Smg5 - SNV Details



 Gene Information 
Gene Name Smg5
Old Gene Names for Smg5 Bc024683
Gene Description Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) [Source:MGI Symbol;Acc:MGI:2447364]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; nuclear-transcribed mRNA catabolic process
nonsense-mediated decay; regulation of dephosphorylation; protein binding; nucleus; protein phosphatase 2A binding
Homolog in other species SMG5
Omim http://omim.org/entry/610962
Immgen Expression
HIGH(LOWER IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000001415
Chromosome 3
Coordinate 88,352,998     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 76
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Position 632
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02215
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0.13
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved