Plch1 - SNV Details



 Gene Information 
Gene Name Plch1
Old Gene Names for Plch1 Bc042549 , Plcl3
Gene Description phospholipase C, eta 1 [Source:MGI Symbol;Acc:MGI:2683547]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; lipid metabolic process; membrane; cytoplasm; signal transduction; phosphoric diester hydrolase activity; intracellular membrane-bounded organelle; protein binding; calcium-dependent phospholipase C activity; cytosol; phosphatidylinositol-mediated signaling; lipid catabolic process; signal transducer activity; calcium ion binding; phospholipid binding; phosphatidylinositol phospholipase C activity; nuclear membrane
Homolog in other species PLCH1
Omim http://omim.org/entry/612835
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036834
Chromosome 3
Coordinate 63,697,756     (Assembly: GRCm38)    
Ref Base G
Codon Change Cgc/Agc
Var Base T
Zygosity Heterozygous
Read Depth 53
Allele Frequency
G:R0.70
T:V0.30
Amino Acid Position 1575
Amino Acid Change R->S (Arginine -> Serine)
Sample ID IGL02411
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved