Pias4 - SNV Details



 Gene Information 
Gene Name Pias4
Gene Description protein inhibitor of activated STAT 4 [Source:MGI Symbol;Acc:MGI:2136940]
MGI phenotype Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background.
Uniprot Name
CCDS Name
Gene GO
JAK-STAT cascade; viral process; negative regulation of transcription
DNA-templated; cytoplasm; positive regulation of protein sumoylation; negative regulation of NF-kappaB transcription factor activity; ubiquitin protein ligase binding; zinc ion binding; transcription corepressor activity; DNA binding; protein binding; Wnt signaling pathway; PML body; nucleus; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; nuclear matrix; negative regulation of transcription from RNA polymerase II promoter; nucleic acid binding; positive regulation of keratinocyte apoptotic process; SUMO ligase activity; protein sumoylation; multicellular organismal development; transcription
DNA-templated
Homolog in other species PIAS4
Immgen Expression
MEDIAN
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004934
Chromosome 10
Coordinate 81,164,070     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgt/Agt
Var Base T
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.59
T:V0.40
Amino Acid Position 50
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02670
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.15
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved