Incidental Mutation 'R4476:Me3'
ID 330562
Institutional Source Beutler Lab
Gene Symbol Me3
Ensembl Gene ENSMUSG00000030621
Gene Name malic enzyme 3, NADP(+)-dependent, mitochondrial
Synonyms 1700020C08Rik, B230207H15Rik
MMRRC Submission 041733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4476 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89281492-89503423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89389068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 124 (V124E)
Ref Sequence ENSEMBL: ENSMUSP00000032856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032856]
AlphaFold Q8BMF3
Predicted Effect probably damaging
Transcript: ENSMUST00000032856
AA Change: V124E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: V124E

DomainStartEndE-ValueType
malic 114 295 4.77e-105 SMART
Malic_M 305 557 5.68e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159167
Predicted Effect unknown
Transcript: ENSMUST00000159491
AA Change: V28E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160995
Meta Mutation Damage Score 0.7345 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (41/42)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,882,787 (GRCm39) R275G probably damaging Het
Actc1 T C 2: 113,879,707 (GRCm39) T251A probably benign Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Arsb C T 13: 93,944,103 (GRCm39) R265C probably damaging Het
Cntn6 A G 6: 104,749,522 (GRCm39) E319G probably damaging Het
Cracr2a T A 6: 127,606,782 (GRCm39) N275K probably benign Het
Crispld1 G T 1: 17,817,734 (GRCm39) W212C probably damaging Het
Exosc10 G A 4: 148,649,781 (GRCm39) D404N probably damaging Het
Gfpt2 T C 11: 49,715,169 (GRCm39) V388A probably benign Het
Gm14401 C T 2: 176,778,570 (GRCm39) R219* probably null Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itgb1bp1 T C 12: 21,320,957 (GRCm39) E178G probably benign Het
Kidins220 C T 12: 25,061,000 (GRCm39) S826L probably damaging Het
Krt90 T C 15: 101,465,718 (GRCm39) D301G probably damaging Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Neto1 A T 18: 86,422,798 (GRCm39) D85V probably damaging Het
Or12k8 G A 2: 36,975,073 (GRCm39) S229L probably damaging Het
Or13a24 T C 7: 140,154,842 (GRCm39) Y259H probably damaging Het
Or4g7 T A 2: 111,310,009 (GRCm39) D293E possibly damaging Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Pkd1 A G 17: 24,795,500 (GRCm39) E2331G probably damaging Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Rab23 A G 1: 33,763,973 (GRCm39) probably benign Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Sox18 T C 2: 181,312,669 (GRCm39) K154R probably damaging Het
Tanc1 A G 2: 59,672,340 (GRCm39) probably null Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Zfp667 A G 7: 6,307,598 (GRCm39) K89E possibly damaging Het
Other mutations in Me3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Me3 APN 7 89,498,844 (GRCm39) missense probably damaging 0.99
IGL01965:Me3 APN 7 89,500,951 (GRCm39) missense probably benign 0.03
IGL02657:Me3 APN 7 89,495,461 (GRCm39) missense probably benign 0.01
R0035:Me3 UTSW 7 89,500,967 (GRCm39) missense probably benign 0.01
R0144:Me3 UTSW 7 89,389,080 (GRCm39) missense probably damaging 0.98
R0206:Me3 UTSW 7 89,498,868 (GRCm39) missense probably benign
R0206:Me3 UTSW 7 89,498,868 (GRCm39) missense probably benign
R0360:Me3 UTSW 7 89,435,622 (GRCm39) splice site probably null
R1501:Me3 UTSW 7 89,282,273 (GRCm39) missense probably benign 0.01
R1579:Me3 UTSW 7 89,495,050 (GRCm39) missense possibly damaging 0.53
R1613:Me3 UTSW 7 89,435,628 (GRCm39) splice site probably benign
R1741:Me3 UTSW 7 89,501,041 (GRCm39) missense probably damaging 1.00
R1757:Me3 UTSW 7 89,282,230 (GRCm39) missense probably benign
R2177:Me3 UTSW 7 89,282,278 (GRCm39) missense probably benign 0.16
R2202:Me3 UTSW 7 89,499,589 (GRCm39) missense probably damaging 0.98
R3841:Me3 UTSW 7 89,435,701 (GRCm39) missense possibly damaging 0.73
R3928:Me3 UTSW 7 89,482,898 (GRCm39) splice site probably benign
R4183:Me3 UTSW 7 89,501,038 (GRCm39) missense probably benign 0.19
R4274:Me3 UTSW 7 89,455,934 (GRCm39) missense probably damaging 0.98
R4532:Me3 UTSW 7 89,282,108 (GRCm39) start gained probably benign
R4560:Me3 UTSW 7 89,498,938 (GRCm39) missense probably benign 0.32
R4947:Me3 UTSW 7 89,282,222 (GRCm39) missense probably benign
R5511:Me3 UTSW 7 89,455,876 (GRCm39) missense probably damaging 1.00
R5622:Me3 UTSW 7 89,445,871 (GRCm39) missense probably damaging 1.00
R5878:Me3 UTSW 7 89,497,214 (GRCm39) missense probably benign 0.01
R6139:Me3 UTSW 7 89,282,108 (GRCm39) start gained probably benign
R6265:Me3 UTSW 7 89,498,951 (GRCm39) missense probably benign 0.00
R6923:Me3 UTSW 7 89,495,093 (GRCm39) missense probably damaging 1.00
R7419:Me3 UTSW 7 89,385,927 (GRCm39) missense probably damaging 1.00
R7516:Me3 UTSW 7 89,497,183 (GRCm39) nonsense probably null
R8390:Me3 UTSW 7 89,498,803 (GRCm39) missense probably damaging 1.00
R8434:Me3 UTSW 7 89,389,086 (GRCm39) missense probably damaging 1.00
R8859:Me3 UTSW 7 89,455,876 (GRCm39) missense probably damaging 1.00
R9801:Me3 UTSW 7 89,435,657 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGAGTTGATGGCTACCCC -3'
(R):5'- GGCTGTTGACTCTAAGGTAGCC -3'

Sequencing Primer
(F):5'- CTGAATGTAAATCTTCCCTGGAGC -3'
(R):5'- CTCTAAGGTAGCCTCTAAAGGTGC -3'
Posted On 2015-07-21