Incidental Mutation 'IGL01413:Mdh2'
ID 278444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdh2
Ensembl Gene ENSMUSG00000019179
Gene Name malate dehydrogenase 2, NAD (mitochondrial)
Synonyms Mor-1, Mor1, Mdh-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01413
Quality Score
Status
Chromosome 5
Chromosomal Location 135807503-135819240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135814879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 116 (I116N)
Ref Sequence ENSEMBL: ENSMUSP00000142993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019323] [ENSMUST00000138101] [ENSMUST00000196285] [ENSMUST00000200556]
AlphaFold P08249
Predicted Effect probably damaging
Transcript: ENSMUST00000019323
AA Change: I139N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019323
Gene: ENSMUSG00000019179
AA Change: I139N

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Ldh_1_N 25 168 7.2e-50 PFAM
Pfam:Ldh_1_C 170 334 4.9e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130795
Predicted Effect probably benign
Transcript: ENSMUST00000138101
SMART Domains Protein: ENSMUSP00000136225
Gene: ENSMUSG00000019179

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143747
Predicted Effect possibly damaging
Transcript: ENSMUST00000196285
AA Change: I111N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143748
Gene: ENSMUSG00000019179
AA Change: I111N

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Ldh_1_N 25 79 9.5e-14 PFAM
Pfam:Ldh_1_N 74 140 8.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200556
AA Change: I116N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142993
Gene: ENSMUSG00000019179
AA Change: I116N

DomainStartEndE-ValueType
Pfam:Ldh_1_N 9 145 1.7e-39 PFAM
Pfam:Ldh_1_C 147 198 3.8e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 A T 18: 74,939,015 (GRCm39) probably benign Het
Adgrl1 T A 8: 84,656,486 (GRCm39) I268N probably damaging Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ass1 A G 2: 31,366,934 (GRCm39) Y11C probably damaging Het
Cd44 T C 2: 102,644,632 (GRCm39) E448G probably damaging Het
Cdca2 A G 14: 67,915,343 (GRCm39) S639P probably damaging Het
Cfap221 T A 1: 119,912,801 (GRCm39) H91L possibly damaging Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Col4a4 C T 1: 82,448,969 (GRCm39) G1207E unknown Het
Cracdl G A 1: 37,651,387 (GRCm39) A1160V possibly damaging Het
Cthrc1 T A 15: 38,943,894 (GRCm39) L58Q possibly damaging Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dlgap1 C A 17: 70,823,069 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,323,790 (GRCm39) L3707F probably damaging Het
Dnai7 A T 6: 145,120,812 (GRCm39) M669K probably damaging Het
Duox1 A G 2: 122,151,191 (GRCm39) N289D probably benign Het
Fbrsl1 T A 5: 110,526,114 (GRCm39) E443D probably damaging Het
Fgfr1 T A 8: 26,052,239 (GRCm39) C288* probably null Het
Gabbr1 A G 17: 37,373,598 (GRCm39) N498S possibly damaging Het
Gja10 T C 4: 32,602,070 (GRCm39) K105E probably damaging Het
Glra4 C T X: 135,663,493 (GRCm39) R352H probably benign Het
Gm19402 G T 10: 77,526,323 (GRCm39) probably benign Het
Hadha T A 5: 30,346,025 (GRCm39) M200L probably benign Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Huwe1 A T X: 150,665,676 (GRCm39) Q1231L possibly damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Il1rl1 A T 1: 40,485,329 (GRCm39) K260N possibly damaging Het
Lhx6 C A 2: 35,993,528 (GRCm39) A57S probably benign Het
Met T C 6: 17,558,895 (GRCm39) probably benign Het
Mgam A G 6: 40,638,211 (GRCm39) D387G probably damaging Het
Myo3a T C 2: 22,302,411 (GRCm39) S287P probably benign Het
Nol8 T G 13: 49,813,428 (GRCm39) N140K possibly damaging Het
Nrap C A 19: 56,377,823 (GRCm39) A56S probably damaging Het
Nuggc A G 14: 65,876,030 (GRCm39) T548A probably benign Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Or2i1 A T 17: 37,508,554 (GRCm39) F102I possibly damaging Het
Pcdh11x A G X: 119,309,282 (GRCm39) T242A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Pdzph1 T C 17: 59,186,147 (GRCm39) I1215V possibly damaging Het
Plekha8 C T 6: 54,599,261 (GRCm39) T265I probably benign Het
Pou4f2 T A 8: 79,161,734 (GRCm39) I290F probably damaging Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rab28 A T 5: 41,855,790 (GRCm39) D68E probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Samd4 A G 14: 47,254,249 (GRCm39) T137A probably benign Het
Serpinb1b T G 13: 33,277,842 (GRCm39) D358E probably damaging Het
Serpinb9c G A 13: 33,335,787 (GRCm39) L222F probably damaging Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Spef2 T A 15: 9,676,376 (GRCm39) I732L probably benign Het
Srrm2 T C 17: 24,034,999 (GRCm39) probably benign Het
Ssxb13 A G X: 8,615,692 (GRCm39) E75G probably benign Het
Stmnd1 A T 13: 46,453,157 (GRCm39) I278L probably benign Het
Strap C A 6: 137,722,502 (GRCm39) probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tcf4 A C 18: 69,788,090 (GRCm39) E160D probably damaging Het
Themis3 A G 17: 66,863,092 (GRCm39) Y289H probably benign Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trappc10 A G 10: 78,033,678 (GRCm39) V963A possibly damaging Het
Trav19 G T 14: 54,083,072 (GRCm39) C49F probably damaging Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Usp9x A G X: 13,017,579 (GRCm39) S1696G probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Vmn1r185 A T 7: 26,311,046 (GRCm39) V153E probably damaging Het
Vmn2r124 A G 17: 18,282,827 (GRCm39) T174A probably benign Het
Wdr59 T A 8: 112,227,706 (GRCm39) S124C probably benign Het
Xirp2 A T 2: 67,340,270 (GRCm39) D837V probably damaging Het
Zfp185 A G X: 72,061,997 (GRCm39) D403G possibly damaging Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Other mutations in Mdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Mdh2 APN 5 135,815,138 (GRCm39) missense probably damaging 1.00
IGL01418:Mdh2 APN 5 135,814,879 (GRCm39) missense probably damaging 0.99
IGL03290:Mdh2 APN 5 135,818,567 (GRCm39) missense probably damaging 1.00
R0396:Mdh2 UTSW 5 135,818,533 (GRCm39) missense probably benign
R0492:Mdh2 UTSW 5 135,819,004 (GRCm39) missense possibly damaging 0.54
R4977:Mdh2 UTSW 5 135,812,263 (GRCm39) missense probably damaging 1.00
R5162:Mdh2 UTSW 5 135,812,329 (GRCm39) critical splice donor site probably null
R5839:Mdh2 UTSW 5 135,812,146 (GRCm39) splice site probably null
R6821:Mdh2 UTSW 5 135,818,525 (GRCm39) missense possibly damaging 0.49
R8690:Mdh2 UTSW 5 135,814,882 (GRCm39) missense probably benign 0.39
R8734:Mdh2 UTSW 5 135,812,983 (GRCm39) intron probably benign
R8973:Mdh2 UTSW 5 135,819,019 (GRCm39) missense possibly damaging 0.71
Z1176:Mdh2 UTSW 5 135,818,483 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16