Plcb1 - SNV Details



 Human Rare Diseases 
Early infantile epileptic encephalopathy
Malignant migrating partial seizures of infancy

 Gene Information 
Gene Name Plcb1
Old Gene Names for Plcb1 Ai132408
Gene Description phospholipase C, beta 1 [Source:MGI Symbol;Acc:MGI:97613]
MGI phenotype Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo.
Uniprot Name
CCDS Name
Gene GO
glutamate receptor signaling pathway; negative regulation of transcription
DNA-dependent; positive regulation of acrosome reaction; intracellular signal transduction; enzyme binding; lipid metabolic process; phosphatidylinositol metabolic process; interleukin-12-mediated signaling pathway; positive regulation of JNK cascade; cytoplasm; lamin binding; regulation of G-protein coupled receptor protein signaling pathway; signal transduction; cell adhesion; positive regulation of GTPase activity; positive regulation of interleukin-12 production; insulin receptor signaling pathway; interleukin-15-mediated signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; response to organic nitrogen; negative regulation of monocyte extravasation; protein homodimerization activity; phosphoric diester hydrolase activity; protein binding; fat cell differentiation; nuclear speck; GTPase activator activity; nucleus; response to monosaccharide stimulus; cytosol; positive regulation of transcription
DNA-dependent; positive regulation of embryonic development; activation of meiosis involved in egg activation; calmodulin binding; cerebral cortex development; erythrocyte differentiation; positive regulation of developmental growth; G2/M transition of mitotic cell cycle; lipid catabolic process; phosphatidylinositol-4
5-bisphosphate binding; macrophage differentiation; regulation of fertilization; plasma membrane; nuclear chromatin; signal transducer activity; memory; positive regulation of sodium:hydrogen antiporter activity; mRNA processing; learning; calcium ion binding; G1 phase; positive regulation of CD24 biosynthetic process; oocyte maturation; positive regulation of myoblast differentiation; phosphatidylinositol phospholipase C activity; interleukin-1-mediated signaling pathway; nuclear membrane; brain development; insulin-like growth factor receptor signaling pathway
Homolog in other species PLCB1
Omim http://omim.org/entry/607120
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN OLFACTORYBULB)
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051177
Chromosome 2
Coordinate 135,220,791     (Assembly: GRCm38)    
Ref Base A
Codon Change tAt/tTt
Var Base T
Zygosity Heterozygous
Read Depth 10
Allele Frequency
A:R0.60
T:V0.40
Amino Acid Position 107
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL01945
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.42
Polyphen Prediction Benign
Sift Score 0.15
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000105743:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta PLC-beta IPR016280 ENSMUSP00000105743 PIRSF 1
1163 Description available Search pathways

 Availability Details 
Availability Cryopreserved