Epg5 - SNV Details



 Gene Information 
Gene Name Epg5
Old Gene Names for Epg5 Aw456499 , 5430411k18rik , Ai661957
Gene Description ectopic P-granules autophagy protein 5 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1918673]
Uniprot Name
CCDS Name
Gene GO
cellular_component; autophagy; biological_process; molecular_function
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039840
Chromosome 18
Coordinate 78,019,274     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gCg
Var Base C
Zygosity Heterozygous
Read Depth 51
Allele Frequency
T:R0.59
C:V0.41
Amino Acid Position 1994
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01778
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved