Pias3 - SNV Details



 Gene Information 
Gene Name Pias3
Gene Description protein inhibitor of activated STAT 3 [Source:MGI Symbol;Acc:MGI:1913126]
Uniprot Name
CCDS Name
Gene GO
enzyme binding; transcription
DNA-dependent; response to hormone stimulus; cytoplasm; positive regulation of protein sumoylation; protein C-terminus binding; zinc ion binding; positive regulation of membrane potential; protein binding; synapse; nucleus; regulation of transcription
DNA-dependent; nucleic acid binding; dendrite; SUMO ligase activity; protein sumoylation; protein N-terminus binding; positive regulation of gene expression; potassium channel regulator activity
Homolog in other species PIAS3
Omim http://omim.org/entry/605987
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028101
Chromosome 3
Coordinate 96,703,575     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttc/Ctc
Var Base C
Zygosity Heterozygous
Read Depth 55
Allele Frequency
T:R0.67
C:V0.33
Amino Acid Position 390
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01370
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.2
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved