Vps39 - SNV Details



 Gene Information 
Gene Name Vps39
Old Gene Names for Vps39 A230065p22rik , Aw743070
Gene Description vacuolar protein sorting 39 (yeast) [Source:MGI Symbol;Acc:MGI:2443189]
Uniprot Name
CCDS Name
Gene GO
lysosomal membrane; protein binding; intracellular protein transport; vesicle-mediated transport; late endosome membrane; small GTPase regulator activity; HOPS complex
Homolog in other species VPS39
Omim http://omim.org/entry/612188
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027291
Chromosome 2
Coordinate 120,323,128     (Assembly: GRCm38)    
Ref Base C
Codon Change gGt/gAt
Var Base T
Zygosity Heterozygous
Read Depth 24
Allele Frequency
C:R0.33
T:V0.67
Amino Acid Position 644
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL01936
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 0.53
Polyphen Prediction Possibly damaging
Sift Score 0.08
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved