Incidental Mutation 'IGL02171:Mdh1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdh1
Ensembl Gene ENSMUSG00000020321
Gene Namemalate dehydrogenase 1, NAD (soluble)
SynonymsMor2, MDH-s, Mor-2, B230377B03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02171
Quality Score
Chromosomal Location21556787-21572367 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to C at 21557438 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102874]
Predicted Effect probably benign
Transcript: ENSMUST00000102874
SMART Domains Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321

Pfam:Ldh_1_N 5 153 7.3e-41 PFAM
Pfam:Ldh_1_C 156 331 1.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146146
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,944,256 I772M probably benign Het
Abcg4 C A 9: 44,275,009 probably benign Het
Abo A G 2: 26,848,957 I18T probably benign Het
AI661453 C T 17: 47,466,996 probably benign Het
Apbb1 A G 7: 105,559,126 probably benign Het
Atp8a1 G A 5: 67,738,465 S557L probably damaging Het
Bora G T 14: 99,047,322 D3Y probably damaging Het
Cfap46 T C 7: 139,667,056 D323G possibly damaging Het
Dcdc2a T A 13: 25,056,434 V55E probably damaging Het
Dync1i1 G T 6: 5,969,498 R441L probably damaging Het
Ecd T A 14: 20,320,827 Y608F probably damaging Het
Eif4g3 A G 4: 138,126,589 T489A probably benign Het
Erlin1 A G 19: 44,049,116 probably benign Het
Fras1 A G 5: 96,735,181 E2524G probably benign Het
Garem1 C T 18: 21,129,241 D839N probably damaging Het
Gdap1l1 T A 2: 163,447,550 V145E possibly damaging Het
Gm1966 G T 7: 106,601,341 noncoding transcript Het
Hydin A T 8: 110,451,958 K1062* probably null Het
Igkv4-92 T C 6: 68,755,589 D2G probably benign Het
Lemd3 T A 10: 120,933,622 probably benign Het
Mbl1 C T 14: 41,154,498 probably benign Het
Mms19 A G 19: 41,957,139 probably null Het
Nrxn3 C A 12: 89,193,163 P20T probably damaging Het
Nudt1 A G 5: 140,337,593 E100G probably damaging Het
Olfr1006 T A 2: 85,674,941 D70V probably damaging Het
Olfr1391 T A 11: 49,328,035 F208Y possibly damaging Het
Palb2 A C 7: 122,107,586 S1083A probably damaging Het
Phc2 T G 4: 128,711,065 F198C probably damaging Het
Pkhd1l1 A G 15: 44,516,146 D1056G possibly damaging Het
Psg17 A G 7: 18,818,787 Y188H probably damaging Het
Scn1a T A 2: 66,273,199 I1906F probably damaging Het
Sidt2 C A 9: 45,952,770 R150L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Supt3 T C 17: 45,003,156 I144T probably damaging Het
Trip4 A G 9: 65,881,050 S38P probably damaging Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdr72 A T 9: 74,210,534 M843L possibly damaging Het
Zfp595 T A 13: 67,316,655 N518Y possibly damaging Het
Other mutations in Mdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02273:Mdh1 APN 11 21559786 missense probably benign 0.38
IGL03198:Mdh1 APN 11 21564168 missense probably damaging 1.00
PIT4480001:Mdh1 UTSW 11 21558538 missense probably damaging 1.00
R0771:Mdh1 UTSW 11 21557550 missense probably benign 0.27
R1016:Mdh1 UTSW 11 21559769 missense probably benign 0.01
R3854:Mdh1 UTSW 11 21559281 missense probably benign 0.31
R3855:Mdh1 UTSW 11 21559281 missense probably benign 0.31
R3886:Mdh1 UTSW 11 21559832 missense probably damaging 0.97
R4474:Mdh1 UTSW 11 21566624 missense possibly damaging 0.49
R4507:Mdh1 UTSW 11 21558470 missense probably benign 0.01
R4724:Mdh1 UTSW 11 21562957 missense probably damaging 1.00
R4986:Mdh1 UTSW 11 21558545 missense possibly damaging 0.85
R5472:Mdh1 UTSW 11 21559786 missense probably benign 0.38
R7088:Mdh1 UTSW 11 21558484 missense probably damaging 1.00
X0063:Mdh1 UTSW 11 21562870 missense possibly damaging 0.92
Posted On2015-04-16