Incidental Mutation 'IGL02273:Mdh1'
ID287227
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 #IGL02273
Quality Score
Status
Chromosome11
Chromosomal Location21556787-21572367 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21559786 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 196 (N196K)
Ref Sequence ENSEMBL: ENSMUSP00000099938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102874] [ENSMUST00000125302]
Predicted Effect probably benign
Transcript: ENSMUST00000102874
AA Change: N196K

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: N196K

DomainStartEndE-ValueType
Pfam:Ldh_1_N 5 153 7.3e-41 PFAM
Pfam:Ldh_1_C 156 331 1.2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125302
SMART Domains Protein: ENSMUSP00000119816
Gene: ENSMUSG00000020321

DomainStartEndE-ValueType
Pfam:Ldh_1_N 5 153 5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175427
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging Het
Other mutations in Mdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02171:Mdh1 APN 11 21557438 utr 3 prime probably benign
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