Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Me3'

431229

Institutional Source

Beutler Lab

Gene Symbol

Me3

Ensembl Gene

ENSMUSG00000030621

Gene Name

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

Synonyms

1700020C08Rik, B230207H15Rik

MMRRC Submission

043072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5511 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

89281492-89503423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89455876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 243 (Y243D)

Ref Sequence

ENSEMBL: ENSMUSP00000032856 (fasta)

Gene Model

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

AlphaFold

Q8BMF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032856
AA Change: Y243D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: Y243D

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

0.9738

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	probably damaging	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
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'- AGGAATCCTCCCTCAGACAG -3'
(R):5'- AGCATTCATTGACAGCCTCTTTTG -3'

Sequencing Primer
(F):5'- CAGACTCTTCCAGGGATTACC -3'
(R):5'- GTAATTCTTCCAAAGCCAAAGGG -3'

Posted On

2016-10-05