|Institutional Source||Beutler Lab|
|Gene Name||SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)|
|Synonyms||2610207I05Rik, 5430435M13Rik, C130002K18Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0423 (G1)|
|Chromosomal Location||118131308-118243670 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 118176880 bp|
|Amino Acid Change||Arginine to Glycine at position 1396 (R1396G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032891 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032891]|
|Predicted Effect||possibly damaging
AA Change: R1396G
PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: R1396G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1|
|Coding Region Coverage||
|Validation Efficiency||99% (84/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smg1||
(F):5'- tgggtACACAGAGGAAGATGGGAGA -3'
(R):5'- GCTTCAACCAAAGAGAGAACCTTTGC -3'
(F):5'- catgtgcctttcatcgcag -3'
(R):5'- aaccctaccctcatttactctattc -3'