Incidental Mutation 'IGL02358:Me2'
ID290367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Me2
Ensembl Gene ENSMUSG00000024556
Gene Namemalic enzyme 2, NAD(+)-dependent, mitochondrial
SynonymsD030040L20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL02358
Quality Score
Status
Chromosome18
Chromosomal Location73770040-73815392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73797967 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 85 (I85K)
Ref Sequence ENSEMBL: ENSMUSP00000025439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025439]
Predicted Effect probably benign
Transcript: ENSMUST00000025439
AA Change: I85K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: I85K

DomainStartEndE-ValueType
malic 89 270 3.48e-98 SMART
Malic_M 280 535 2.21e-103 SMART
Coding Region Coverage
Validation Efficiency
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
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Adgre4 G A 17: 55,843,209 R600Q probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Krtap9-3 T A 11: 99,598,059 probably benign Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Spata31 T A 13: 64,921,218 N393K probably benign Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zc3hc1 C A 6: 30,376,058 G168W probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Me2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Me2 APN 18 73770642 missense probably benign 0.01
IGL00977:Me2 APN 18 73791177 missense probably benign 0.24
IGL01161:Me2 APN 18 73770816 splice site probably benign
IGL02351:Me2 APN 18 73797967 missense probably benign 0.20
IGL02647:Me2 APN 18 73797903 missense probably benign 0.00
IGL03172:Me2 APN 18 73770726 missense probably benign
baako UTSW 18 73797945 missense probably damaging 1.00
first_born UTSW 18 73791128 nonsense probably null
muster UTSW 18 73791844 missense probably benign 0.01
Roundup UTSW 18 73770673 missense probably benign
R0018:Me2 UTSW 18 73791852 missense possibly damaging 0.93
R0018:Me2 UTSW 18 73791852 missense possibly damaging 0.93
R0032:Me2 UTSW 18 73794525 missense probably benign
R0119:Me2 UTSW 18 73770673 missense probably benign
R0136:Me2 UTSW 18 73770673 missense probably benign
R0299:Me2 UTSW 18 73770673 missense probably benign
R0657:Me2 UTSW 18 73770673 missense probably benign
R1597:Me2 UTSW 18 73797945 missense probably damaging 1.00
R1638:Me2 UTSW 18 73773134 missense probably benign 0.03
R1765:Me2 UTSW 18 73791858 missense probably damaging 1.00
R1861:Me2 UTSW 18 73785714 missense probably benign 0.11
R2410:Me2 UTSW 18 73791112 missense probably damaging 0.98
R3422:Me2 UTSW 18 73791194 missense probably damaging 0.99
R3954:Me2 UTSW 18 73781132 missense probably damaging 1.00
R3957:Me2 UTSW 18 73781132 missense probably damaging 1.00
R4052:Me2 UTSW 18 73791085 missense probably benign 0.05
R4207:Me2 UTSW 18 73791085 missense probably benign 0.05
R4208:Me2 UTSW 18 73791085 missense probably benign 0.05
R4694:Me2 UTSW 18 73801859 missense probably benign 0.01
R4962:Me2 UTSW 18 73785776 missense probably damaging 1.00
R5527:Me2 UTSW 18 73791116 missense probably damaging 1.00
R6170:Me2 UTSW 18 73785781 missense probably benign 0.07
R6185:Me2 UTSW 18 73791128 nonsense probably null
R6305:Me2 UTSW 18 73791844 missense probably benign 0.01
R6462:Me2 UTSW 18 73775399 missense probably benign 0.17
R7085:Me2 UTSW 18 73781058 missense probably damaging 1.00
R7096:Me2 UTSW 18 73794890 missense probably benign 0.05
Posted On2015-04-16