|Institutional Source||Beutler Lab|
|Gene Name||malate dehydrogenase 1, NAD (soluble)|
|Synonyms||Mor2, MDH-s, Mor-2, B230377B03Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||PIT4480001 (G1)|
|Chromosomal Location||21556787-21572367 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 21558538 bp|
|Amino Acid Change||Serine to Leucine at position 268 (S268L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102874] [ENSMUST00000125302]|
|Predicted Effect||probably damaging
AA Change: S268L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S268L
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. A pseudogene has been identified on chromosomes 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: An ENU-induced mutation results in prenatal lethality in homozygotes and decreased enzyme activity in heterozygotes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mdh1||
(F):5'- CTTGCTTTCCAGAACAGTTTCAG -3'
(R):5'- CTGGAAGTGTAGATGAAGTGATATCTG -3'
(F):5'- GCTTTCCAGAACAGTTTCAGTATTG -3'
(R):5'- AAGTGATATCTGTGACCCAGTG -3'