ZMP
si:ch211-106a19.2
Ensembl ID:
ZFIN ID:
Description:
V-type proton ATPase 116 kDa subunit a isoform 2 [Source:RefSeq peptide;Acc:NP_001116219]
Human Orthologue:
ATP6V0A2
Human Description:
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Mouse Orthologue:
Atp6v0a2
Mouse Description:
ATPase, H+ transporting, lysosomal V0 subunit A2 Gene [Source:MGI Symbol;Acc:MGI:104855]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45200 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa33591 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa33592 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa40421 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45200
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 |
|---|---|---|---|---|---|
| ENSDART00000029699 | Nonsense | 4 | 849 | 1 | 20 |
The following transcripts of ENSDARG00000035565 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 26213314)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24040579 |
| GRCz11 | 5 | 24544379 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAACACTTCACTTGTGTGGAGAGGAGCCGTTTGATCACCATGGGTTCGT[T/A]GTTTCGGAGTGAGGAGATGTGTCTGGCCCAGCTCTTCCTGCAGTCCGGCT
Long Flanking Sequence:
AAATGACTAACAACTGCAGGTAAACATTACAGAATTGTCTGTAAAATGATAACGAGGAGATAAACACACCGTGAGCAAATAATTAATTGAGAGGACAAGCACCTTCGGCTGTAGCTCTCTTGCTCGCTGCTATTCGGACCGAAGACAGCACGGAAAGTGGCTTTTATACACAGTCGGTGCGGTAGGACTTAAACCGAACTTTAGTGATGGAGGACCCAACAGTACCGGAAACTGGGATTTAATTTGAATAAAGACTATCAGCTTGATTACAGCGGTCGTGTGAGGCTGTCTGGACTGAAGACGGGAGACGTGTCACTGATAAAGCGGCTGAAGTTAAAGCCCCAGCGCGGACATCCAGTCATCACTCCGGTCCGCCCCAGTGCAAGAGTCAATCCATCACATAACCTTCACCTGTAGGATATTTATTTACTTTTGGCTTAATAACACTCCCTAACACTTCACTTGTGTGGAGAGGAGCCGTTTGATCACCATGGGTTCGT[T/A]GTTTCGGAGTGAGGAGATGTGTCTGGCCCAGCTCTTCCTGCAGTCCGGCTCCGCGTATGACTGCATCAGTGAACTCGGAGAGCTCGGCCTGGTGGAGTTCAGAGATGTGAGTCAAACCTGTTGTTCATATATTTCTATTTTTAAACGCTGTTAAACTTGTGTTGAGTTTACAGTCTCCCACTCATCTGTTTTGGTCAAATAGCTACTGTTTAATAACACCAACAAGTTTTTTTAGACCATAACTTAACAGAACGTATTGTTATTATTGTGGTGTGGTGCCTACATTTAATTTTGAATAAATATTTTCCCCTTCCACAAATGTCATTCGTATCAGTATATAAAATGATCCTTAAATATTTTATCATTGTTCTATTGTGTTTTAATGTTATTTGTTTAATAATACATGTAATTATGTTTAGTTGTATTGCTTGTTTATTTATTGTTCTTCTTGTTTAATGTATGCAGTGCTATGAAAGTATTGTATTCAGTTTATTGATTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33591
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000029699 | Nonsense | 151 | 849 | 5 | 20 |
The following transcripts of ENSDARG00000035565 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 26216555)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24043820 |
| GRCz11 | 5 | 24547620 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCCTGCTTGGTTTTTGCTTGTGTGGGAGCAGAGAGAGTCAACACAGGGC[C/T]AGTATGAAGAATTCCCCTTTCTAGAGAAAGAACCCATGATGGACTACACC
Long Flanking Sequence:
CATATTGATATCAGTTGTTCATGCTTCCAGATTTAACAGTACACCAACAATGACTAAAGCCATAAAAATTTGAGTCCATTAAATGGCCTAACATTTTCGGCTGATAAATTTTCCATGGCTGAAAGTTTGGTGCATCTTTAATATCAACACACTTTTAGATTCCCAATGTTGCACATTTCTGCTTTGTGATTGGCTCTGAGATCAATACAGAGTAAAAAAGTCATTGTCATTATGTGGTCTGTATTGTCTCTCCAATGTTACAGTTTTAAGCCGGTTGTAACATTGTTATTGACACAAATTTTAAACACGATTCGATATAATATCGTTTATCGGCCCAACCCTAGCGGTGTGGTTGGAATATACACCACTTGAACAGTGTAAAAATAAGTTTGTCTGTGAAAGGTCCCAATAAAACATAAAAACATGGACCTGCTTATGTGTATATCTTATCCCCTGCTTGGTTTTTGCTTGTGTGGGAGCAGAGAGAGTCAACACAGGGC[C/T]AGTATGAAGAATTCCCCTTTCTAGAGAAAGAACCCATGATGGACTACACCAGCATGCAGAGGCTTGGAGCCAAGCTTGGGTGAGCAGTGTTTAAAACATTAACCTTTGTCATGACCTTTGACCTTAATTTTGAACGCTTTTTGCTGATGTCGGTCCACATGTGGATATGTTTCCCCCTTTTGCAAAGATCTATTTTTGACTTGATTATGATAGAGCAGTTGATATTGACAAGAAGTGAAGTTGGAGAGAAACGTGGGGGTGGGATCAGGATGGGTTTGTGAGTTGGGATTCACATTCTAGATGTCTGAAGAGCAGCTGTGCTACAAAAAAAGTTTTTTATTTTATTTATTTATTTTTTTTACTTTAGGTCTCTTTTCAATTATGTGTATTCTCACTCTCATTAGCAAATTAGTCTATTTTTAGGTTAGTCATAGTTGATAATATTGACACATAAGCAGAAATTAGTAGCATAGAGTGACGTTTGTTAGCTTTTTTACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33592
