Incidental Mutation 'R6265:Me3'
ID506948
Institutional Source Beutler Lab
Gene Symbol Me3
Ensembl Gene ENSMUSG00000030621
Gene Namemalic enzyme 3, NADP(+)-dependent, mitochondrial
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6265 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location89632392-89854359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89849743 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 510 (D510E)
Ref Sequence ENSEMBL: ENSMUSP00000032856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032856]
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: D510E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: D510E

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,454,675 P47L probably damaging Het
Acot1 T C 12: 84,016,913 I265T probably benign Het
Amotl1 T C 9: 14,571,655 D587G possibly damaging Het
Anks1b T G 10: 90,941,500 D1117E probably damaging Het
Art4 T G 6: 136,854,888 N85T probably damaging Het
Asb3 C A 11: 31,085,143 Q462K probably benign Het
Atcay C T 10: 81,213,280 E163K possibly damaging Het
Atp6v0e T C 17: 26,676,533 V20A possibly damaging Het
Atp7b G A 8: 22,015,927 Q520* probably null Het
Baat A T 4: 49,502,836 D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,529,599 probably null Het
Ccdc24 G A 4: 117,871,177 Q47* probably null Het
Cep170b C A 12: 112,744,559 Q1488K probably damaging Het
Cldn24 A C 8: 47,822,339 D66A probably benign Het
Cln5 C A 14: 103,073,227 T110K probably damaging Het
Clvs2 C A 10: 33,528,515 S235I possibly damaging Het
Col5a3 C T 9: 20,793,764 G730R unknown Het
Crim1 C T 17: 78,370,085 P905L probably benign Het
Cxxc4 T C 3: 134,258,063 V356A probably benign Het
Dctn6 G T 8: 34,094,903 N93K probably damaging Het
Dnah9 G A 11: 66,168,094 A125V probably benign Het
Dnhd1 T C 7: 105,693,370 I1307T probably benign Het
Dpy19l1 T A 9: 24,432,371 I493F possibly damaging Het
Ebf2 A G 14: 67,424,060 I546V probably benign Het
Fbll1 T C 11: 35,797,809 E209G probably damaging Het
Foxj2 G A 6: 122,828,174 A2T probably damaging Het
Foxs1 A T 2: 152,932,178 C318* probably null Het
Gorab T C 1: 163,386,630 T244A possibly damaging Het
Gtsf1l C A 2: 163,087,663 probably benign Het
Herc1 T C 9: 66,372,016 S69P probably benign Het
Hpca C T 4: 129,118,652 W30* probably null Het
Ing3 C A 6: 21,953,814 Q85K probably damaging Het
Klhdc8b T C 9: 108,448,425 E264G probably damaging Het
Lair1 T A 7: 4,055,827 probably benign Het
Lama1 T C 17: 67,750,655 Y575H probably damaging Het
Lamtor2 C A 3: 88,550,713 G29* probably null Het
Loxhd1 A T 18: 77,361,730 D341V probably damaging Het
Lrp2 T A 2: 69,466,340 D3290V probably damaging Het
Matn2 A T 15: 34,399,155 D396V probably damaging Het
Melk A G 4: 44,318,109 Y170C probably damaging Het
Mgat2 T C 12: 69,184,793 V47A probably benign Het
Mindy4 T C 6: 55,301,064 I631T probably damaging Het
Myo5b T A 18: 74,577,440 probably null Het
Myo7b A T 18: 31,998,150 D521E probably damaging Het
Nlrp9b T A 7: 20,062,683 F986I probably benign Het
Olfr1089 A G 2: 86,732,955 L219P probably damaging Het
Patj A G 4: 98,469,567 D690G probably benign Het
Pias2 T C 18: 77,097,258 S5P probably damaging Het
Reep4 A T 14: 70,547,703 S150C probably damaging Het
Slc25a21 T C 12: 57,196,900 R14G probably benign Het
Slc6a6 G C 6: 91,754,915 R575T probably damaging Het
Speg T A 1: 75,406,679 Y886* probably null Het
Tas2r103 A C 6: 133,036,531 F191V probably damaging Het
Tbc1d19 A G 5: 53,837,924 D145G probably benign Het
Tex47 T A 5: 7,305,461 I214N probably damaging Het
Tnnt3 A T 7: 142,501,645 D3V probably damaging Het
Trdv2-1 T G 14: 53,946,385 S24A probably benign Het
Ubr4 A G 4: 139,452,640 D3377G possibly damaging Het
Ugt3a2 A T 15: 9,361,579 D147V probably damaging Het
Usp9y A T Y: 1,446,843 D103E probably benign Homo
Vmn1r168 A G 7: 23,541,536 I273V probably benign Het
Vmn2r61 T C 7: 42,266,491 I176T probably benign Het
Vmn2r8 T A 5: 108,808,597 D53V probably benign Het
Zbtb8os A T 4: 129,335,982 probably benign Het
Zfp551 C T 7: 12,415,412 R690Q 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
IGL02657:Me3 APN 7 89846253 missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- AAGCGGACCCCATATTTAAGAGAC -3'
(R):5'- TCTCTAATGCCAGTGTTGGG -3'

Sequencing Primer
(F):5'- ATGACTACTCCAAACCTGTCTCCATG -3'
(R):5'- GGGGGCAGTGAGTGGGC -3'
Posted On2018-03-15