|Institutional Source||Beutler Lab|
|Gene Name||malic enzyme 2, NAD(+)-dependent, mitochondrial|
|Is this an essential gene?||Possibly non essential (E-score: 0.266)|
|Stock #||R3954 (G1)|
|Chromosomal Location||73770040-73815392 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73781132 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 443 (F443L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025439 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025439]|
|Predicted Effect||probably damaging
AA Change: F443L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F443L
|Meta Mutation Damage Score||0.4|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Me2||
(F):5'- CTCCTAAAGAATTCCATGGACATGTTC -3'
(R):5'- TGCTAGGGTTTAAAGAGAGCCTC -3'
(F):5'- TGGGAATCGAACCAGGTTCTC -3'
(R):5'- GGGTTTAAAGAGAGCCTCATTTCAG -3'