Incidental Mutation 'R1613:Me3'
ID176936
Institutional Source Beutler Lab
Gene Symbol Me3
Ensembl Gene ENSMUSG00000030621
Gene Namemalic enzyme 3, NADP(+)-dependent, mitochondrial
Synonyms
MMRRC Submission 039650-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1613 (G1)
Quality Score175
Status Validated
Chromosome7
Chromosomal Location89632392-89854359 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 89786420 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032856]
Predicted Effect probably benign
Transcript: ENSMUST00000032856
SMART Domains Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621

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 probably benign
Transcript: ENSMUST00000159491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160995
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 82% (69/84)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp G T 8: 105,566,835 T106K probably damaging Het
Aldh3a1 A T 11: 61,214,551 D161V probably damaging Het
Aloxe3 A G 11: 69,130,046 D199G possibly damaging Het
Amfr T A 8: 93,999,226 M176L probably benign Het
Amigo1 A T 3: 108,188,220 E345V probably benign Het
Atp13a3 T C 16: 30,332,300 Y1064C probably damaging Het
AU019823 T C 9: 50,607,805 K169R probably damaging Het
Brd7 A T 8: 88,346,950 C271S probably benign Het
Bub1b T A 2: 118,639,741 probably null Het
Ccdc146 T A 5: 21,294,524 I887F probably damaging Het
Ceacam14 T C 7: 17,814,048 probably benign Het
Cntn1 T A 15: 92,245,990 V278E possibly damaging Het
Col6a6 A C 9: 105,732,211 probably null Het
Cspp1 C T 1: 10,133,241 R1016C probably damaging Het
Cyp2c39 A G 19: 39,539,011 Y267C probably damaging Het
Cyp2c67 C T 19: 39,626,199 V295I probably benign Het
Cyp2d40 T C 15: 82,761,439 T122A unknown Het
Dmxl2 A G 9: 54,382,027 I2541T probably benign Het
Eif3e G A 15: 43,250,224 A438V possibly damaging Het
Fam178b C A 1: 36,600,192 W342L probably benign Het
Fam45a T A 19: 60,822,325 V171D possibly damaging Het
Fam78a G T 2: 32,069,569 N176K probably damaging Het
Ghrhr A T 6: 55,379,697 K93M probably damaging Het
Gm1527 T A 3: 28,898,853 probably null Het
Gm1553 G A 10: 82,492,596 probably benign Het
Gm5885 G A 6: 133,531,242 noncoding transcript Het
Gm8674 G A 13: 49,902,438 noncoding transcript Het
Hoxc6 C T 15: 103,009,585 probably benign Het
Ino80 T C 2: 119,392,867 T1189A probably damaging Het
Iqgap1 T C 7: 80,768,457 E55G probably damaging Het
Kcnh2 G A 5: 24,322,762 probably benign Het
Lama1 G A 17: 67,807,923 G2356S probably benign Het
Mdfic T A 6: 15,799,590 probably null Het
Mmadhc T C 2: 50,280,326 D258G probably damaging Het
Nfe2 T C 15: 103,249,129 D145G probably damaging Het
Olfr1039 A T 2: 86,131,063 L200Q probably damaging Het
Olfr1200 T C 2: 88,767,805 N170S probably damaging Het
Olfr1377 T A 11: 50,985,218 N172K probably damaging Het
Olfr1391 A G 11: 49,327,693 Y94C probably damaging Het
Olfr1404 C T 1: 173,215,867 T72I probably benign Het
Olfr352 A C 2: 36,870,393 I276L possibly damaging Het
Olfr728 A C 14: 50,140,294 L115R probably damaging Het
P4ha3 A T 7: 100,313,250 D405V possibly damaging Het
Palmd T C 3: 116,923,504 D448G probably damaging Het
Pclo T C 5: 14,679,132 probably benign Het
Pcsk6 A G 7: 65,910,311 probably benign Het
Pidd1 T C 7: 141,440,777 E469G probably damaging Het
Ptpn13 A G 5: 103,536,871 D875G possibly damaging Het
Rasgrf2 A G 13: 91,902,621 L886P probably damaging Het
Scrib G A 15: 76,048,542 R1454C probably damaging Het
Slc24a1 A G 9: 64,948,696 S310P unknown Het
Slc44a5 A G 3: 154,257,714 probably null Het
Snx4 T G 16: 33,286,046 M283R probably damaging Het
Snx7 A T 3: 117,829,573 probably benign Het
Stk19 A T 17: 34,824,598 L212H probably damaging Het
Sult2a4 T C 7: 13,989,495 K32E probably damaging Het
Tfrc T A 16: 32,623,375 Y473N probably damaging Het
Tlr2 C G 3: 83,837,353 L474F probably damaging Het
Tnfrsf4 T A 4: 156,016,162 F213I probably benign Het
Trim9 A T 12: 70,248,395 I651N probably damaging Het
Vmn1r84 T A 7: 12,362,533 I78L possibly damaging Het
Vmn2r77 T C 7: 86,811,148 Y561H probably damaging Het
Vmn2r95 A G 17: 18,440,639 probably benign Het
Zfp11 T C 5: 129,658,367 N10S probably benign Het
Zfp81 A T 17: 33,334,783 H352Q probably damaging Het
Zscan5b T A 7: 6,230,375 L66Q 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
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
Predicted Primers PCR Primer
(F):5'- GTTCCAGATGAGTAAGCCCTTGACC -3'
(R):5'- GTATCCTGTCTTCAGTGCCACAGTG -3'

Sequencing Primer
(F):5'- gtaagcccttgacccagtg -3'
(R):5'- CACAGTGGCACATTTCATAGG -3'
Posted On2014-04-24