ZMP
psma2
Ensembl ID:
ZFIN ID:
Description:
proteasome alpha 2 subunit [Source:RefSeq peptide;Acc:NP_001019612]
Human Orthologue:
PSMA2
Human Description:
proteasome (prosome, macropain) subunit, alpha type, 2 [Source:HGNC Symbol;Acc:9531]
Mouse Orthologue:
Psma2
Mouse Description:
proteasome (prosome, macropain) subunit, alpha type 2 Gene [Source:MGI Symbol;Acc:MGI:104885]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39125 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa28732 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39125
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058680 | Essential Splice Site | 40 | 234 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 16 (position 46262427)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 43440211 |
| GRCz11 | 16 | 43343969 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGCTCTGGCAGCTGTAGCTGCTGGTGCTCCTTCAGTTGGAATTAAAGG[T/C]TGGAACAATATATTTTCTTATTTATTTTATTAATTTTGCATGGCCTATAA
Long Flanking Sequence:
TTCCTGTTGGTGCATTAATATAACTTAAGCATGCACCTGAATAAGCTTTTTATGAGGACCATTTAACGTCTATATATAAAACACAAATAATGAAATGTAACTAAAACTACAGTTTGTCATTTACGTATGTGACGTTTATGTATAAGTGCATACTATTACACTAATGTTTTAATTTATCCGATTTAATAGGATTATTATGATAGGATATTTAATAATACTAACTTATTTGCGTATTTTTGCATTTACAAATGCTTTGTGCATGTCATAGCAAAGTTAAAAAGTAAAAGTATTAGTAATAGTAGAAGTTTTTCTTTGGCAAACTTGTTTTTGAGCAATAAACTATAGCATTCATTGACTCAAATCATCATTGTATTAGTCTTTGCAGAGAGTTTTTAAATATTGTGTGTGTTTTTCATTTCCAGCCCTTCTGGGAAGTTGGTCCAGATTGAATATGCTCTGGCAGCTGTAGCTGCTGGTGCTCCTTCAGTTGGAATTAAAGG[T/C]TGGAACAATATATTTTCTTATTTATTTTATTAATTTTGCATGGCCTATAAAACTTGAATACTATAAGTAAATACTACAATAAAAAGAAAAATATATACTTGTCCACAGGCCAGACGAGATGTGTGTGACTTCTTTATTTTCTTTATTTCTTTTCTTTCTTTATAGCTGAATCCTGTAGTTTATTTAAGGTTTCACCATGTACTTATTCAGAATTTCATTTCCGTGAGTAACTTACAGTTAGTCACTGCTCCGTTCACTTTCATTTCATCCTGTTTTCTCTTTCACAGCTTCAAATGGTGTTGTTCTGGCCACAGAAAAGAAGCAGAAATCTATACTGTATGATGAGCAGAGTGTGCACAAAGTAGAGCCCATAACCAAACACATCGGTATGGTCTACAGCGGCATGGGTCCAGACTACAGGTATGAGTTTGGAGCCTGCATGACCAAACACCATTTTAAAAATAATTATTGTTAAGCGTATATTCAGATTGTGTTAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa28732
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 |
|---|---|---|---|---|---|
| ENSDART00000058680 | Nonsense | 91 | 234 | 4 | 8 |
Genomic Location (Zv9):
Chromosome 16 (position 46263274)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 43439364 |
| GRCz11 | 16 | 43343122 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTTGTAAAAGTGTTTAATTATGTCTGCAGGGTTCTTGTGCGAAGGGCA[C/T]GAAAGCTGGCTCAGCAGTACTTCTTGGTCTATCAGGAGCCAATTCCTACA
Long Flanking Sequence:
CAGAGTGTGCACAAAGTAGAGCCCATAACCAAACACATCGGTATGGTCTACAGCGGCATGGGTCCAGACTACAGGTATGAGTTTGGAGCCTGCATGACCAAACACCATTTTAAAAATAATTATTGTTAAGCGTATATTCAGATTGTGTTAAATAGACAGTTCTCTAAAAAAAATAATTTAGTCACTCTCAGGTTGTTCTTTTATATATATTTTTTTGTTTATTATAAAACAAGTTGTTGAAAAAAGTGTTGGGGAAAAAATGCTTTTGACCTGCATAGTAGGACCAAACAAATACTATGGAAGTCAATGGCTGTTTTTTTCCATCATTCTTTAGTATGATGATACAAACTCAATTTAAAATGTAAAATTTTGGGTGAACTAACCCTTTATCATCTTCAGCTGGATTGTGCATATTCTTATATGTAAACCACAGAAGTTGGATATGTCATGTTGTTGTAAAAGTGTTTAATTATGTCTGCAGGGTTCTTGTGCGAAGGGCA[C/T]GAAAGCTGGCTCAGCAGTACTTCTTGGTCTATCAGGAGCCAATTCCTACAGGCCAGCTTGTTCAGAGAGTGGCCTCTGTCATGCAAGAGTACACACAATCAGGGTATGCTTGATTGTTATTCGCAGACCAATGTTATTACTGCAAGTAGGCCTGTCATAATATCTATTTTTAGTTGTATTATATATTACACCAAAATATATTGCGAATAATTATGCTATTGTTATTGGAAGACCATTTTATGCCACTCATTATATAATGCCAGAATGAAAATATAATATCATCGCAATGCAAGTACACTCTTCCCAAGAACACATCATGTTTCATTAGTAAGAATATTTGATTTAATTATAGTCATTTTAACAATTTAATAATTAAGCATTGGAATCAGAATGTAAAAATGCTTATCCTAATAATAAATGTTAACAAAAAAGTGCAAGGTAAAAAGTAATAGAGGCTGTGAAATCTGCTAACAGATATATTTTCAGTTGTCAGACACCCA
Associated Phenotype:
Not determined