Enpp3 - SNV Details



 Gene Information 
Gene Name Enpp3
Old Gene Names for Enpp3 Ai876438
Gene Description ectonucleotide pyrophosphatase/phosphodiesterase 3 [Source:MGI Symbol;Acc:MGI:2143702]
Uniprot Name
CCDS Name
Gene GO
phosphate-containing compound metabolic process; perinuclear region of cytoplasm; catalytic activity; integral to membrane; hydrolase activity; metal ion binding; immune response; nucleoside-triphosphate diphosphatase activity; metabolic process; phosphodiesterase I activity; polysaccharide binding; extracellular region; NADH pyrophosphatase activity; nucleic acid binding; nucleoside triphosphate catabolic process; scavenger receptor activity
Homolog in other species ENPP3
Omim http://omim.org/entry/602182
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019989
Chromosome 10
Coordinate 24,774,002     (Assembly: GRCm38)    
Ref Base T
Codon Change gAg/gGg
Var Base C
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Position 842
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02152
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 63 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved