|Institutional Source||Beutler Lab|
|Gene Name||glycine N-methyltransferase|
|Synonyms||glycine N methyl transferase|
|Is this an essential gene?||Possibly non essential (E-score: 0.400)|
|Stock #||R7825 (G1)|
|Chromosomal Location||46725664-46729168 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 46729093 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 20 (D20G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002846 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: D20G
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D20G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display elevated levels of methionine and S-adenosylmethionine in the liver. Mice homozygous for another null allele exhibit hepatitis, increased hepatic glycogen storage, and hepatocellular carcinoma. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnmt||
(F):5'- ACTACCCTGATGAGCAAGGG -3'
(R):5'- TCCAGGATTGCTGTGCTGAG -3'
(F):5'- AGGGCTCTTGACCCCCTAGTAC -3'
(R):5'- GATTGCTGTGCTGAGCCATCC -3'