Psmg2 - SNV Details




Date removed: 03/12/2013
 Gene Information 
Gene Name Psmg2
Old Gene Names for Psmg2 Tnfsf5ip1 , 1700017i17rik , Clast3 , Aw545363
Gene Description proteasome (prosome, macropain) assembly chaperone 2 [Source:MGI Symbol;Acc:MGI:1922901]
Uniprot Name
CCDS Name
Gene GO
apoptotic process; regulation of cell cycle; mitotic cell cycle spindle assembly checkpoint; proteasome assembly; protein binding; nucleus; regulation of apoptotic process; molecular_function
Homolog in other species PSMG2
Omim http://omim.org/entry/609702
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024537
Chromosome 18
Coordinate 67,653,223     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtc/Atc
Var Base A
Zygosity Heterozygous
Read Depth 42
Allele Frequency
G:R0.60
A:V0.40
Amino Acid Position 218
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL01550
Median Base Quality 40
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.33
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000025418:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Proteasome assembly chaperone 2 Proteasome_assmbl_chaperone_2 IPR019151 ENSMUSP00000025418 Pfam 17
226 Description available Search pathways
Proteasome assembly chaperone 2, eukaryotic Proteasome_assmbl_chp_2_euk IPR016562 ENSMUSP00000025418 PIRSF 1
261 Description available Search pathways

 Availability Details 
Availability Cryopreserved