|Institutional Source||Beutler Lab|
|Gene Name||5-methyltetrahydrofolate-homocysteine methyltransferase|
|Synonyms||methionine synthase, D830038K18Rik, MS|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7046 (G1)|
|Chromosomal Location||12182712-12258113 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 12190209 bp|
|Amino Acid Change||Alanine to Serine at position 1122 (A1122S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097442 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099856]|
|Predicted Effect||possibly damaging
AA Change: A1122S
PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: A1122S
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtr||
(F):5'- AGCAATGAAGGTTTCTCTTTGCTC -3'
(R):5'- GATTTTCAGGCTGAGAAGGACTC -3'
(F):5'- TTTGCTCAAAAGATGACACATGAGCG -3'
(R):5'- TTCTAGTACAGACCCCTACCACTG -3'