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000029699 | Essential Splice Site | 247 | 849 | 8 | 20 |
The following transcripts of ENSDARG00000035565 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 26218208)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24045473 |
| GRCz11 | 5 | 24549273 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTACTGTATTTTTAAGTTAAAATTGCTGATCAGAAACTTTTGTGTCTGT[A/G]GCTACCACTGTCACCTGTACCCATACCCCAACAGTAATGAGGAGAGGACC
Long Flanking Sequence:
TCAACCGGTGGGACCAGATTGTTTTTACCCGTTGTACAATCAGTTCGAGAGATTCTCCAGGGTGACATACCACTTTTTAATACTTGGAATGGTGAAGATTACCTCCCACACATTTACATTTGTAAAAGCACTTTAACTATGAAGCTTGTTTTATAGGATTGTGTTGGTTTTAATTCTGTGAGGAATTTATTTCATTCATTTCATTCTTTTGAAGGGATGTTTAACACTGTTTATCTAAATCCTGTTGTAGAGCTTTGAGCAAACATAAATTGTAAAACCTTAATATAATCTGTGTCTCCAGTATATGTTCTCTCAATAAAATGAAAGAAATTAAAATAATAAATTAAATAAAAATGTTCATAGAAGCTGGCATCGCACTAAACACAAACAACAGGAAGCTTTTTGACTTTCATTCCTTTTTAATTTTATTGTTTTTGAAAATGTATAATCTTTACTGTATTTTTAAGTTAAAATTGCTGATCAGAAACTTTTGTGTCTGT[A/G]GCTACCACTGTCACCTGTACCCATACCCCAACAGTAATGAGGAGAGGACCGATGTGGTGGAGGGCCTCCGAACACGCATTCAGGACTTGCACACAGTGAGTCAAGATGTTTTGCACTAATCAGTGCACTTTGCTCTTGTTCAATTTTTTTTATCTTTTTTTTGGTTTTACACTGTGAATCACCAATGTGGGTGAAAGTGTGATCTCACTATTCGATGCATTATACAGATTCCTGTCAACTGGCACCATTACAAATGTTAGAATTGTTGCACATATTTTGCTTGCTTTAAGTAAATTGCATTTCATGAGTTGCTATGGATTGTAATTCATAGCATATTAAAGAAAAAAAAAACTACTAAAACTTGTATTCTATAAAAACTTTGGTGTTCTTTCATATAAATATACTCGTAAAAATTCAAATATACTTGTGTAAAGTTACCTTACAAATTACAAATAACCTATAATAACACTTTATCATAAGAAATATGATAAATTATTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40421
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 |
|---|---|---|---|---|---|
| ENSDART00000029699 | Nonsense | 636 | 849 | 15 | 20 |
The following transcripts of ENSDARG00000035565 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 26226140)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24053405 |
| GRCz11 | 5 | 24557205 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTTTATCAACATGTTCCTGATGATGGGCGACTCTGGCCGACCACTCTA[T/A]CCAGGACAGGTGAGAGTCAAGCAATCATGATGAACAGAATGCTTCATTTC
Long Flanking Sequence:
CAGGCCATTTCCTGAACTAAGAATGCGTCGAGTCACTTTATTTTAACCTTAGCTGAATAAAAGTAATTCGCTTTGTTATGTTGTTCTTTGTAGATCTGGAACCTGGCATCAAACCGTCTCACCTTCCTAAACTCCTATAAGATGAAGATGTCTGTGATTGTAGGAATAATCCACATGACGTTTGGAGTCGTCCTTGGCATTTTCAATCACTTGTGAGTCTTACATTTTTTAATAGTTCAATATAAGATTTAATGACTTCTAACTCTTCAAATGTTTTTTTTTTTTTTTTTTTTGCGCAGGCACTTCAGACGGACAATCAATGTGTACCTGATTTTTCTTCCCGAGCTGCTCTTTCTGCTGTGTCTCTTCGGTTATCTGGTGTTCATGATCATCTATAAGTGGCTCTTCTTCACAGTCAGAGATTCTCAGACAGCTCCCAGCATCCTCATCCACTTTATCAACATGTTCCTGATGATGGGCGACTCTGGCCGACCACTCTA[T/A]CCAGGACAGGTGAGAGTCAAGCAATCATGATGAACAGAATGCTTCATTTCTATGCTTGTTTTTATTTATTTATTCTGTTTCCTATAGGCTGGATTTCAAGTGTTCTTGGTGATCGTTGCTGTGTTTTCTGTGCCTGTGTTATTATTTGGTAAACCCCTCTACATCTACTGGCAACACAAGGGCAGAGACCGCCTGAGCATGTACAGGGTGAGGATTCTCTTGTTTGTAGTAATCAGACCCCTCTAGTTTTTCACAATTCCGCTATCGCGGAAAATTTAAATAATCTCATAAAACATCCAATTCCAAACCATATAATCAAAACATACTTATTTTAGTTTGCAATGAATTGTTTTACGTGACTTATAGAGGTTGCATACGCAACGCACATGATGTATTTAAGTGTCTCTCGAAAAATGACGTCTCATGTTCGCCCTCACAATCATCACATTACGTGAGAGTGGGGGAATTGTTTTGCAGCCTGTGCAGTTAGCAGATGCAGA
Associated Phenotype:
Not determined