Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Me3'

441632

Institutional Source

Beutler Lab

Gene Symbol

Me3

Ensembl Gene

ENSMUSG00000030621

Gene Name

malic enzyme 3, NADP(+)-dependent, mitochondrial

Synonyms

1700020C08Rik, B230207H15Rik

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89281492-89503423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89445871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 196 (D196G)

Ref Sequence

ENSEMBL: ENSMUSP00000032856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032856]

AlphaFold

Q8BMF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032856
AA Change: D196G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: D196G

Domain	Start	End	E-Value	Type
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

0.9537

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apcdd1	A	G	18: 63,069,973 (GRCm39)		probably null	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
Ebf2	T	C	14: 67,628,007 (GRCm39)	I334T	possibly damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Krt5	T	C	15: 101,617,470 (GRCm39)	D421G	probably damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Padi1	C	A	4: 140,552,266 (GRCm39)	V393L	probably damaging	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	probably benign	Het

Other mutations in Me3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4476:Me3	UTSW	7	89,389,068 (GRCm39)	missense	probably damaging	1.00
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
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'- GATGAATCCTCTGGCCTTGTCC -3'
(R):5'- CGAAATCAACAGCCCATGTG -3'

Sequencing Primer
(F):5'- CCAGACAAGCTGTTTTATTCCCAAC -3'
(R):5'- AATTATTTTACCAGTGTGCCATCC -3'

Posted On

2016-11-08