Psme4 - SNV Details



 Gene Information 
Gene Name Psme4
Old Gene Names for Psme4 Au041366 , Aa409398
Gene Description proteasome (prosome, macropain) activator subunit 4 [Source:MGI Symbol;Acc:MGI:2143994]
MGI phenotype Mice homozygous for a knock-out allele show normal repair of DNA double-strand breaks but exhibit significantly reduced male fertility due to defects in spermatogenesis observed in both meiotic spermatocytes and postmeiotic haploid spermatids.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; spermatogenesis; proteasome complex; nuclear speck; binding; multicellular organismal development
Homolog in other species PSME4
Omim http://omim.org/entry/607705
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000040850
Chromosome 11
Coordinate 30,821,079     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.66
C:V0.34
Amino Acid Change Disrupted splicing
Sample ID IGL00401
Median Base Quality 36.5
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved