Casp8ap2 - SNV Details



 Gene Information 
Gene Name Casp8ap2
Old Gene Names for Casp8ap2 Aa387232 , D4ertd659e
Gene Description caspase 8 associated protein 2 [Source:MGI Symbol;Acc:MGI:1349399]
Uniprot Name
CCDS Name
Gene GO
activation of caspase activity
apoptotic protease activator activity
caspase activator activity
cytoplasm
identical protein binding
induction of apoptosis via death domain receptors
nucleus
protein binding
transcription corepressor activity
Homolog in other species CASP8AP2
Omim http://omim.org/entry/606880
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028282
Chromosome 4
Coordinate 32,649,192     (Assembly: GRCm38)    
Ref Base A
Codon Change cAg/cGg
Var Base G
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:0.49
G:0.51
Amino Acid Position 1951
Amino Acid Change Q->R (Glutamine -> Arginine)
Sample ID IGL00714
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 11 Other Mutations

 Predictions 
Polyphen Score 0.72
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000136016:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Homeodomain-like Homeodomain-like IPR009057 ENSMUSP00000136016 Superfamily 1899
1958 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved