Vps18 - SNV Details



 Gene Information 
Gene Name Vps18
Old Gene Names for Vps18 9930024e13rik
Gene Description vacuolar protein sorting 18 (yeast) [Source:MGI Symbol;Acc:MGI:2443626]
Uniprot Name
CCDS Name
Gene GO
early endosome; lysosomal membrane; metal ion binding; actin filament; protein binding; intracellular protein transport; vesicle-mediated transport; late endosome membrane; endosome organization; lysosome organization; HOPS complex; actin binding
Homolog in other species VPS18
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034216
Chromosome 2
Coordinate 119,293,810     (Assembly: GRCm38)    
Ref Base A
Codon Change aAc/aGc
Var Base G
Zygosity Heterozygous
Read Depth 40
Allele Frequency
A:R0.65
G:V0.35
Amino Acid Position 406
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02332
Median Base Quality 35
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.31
Polyphen Prediction Benign
Sift Score 0.43
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved