Busch Lab

ZMP

psmc3

Ensembl ID:
ENSDARG00000007141
ZFIN ID:
ZDB-GENE-030131-666
Description:
26S protease regulatory subunit 6A [Source:RefSeq peptide;Acc:NP_001002064]
Human Orthologue:
PSMC3
Human Description:
proteasome (prosome, macropain) 26S subunit, ATPase, 3 [Source:HGNC Symbol;Acc:9549]
Mouse Orthologue:
Psmc3
Mouse Description:
proteasome (prosome, macropain) 26S subunit, ATPase 3 Gene [Source:MGI Symbol;Acc:MGI:1098754]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa40961 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa40961
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007913 Essential Splice Site 210 404 7 11
ENSDART00000133705 Essential Splice Site 233 427 7 11
Genomic Location (Zv9):
Chromosome 7 (position 40075609)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 38412249
GRCz11 7 38683507
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGCACAGGAAAGACCCTGCTGGCCAGAGCCTGTGCAGCCCAAACCAAG[G/A]TCAGAGAGAACTGACGATCATCAAAATAACACTGTTGTCAACAATGTTCA
Long Flanking Sequence:
TTCCAAACTGCAGTATATCTTGAAAACTGTTATCATCCCATGCCTAATATGAACTGTCCCTTTAATGTTTAAAAAGCCTGTTTTGCCTAAAAATGTGTTGAATGTCTTGCTTCACCTGTTCACAGGGTGTGAATAAGGACTCCTATCTGATTTTGGAGACTCTACCCACCGAGTATGACTCTCGTGTGAAAGCAATGGAAGTGGATGAGAGGCCTACAGAGCAGTACAGTGACATCGGTGGCCTTGACAAACAAATTCAAGAGGTACAATCTGATTAACTGCCTCAAACCGTAATCCTGTCACTCACAATAGCAGTTTAAACTCTTTTTCTGAGCTTACTGCTTCGCTCTTTGCAGCTGGTGGAGGCGATAGTTCTGCCCATGAACCACAAAGAGAAATTTGAGAATCTGGGCATCCAGCCACCAAAGGGAGTTCTTATGTACGGACCACCAGGCACAGGAAAGACCCTGCTGGCCAGAGCCTGTGCAGCCCAAACCAAG[G/A]TCAGAGAGAACTGACGATCATCAAAATAACACTGTTGTCAACAATGTTCACTTGCAGAATTTTGTGCCAAGGCATGATCTCACGTTTCTGTTACTGTCCTTTTCTCAGGCAACCTTTTTGAAGTTGGCTGGCCCTCAACTGGTCCAGATGTTTATTGGTGATGGTGCCAAATTGGTGCGGGATGCATTTGCTTTGGCTAAGGAGAAGGCTCCCTCCATCATCTTCATTGATGAGTTGGATGCTATTGGCACCAAGCGCTTTGACAGTGAGAAGGCTGGCGACCGAGAGGTGCAAAGGACCATGCTGGAGCTGCTCAATCAGTTAGATGGCTTCCAGCCCAACATGCAAGTGAAGGTACACGCTTGTGTCCAAATGCTTTTCAGTTGTAAACATGCCCGTTTGACCTTCTGTTCTGACTTTTTTGTTTCTTGTCCCTCAAGGTGATTGCTGCCACTAACAGGGTGGATATCCTGGACCCAGCTCTGCTTCGTTCAGGTCGT
Associated Phenotype:
Not determined