Phlpp1 - SNV Details



 Gene Information 
Gene Name Phlpp1
Old Gene Names for Phlpp1 Phlpp , Ai836256 , Plekhe1
Gene Description PH domain and leucine rich repeat protein phosphatase 1 [Source:MGI Symbol;Acc:MGI:2138327]
MGI phenotype Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.
Uniprot Name
CCDS Name
Gene GO
apoptosis
catalytic activity
circadian rhythm
cytoplasm
hydrolase activity
membrane
metal ion binding
nucleus
phosphoprotein phosphatase activity
protein binding
Homolog in other species PHLPP1
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044340
Chromosome 1
Coordinate 106,339,448     (Assembly: GRCm38)    
Ref Base C
Codon Change aCg/aTg
Var Base T
Zygosity Heterozygous
Read Depth 59
Allele Frequency
C:0.58
T:0.42
Amino Acid Position 697
Amino Acid Change T->M (Threonine -> Methionine)
Sample ID IGL00848
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000056530:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Leucine-rich repeat, typical subtype Leu-rich_rpt_typical-subtyp IPR003591 ENSMUSP00000056530 Smart 692
714 Description available Search pathways

 Availability Details 
Availability Cryopreserved