Perp - SNV Details



 Gene Information 
Gene Name Perp
Old Gene Names for Perp 1110017a08rik
Gene Description PERP, TP53 apoptosis effector [Source:MGI Symbol;Acc:MGI:1929938]
MGI phenotype Homozygous inactivation of this locus results in increased lethality during the postnatal period.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; membrane; apoptotic process; cytoplasm; cell adhesion; induction of apoptosis; integral to plasma membrane; cell junction; nucleus; desmosome; plasma membrane; Golgi apparatus
Homolog in other species PERP
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019851
Chromosome 10
Coordinate 18,855,659     (Assembly: GRCm38)    
Ref Base A
Codon Change cAg/cGg
Var Base G
Zygosity Heterozygous
Read Depth 47
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Position 122
Amino Acid Change Q->R (Glutamine -> Arginine)
Sample ID IGL01595
Median Base Quality 40
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000019998:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
PMP-22/EMP/MP20/Claudin superfamily PMP22/EMP/MP20/Claudin IPR004031 ENSMUSP00000019998 Pfam 25
163 Description available Search pathways

 Availability Details 
Availability Cryopreserved