ZMP
psmc4
Ensembl ID:
ZFIN ID:
Description:
proteasome 26S subunit, ATPase, 4 [Source:RefSeq peptide;Acc:NP_956044]
Human Orthologue:
PSMC4
Human Description:
proteasome (prosome, macropain) 26S subunit, ATPase, 4 [Source:HGNC Symbol;Acc:9551]
Mouse Orthologue:
Psmc4
Mouse Description:
proteasome (prosome, macropain) 26S subunit, ATPase, 4 Gene [Source:MGI Symbol;Acc:MGI:1346093]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42793 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa14104 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa42793
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 |
|---|---|---|---|---|---|
| ENSDART00000034078 | Essential Splice Site | 12 | 418 | 1 | 11 |
| ENSDART00000134718 | None | None | 75 | None | 3 |
Genomic Location (Zv9):
Chromosome 16 (position 44574277)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 41854785 |
| GRCz11 | 16 | 41804817 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTACAAGCAAACATGGAGGACGGTGGAGTGTTGGTTGAGAAACCTCAGG[T/C]GAGATCTTATGATGTAATTTTAACAATTTTACTCTTACAAGGCTGGCCTA
Long Flanking Sequence:
AAATGCATTGATTTGGTACATTATTCAAGATATCACTGTTGTTTACACACACACACACACACACACACACACACACACACAGATATTAAAAAAACTACAAGCAGTTTTAAAAAAAAGTTGAAAAAGGCTGTTTTATTTTGAAAATATTTATAATAATGTAAAAGAATGCATAATGTTTTGTGACAACCATGCTATACATATTTATGCAACTTATGCTTGGGATTCTTTAATGGAAAAAACTCAAATTAATAGCATATATTATTGAGTATTTAGACATTTAATCATTACTGTAATTTTGAGCAATTTACTAACATCGCTGCCTAATAAATATGTCTATATCATTCTTCAAAATGTGTCAACCTGTCAACAAAGCAGAGATTGAGAGGTGGCCTTTAGGACCCGGTGGTTATTTGCGGAAATTGATTTACATCCCACGTCGTGACGTCATGTGCTACAAGCAAACATGGAGGACGGTGGAGTGTTGGTTGAGAAACCTCAGG[T/C]GAGATCTTATGATGTAATTTTAACAATTTTACTCTTACAAGGCTGGCCTAAACAGTTTGATCATATATAAATGTTTCTAGTATATGCAAACAATGCCCATATATGACAAGAACACGTGTCTGCAGCGTAAAATAACTGATGAGAAGATGCCGATTCATTCAGCTAGCAGCAAATGCTCAGTCATGCCATTCTCTGACAGCGGCTAATGTTAGCATGTGTGCTCGATTTATAGCAGATAGCCAGATCACAGTGAGCCTGTCAAATTATATTTTCTTTTGCCCATGTTTGTTCTGTATATGTATATTTTACAAAAATACTGACATGAAGTTCATATATTTGTGTTGCAAAATGAAACATCAGTTGAGGTCTTGGTTAGCCATGTAACGTTAGCATAGCAATGAGCTGTGTTTGTGAGTTAGTTACGTTAGATATATCGTTAGATATGTACTAACCTGTGTTTTAACAGTTACACCATAACAGTATGCTGGTAATGCTATCGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14104
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 |
|---|---|---|---|---|---|
| ENSDART00000034078 | Essential Splice Site | 382 | 418 | 11 | 11 |
| ENSDART00000134718 | None | None | 75 | None | 3 |
Genomic Location (Zv9):
Chromosome 16 (position 44564587)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 41845095 |
| GRCz11 | 16 | 41795127 |
KASP Assay ID:
2261-0190.1 (used for ordering genotyping assays)
KASP Sequence:
ACCAAATTTTATGGTTTGTTTACACTGAATCCTCCTTTCTCTTTTAWACR[G/A]GCCGGTATGCTGGCTGTGCGTGAAAACCGCTACATTGTGCTGGCCAAGGA
Long Flanking Sequence:
GAATAAACCCATTTTACATGGGTTACAAGTTATTAAAAAGCAAATGAATGAAAACGCTGTGGATGACAGTCATGAGTTTAATCATTATTTGTGTTTTGCTACTATGCAGTAAAGCGTGAATGGATTGTTTGGTTTTTCTCACAACACTTCCTTTAACAATTGTTAAGTCATTTATTCACTTGAGTGCTTGCAGTTCAAAAGCAATCTGATCATGTGTTTTTGACTACCTCAGAAAGTGTGCTAAAAATACCAAACAGAGCCTTGTTTAAATTTTAGAAGAGGTCTGCATTTGCTCATCAAGCCTGTTTTTGTTGGCATCACCTAAGGAATAATTTGAGTCCAATTTCTTTAAAATTAGCGTAAGCAGTCGAAAGTTATTAACAAATTTGTACGTAAAACAAAAAGGGAGAAAGAATGGTTTAAAACTCTTGACCCATAAGTGGCGCTGTCACCAAATTTTATGGTTTGTTTACACTGAATCCTCCTTTCTCTTTTAAACA[G/A]GCCGGTATGCTGGCTGTGCGTGAAAACCGCTACATTGTGCTGGCCAAGGACTTCGAGAAGGCTTACAAGACTGTTATCAAGAAAGACGAGCAGGAGCACGAGTTTTACAAGTAGAAAACCTCTGGATTAGATATCGACATTATCCTTAACTCTGTTTGTTTCAGCGTTTATTTTGTACTTGCAGTGTAATGCTAAGGACAGGGCACTTGAAGCCTGATGTACATCCGCAGGGTTGCACTGCTTGTACCGGGATTCTCATTTCAGATTCACAGTATATAAAATATGAATGGTCAAAAAACAAACCAACTTGTACATCTGGTGAGCATTTGATGTATTCAGTTTAACAGAAAATAAGAGACACCCATTAACATGTTTTCCATAATGACTCTAAATAAAGATGTTTTTGATAACATCCCGAATGTATGCTGGTAGATGATAGTCTCAATTCACCATGCAGATACTGATACGACTTTTTCAAATTGTAATAGTTAGATTTTATG
Associated Phenotype:
Not determined