Pcyox1 - SNV Details



 Gene Information 
Gene Name Pcyox1
Gene Description prenylcysteine oxidase 1 [Source:MGI Symbol;Acc:MGI:1914131]
MGI phenotype Mice homozygous for a knock-out allele are viable, fertile and free of obvious pathology despite a striking accumulation of both farnesylcysteine and geranylgeranylcysteine in brain and liver.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; prenylated protein catabolic process; chloride-transporting ATPase activity; lysosome; oxidoreductase activity
acting on a sulfur group of donors
oxygen as acceptor; chloride transport; prenylcysteine oxidase activity; plasma membrane; prenylcysteine catabolic process; very-low-density lipoprotein particle
Homolog in other species PCYOX1
Omim http://omim.org/entry/610995
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029998
Chromosome 6
Coordinate 86,392,268     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Position 123
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02008
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.15
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved