Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Me2'

355594

Institutional Source

Beutler Lab

Gene Symbol

Me2

Ensembl Gene

ENSMUSG00000024556

Gene Name

malic enzyme 2, NAD(+)-dependent, mitochondrial

Synonyms

D030040L20Rik

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73902974-73948520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73934930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 38 (M38L)

Ref Sequence

ENSEMBL: ENSMUSP00000025439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025439]

AlphaFold

Q99KE1

Predicted Effect

probably benign
Transcript: ENSMUST00000025439
AA Change: M38L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: M38L

Domain	Start	End	E-Value	Type
malic	89	270	3.48e-98	SMART
Malic_M	280	535	2.21e-103	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,484,918 (GRCm39)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Lck	G	T	4: 129,442,765 (GRCm39)	N452K	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4b1d	T	A	2: 89,968,593 (GRCm39)	K297*	probably null	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prelp	A	G	1: 133,842,485 (GRCm39)	M220T	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,752,633 (GRCm39)	L548P	probably damaging	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	probably benign	Het

Other mutations in Me2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Me2	APN	18	73,903,713 (GRCm39)	missense	probably benign	0.01
IGL00977:Me2	APN	18	73,924,248 (GRCm39)	missense	probably benign	0.24
IGL01161:Me2	APN	18	73,903,887 (GRCm39)	splice site	probably benign
IGL02351:Me2	APN	18	73,931,038 (GRCm39)	missense	probably benign	0.20
IGL02358:Me2	APN	18	73,931,038 (GRCm39)	missense	probably benign	0.20
IGL02647:Me2	APN	18	73,930,974 (GRCm39)	missense	probably benign	0.00
IGL03172:Me2	APN	18	73,903,797 (GRCm39)	missense	probably benign
Baako	UTSW	18	73,931,016 (GRCm39)	missense	probably damaging	1.00
excavator	UTSW	18	73,914,129 (GRCm39)	missense	probably damaging	1.00
first_born	UTSW	18	73,924,199 (GRCm39)	nonsense	probably null
muster	UTSW	18	73,924,915 (GRCm39)	missense	probably benign	0.01
powerhouse	UTSW	18	73,918,800 (GRCm39)	missense	probably damaging	1.00
roundup	UTSW	18	73,903,744 (GRCm39)	missense	probably benign
R0018:Me2	UTSW	18	73,924,923 (GRCm39)	missense	possibly damaging	0.93
R0018:Me2	UTSW	18	73,924,923 (GRCm39)	missense	possibly damaging	0.93
R0032:Me2	UTSW	18	73,927,596 (GRCm39)	missense	probably benign
R0119:Me2	UTSW	18	73,903,744 (GRCm39)	missense	probably benign
R0136:Me2	UTSW	18	73,903,744 (GRCm39)	missense	probably benign
R0299:Me2	UTSW	18	73,903,744 (GRCm39)	missense	probably benign
R0657:Me2	UTSW	18	73,903,744 (GRCm39)	missense	probably benign
R1597:Me2	UTSW	18	73,931,016 (GRCm39)	missense	probably damaging	1.00
R1638:Me2	UTSW	18	73,906,205 (GRCm39)	missense	probably benign	0.03
R1765:Me2	UTSW	18	73,924,929 (GRCm39)	missense	probably damaging	1.00
R1861:Me2	UTSW	18	73,918,785 (GRCm39)	missense	probably benign	0.11
R2410:Me2	UTSW	18	73,924,183 (GRCm39)	missense	probably damaging	0.98
R3422:Me2	UTSW	18	73,924,265 (GRCm39)	missense	probably damaging	0.99
R3954:Me2	UTSW	18	73,914,203 (GRCm39)	missense	probably damaging	1.00
R3957:Me2	UTSW	18	73,914,203 (GRCm39)	missense	probably damaging	1.00
R4052:Me2	UTSW	18	73,924,156 (GRCm39)	missense	probably benign	0.05
R4207:Me2	UTSW	18	73,924,156 (GRCm39)	missense	probably benign	0.05
R4208:Me2	UTSW	18	73,924,156 (GRCm39)	missense	probably benign	0.05
R4962:Me2	UTSW	18	73,918,847 (GRCm39)	missense	probably damaging	1.00
R5527:Me2	UTSW	18	73,924,187 (GRCm39)	missense	probably damaging	1.00
R6170:Me2	UTSW	18	73,918,852 (GRCm39)	missense	probably benign	0.07
R6185:Me2	UTSW	18	73,924,199 (GRCm39)	nonsense	probably null
R6305:Me2	UTSW	18	73,924,915 (GRCm39)	missense	probably benign	0.01
R6462:Me2	UTSW	18	73,908,470 (GRCm39)	missense	probably benign	0.17
R7015:Me2	UTSW	18	73,914,218 (GRCm39)	splice site	probably null
R7085:Me2	UTSW	18	73,914,129 (GRCm39)	missense	probably damaging	1.00
R7096:Me2	UTSW	18	73,927,961 (GRCm39)	missense	probably benign	0.05
R9373:Me2	UTSW	18	73,918,800 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTGTGTGGAGTGCACAC -3'
(R):5'- TCTTTGCATATGCTCATCAGGATG -3'

Sequencing Primer
(F):5'- ACGATTCTAAGATAAGGCTGCC -3'
(R):5'- CATCCGCCTCAAAGCATT -3'

Posted On

2015-10-21