTCTGTTAGTATAATTGCATATACTGTATAATGACCACATCATTGATAAATTAATTGAATTTCTATTGCAGTAGGAAGACATTAACTGTCATTAAAGTGTAGAATCTAATCTCACATCCATATCTTAAATATTTTGGTTATCCTGTAATCTTGTCATTTGAACTCTAGACTGTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19971
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000017646 | Essential Splice Site | 392 | 834 | 11 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 16576234)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 16806453 |
GRCz11 | 3 | 16956253 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTATCGTTGATGCATACGGCATCAGCAACTACCGGGAGATGAACCCAGG[T/A]AACTCTGACCTCTCACCTTCAGAGTCAATCACACTTTAAAATAAGGTTTC
Long Flanking Sequence:
ACCTTAGATTAATAAAGGGAGTAAGCGGAAAAGAAAATGAATGAACGGATACATTAACTAACTTTAAATACATGTCGCATATTGTAAAGTGTTACTGTAAATTCTGACATTTTTTCCAAAGTTTTCAAAGTTATTAAGCTTCCTTTTGAAATTTCATGGATAAACTGTGATGAGAATAATTATACGTCATTACATACCTTACTTATATATACTGTGTACTTCACCTATTTAATAATTAAACAGAAATTGCACCCATAACTCACAAATCATCTCTGAAAAAATGTGTATAGCTGTGCCACTGTTAAAAGAGAAGTTTGTTTTTGTTAAAAATCACTCCATTTCATGCAGGAGAGAAGTGGATCCACCGTTCCCTCCATCCTGAACAGAATGCAGACCAAACAGACGCCCCCCACCTACAACAAAACCAACAAGTTCACCTCTGGCTTTCAGAGTATCGTTGATGCATACGGCATCAGCAACTACCGGGAGATGAACCCAGG[T/A]AACTCTGACCTCTCACCTTCAGAGTCAATCACACTTTAAAATAAGGTTTCATTAGTTAATATATTTACTAACATGAACTAACTATGAACAATACCTGTACAGCATTTATTAATCATAGTTAACATCCAAATTCATGCTTGTTTACAATAGTTATTGCACTGTGAATTGACATGAACTAACAGTGAATCATTTTATTGTTTTAACTAACTCGCATGGATGAATACAACCGTATTGTAATGTGTTATGAATCTTCAGGGTTGTAAGAATCTTCAGGGGTCTTATTTATAAAACTTTGCATAGAAACCTTCCTAAAAGTGAATAAATACAGAATAAATTTAAATTTATGAATAGCTCATATGCTTATTTAAAGTGATTAAATTCAGTTAATATTGAAGTTAAAGATGTTTACTTACAGCTGTGCACGTTCTCCCATCAATTTTGTTTTTTATGTATCACAACTTTTGCATGGGGAATGATGTATGCATGTTTACACCCCTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33125
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000017646 | Essential Splice Site | 523 | 834 | 14 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 16580963)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 16811182 |
GRCz11 | 3 | 16960982 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTGTTCCTAATGTGTTTACTGGACCGTATCCTGTCGGCATTGACCCAG[T/G]AAGCTCCTATTCTCCAAACAATACTGTACCATAATGATTCCAACCCCATT
Long Flanking Sequence:
TTATATTGATTATATAAACTGTTTTGTTTTGTTTTCTGAGAGAGTGTTTCTACAGGTGGTTTTTCAAGCCCACTTACCTGTTAAGCACATTTCATCAATGCACGTGAATGTTTTTTTTTTTTTTTTTGTGCAGTTTTTGCAGTTAAATGGTTTAAATGGCCATTATCAAACATGTTTCTTTCAAGCTATTTTGAAAATGCTGCATTAGCAAAAAATATTCTGCTCTACATGTCAGTCAAAATTGCTTTCAAAGTGAGAAAAAAAATCTATTAAAATTTGTTAATTTTACATGCTGTCACTTTTTCACATTGACTTAAAAAATCTGAATCAGCTATCGGTGCATCTCTAGATCTTCATGCATGACCTTTATTTTATGATCACTTTAAACACTGATTTTCCCTTTAACAGATTTGCAGTTCTGGAGAAAAGCAATGTGTTACAGCTGAACCCTGCTGTTCCTAATGTGTTTACTGGACCGTATCCTGTCGGCATTGACCCAG[T/G]AAGCTCCTATTCTCCAAACAATACTGTACCATAATGATTCCAACCCCATTTCTTTTAAAAACAACACTTTTTCCTCTGTCCTTTCACAGATCTGGAACATTGCCACCAACAAGCTGACGTTTCTGAACTCCTTCAAGATGAAGATGTCAATAATTCTGGGAGTTATACACATGATATTTGGAGTTTCCCTCAGTCTTTTCAATCACCTGTACGCAAAAAGTCCACTGTTACTTTCAGCATATATGCATTAGATTTTTTTGATCCTAATTATGTTTGTCTGTGTGCGAAGGTACTTTCGTAAACCTCTGAACATCTACCTGGGATTTATTCCGGAGATCATCTTCATGGTCAGCCTGTTTGGCTACCTGGTGCTGCTCATTTTTTACAAGTGGATAGCGTATGATGCTAAAAGCTCAAGAGTAGCCCCGAGTCTTCTTATAACCTTCATCAACATGTGCCTCTTCAGCTACAATGATCCCACCAACAAACCGTTTTATACG
Associated Phenotype:
Not determined