Incidental Mutation 'IGL02657:Me3'
ID 302374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Me3
Ensembl Gene ENSMUSG00000030621
Gene Name malic enzyme 3, NADP(+)-dependent, mitochondrial
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 7
Chromosomal Location 89632392-89854359 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89846253 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 357 (I357M)
Ref Sequence ENSEMBL: ENSMUSP00000032856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032856]
AlphaFold Q8BMF3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032853
SMART Domains Protein: ENSMUSP00000032853
Gene: ENSMUSG00000030621

DomainStartEndE-ValueType
Pfam:malic 1 26 7.5e-7 PFAM
Malic_M 36 288 5.68e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032856
AA Change: I357M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: I357M

DomainStartEndE-ValueType
malic 114 295 4.77e-105 SMART
Malic_M 305 557 5.68e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159167
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably damaging Het
Other mutations in Me3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Me3 APN 7 89849636 missense probably damaging 0.99
IGL01965:Me3 APN 7 89851743 missense probably benign 0.03
R0035:Me3 UTSW 7 89851759 missense probably benign 0.01
R0144:Me3 UTSW 7 89739872 missense probably damaging 0.98
R0206:Me3 UTSW 7 89849660 missense probably benign
R0206:Me3 UTSW 7 89849660 missense probably benign
R0360:Me3 UTSW 7 89786414 splice site probably null
R1501:Me3 UTSW 7 89633065 missense probably benign 0.01
R1579:Me3 UTSW 7 89845842 missense possibly damaging 0.53
R1613:Me3 UTSW 7 89786420 splice site probably benign
R1741:Me3 UTSW 7 89851833 missense probably damaging 1.00
R1757:Me3 UTSW 7 89633022 missense probably benign
R2177:Me3 UTSW 7 89633070 missense probably benign 0.16
R2202:Me3 UTSW 7 89850381 missense probably damaging 0.98
R3841:Me3 UTSW 7 89786493 missense possibly damaging 0.73
R3928:Me3 UTSW 7 89833690 splice site probably benign
R4183:Me3 UTSW 7 89851830 missense probably benign 0.19
R4274:Me3 UTSW 7 89806726 missense probably damaging 0.98
R4476:Me3 UTSW 7 89739860 missense probably damaging 1.00
R4532:Me3 UTSW 7 89632900 start gained probably benign
R4560:Me3 UTSW 7 89849730 missense probably benign 0.32
R4947:Me3 UTSW 7 89633014 missense probably benign
R5511:Me3 UTSW 7 89806668 missense probably damaging 1.00
R5622:Me3 UTSW 7 89796663 missense probably damaging 1.00
R5878:Me3 UTSW 7 89848006 missense probably benign 0.01
R6139:Me3 UTSW 7 89632900 start gained probably benign
R6265:Me3 UTSW 7 89849743 missense probably benign 0.00
R6923:Me3 UTSW 7 89845885 missense probably damaging 1.00
R7419:Me3 UTSW 7 89736719 missense probably damaging 1.00
R7516:Me3 UTSW 7 89847975 nonsense probably null
R8390:Me3 UTSW 7 89849595 missense probably damaging 1.00
R8434:Me3 UTSW 7 89739878 missense probably damaging 1.00
R8859:Me3 UTSW 7 89806668 missense probably damaging 1.00
R9801:Me3 UTSW 7 89786449 missense probably damaging 1.00
Posted On 2015-04-16