BC061194 - SNV Details



 Gene Information 
Gene Name Bc061194
Gene Description cDNA sequence BC061194 [Source:MGI Symbol;Acc:MGI:3040687]
Uniprot Name
CCDS Name
Gene GO
protein binding; binding; protein binding involved in protein folding; microtubule cytoskeleton; biological_process; molecular_function
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037708
Chromosome 2
Coordinate 18,733,083     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Ttt
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
G:R0.55
T:V0.45
Amino Acid Position 255
Amino Acid Change V->F (Valine -> Phenylalanine)
Sample ID IGL02795
Median Base Quality 37
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.08
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000092751:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
26S proteasome non-ATPase regulatory subunit 5 26S_Psome_nonATP_su5 IPR019538 ENSMUSP00000092751 Pfam 138
353 Description available Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000092751 Superfamily 34
495 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved