Smg1 - SNV Details



 Gene Information 
Gene Name Smg1
Old Gene Names for Smg1 C130002k18rik , 2610207i05rik , 5430435m13rik
Gene Description SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]
Uniprot Name
CCDS Name
Gene GO
protein autophosphorylation; cytoplasm; kinase activity; metal ion binding; DNA repair; nuclear-transcribed mRNA catabolic process
nonsense-mediated decay; phosphatidylinositol phosphorylation; transferase activity
transferring phosphorus-containing groups; phosphorylation; protein binding; peptidyl-serine phosphorylation; binding; nucleus; phosphotransferase activity
alcohol group as acceptor; ATP binding; protein serine/threonine kinase activity
Homolog in other species SMG1
Omim http://omim.org/entry/607032
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030655
Chromosome 7
Coordinate 118,203,059     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.39
C:V0.61
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL03128
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.81
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved