|Institutional Source||Beutler Lab|
|Gene Name||5-methyltetrahydrofolate-homocysteine methyltransferase reductase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8168 (G1)|
|Chromosomal Location||68560780-68582149 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 68572613 bp|
|Amino Acid Change||Valine to Isoleucine at position 288 (V288I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039810 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045827]|
|Predicted Effect||probably benign
AA Change: V288I
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: V288I
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
FUNCTION: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtrr||
(F):5'- CTGCACTCAAGAGGAACGAG -3'
(R):5'- CTGGATAGTTGTAAGCCTAGGG -3'
(F):5'- CACTCAAGAGGAACGAGGCGAG -3'
(R):5'- GTCTCAGCAACTTCTTAATGTGG -3'