|Institutional Source||Beutler Lab|
|Gene Name||smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7311 (G1)|
|Chromosomal Location||24399619-24422778 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 24420633 bp|
|Amino Acid Change||Methionine to Lysine at position 387 (M387K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002280 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002280]|
|Predicted Effect||probably benign
AA Change: M387K
PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: M387K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele exhibit edema, hemorrhage, exencephaly, preaxial polydactyly, reduced size and growth, decreased mid- and hindrain size, microphthalmia, thin myocardium and atrioventricular septal defect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smg9||
(F):5'- TCTTGATCACACAGCTGTCC -3'
(R):5'- ACTGTAGCATGGACAGCGTC -3'
(F):5'- GATCACACAGCTGTCCTCATC -3'
(R):5'- GTCCCTGGAAAGCAGACACTTC -3'