Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:Me2'

490416

Institutional Source

Beutler Lab

Gene Symbol

Me2

Ensembl Gene

ENSMUSG00000024556

Gene Name

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

Synonyms

D030040L20Rik

MMRRC Submission

044431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73902974-73948520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73918852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 410 (I410V)

Ref Sequence

ENSEMBL: ENSMUSP00000025439 (fasta)

Gene Model

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

AlphaFold

Q99KE1

Predicted Effect

probably benign
Transcript: ENSMUST00000025439
AA Change: I410V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: I410V

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,555 (GRCm39)	S90R	probably benign	Het
4930523C07Rik	C	A	1: 159,902,743 (GRCm39)	N4K	possibly damaging	Het
Adgrl2	A	G	3: 148,528,645 (GRCm39)	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,652,723 (GRCm39)	D94G	possibly damaging	Het
Anln	T	C	9: 22,279,793 (GRCm39)	N466D	probably benign	Het
Atp9b	T	A	18: 80,920,562 (GRCm39)	I231L	probably benign	Het
Bpifb3	T	A	2: 153,761,557 (GRCm39)	M2K	unknown	Het
Btbd3	T	C	2: 138,120,862 (GRCm39)	L12P	probably damaging	Het
Btnl6	T	A	17: 34,734,480 (GRCm39)	Y94F	probably damaging	Het
Cab39	T	A	1: 85,746,176 (GRCm39)	L19*	probably null	Het
Cacna2d2	A	G	9: 107,404,533 (GRCm39)	D1114G	probably damaging	Het
Cdcp3	A	T	7: 130,776,216 (GRCm39)		probably null	Het
Cdh11	A	G	8: 103,361,442 (GRCm39)	V632A	probably benign	Het
Cemip	T	G	7: 83,596,438 (GRCm39)	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,795,511 (GRCm39)	P1522Q	unknown	Het
Colgalt1	C	T	8: 72,074,514 (GRCm39)	L409F	probably damaging	Het
Crtc2	A	G	3: 90,166,907 (GRCm39)	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,458,519 (GRCm39)	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,184,643 (GRCm39)	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Ddah1	A	G	3: 145,597,261 (GRCm39)	D166G	probably benign	Het
Dmtn	T	C	14: 70,854,795 (GRCm39)	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,469,043 (GRCm39)	D607V	probably damaging	Het
Ebf1	T	A	11: 44,774,712 (GRCm39)	N236K	probably damaging	Het
Emc1	A	G	4: 139,093,689 (GRCm39)	T600A	probably benign	Het
Fbxo33	T	C	12: 59,251,435 (GRCm39)	N360S	probably benign	Het
Fbxw5	A	G	2: 25,393,615 (GRCm39)	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,618,263 (GRCm39)	K1388*	probably null	Het
Fzd7	A	G	1: 59,523,004 (GRCm39)	M296V	probably benign	Het
Gdpd3	T	C	7: 126,370,336 (GRCm39)	I257T	probably benign	Het
Glt28d2	T	G	3: 85,779,248 (GRCm39)	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,502,937 (GRCm39)		probably benign	Het
Gm28729	A	G	9: 96,401,494 (GRCm39)	I98T	probably damaging	Het
Gm4924	C	T	10: 82,213,065 (GRCm39)	Q288*	probably null	Het
Gpr150	T	C	13: 76,204,676 (GRCm39)	M90V	probably damaging	Het
Ireb2	G	A	9: 54,794,656 (GRCm39)	V331I	probably benign	Het
Lpcat2b	A	T	5: 107,581,760 (GRCm39)	Y363F	probably benign	Het
Naxe	T	C	3: 87,965,537 (GRCm39)	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,523,671 (GRCm39)	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,046,905 (GRCm39)	Y1149F	probably damaging	Het
Nrg1	A	G	8: 32,308,508 (GRCm39)	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,304,104 (GRCm39)	P64S	probably benign	Het
Pkd1l3	A	T	8: 110,349,811 (GRCm39)	T219S	unknown	Het
Plagl1	T	C	10: 13,002,975 (GRCm39)	L81P	probably damaging	Het
Poglut3	T	C	9: 53,311,042 (GRCm39)	V481A	possibly damaging	Het
Polq	A	G	16: 36,866,174 (GRCm39)	Q457R	possibly damaging	Het
Potefam1	A	G	2: 111,058,293 (GRCm39)	Y167H	probably benign	Het
Ppargc1a	C	A	5: 51,631,253 (GRCm39)	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,104,362 (GRCm39)	D253G	probably benign	Het
Prl2c2	T	A	13: 13,176,757 (GRCm39)	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,935 (GRCm39)	F470S	probably benign	Het
Serpina12	T	C	12: 104,004,500 (GRCm39)	D44G	probably benign	Het
Sfxn1	T	G	13: 54,260,526 (GRCm39)	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,388,446 (GRCm39)	D224G	probably benign	Het
Slc30a7	A	G	3: 115,784,392 (GRCm39)	F123S	probably damaging	Het
Spata31f1a	A	G	4: 42,849,345 (GRCm39)	V937A	probably benign	Het
Stox2	T	A	8: 47,645,055 (GRCm39)	M802L	probably benign	Het
Tmem150a	G	A	6: 72,333,728 (GRCm39)	R30H	probably benign	Het
Tmem210	G	A	2: 25,178,776 (GRCm39)		probably null	Het
Tor3a	T	C	1: 156,484,143 (GRCm39)	N269S	possibly damaging	Het
Trp63	A	C	16: 25,703,603 (GRCm39)	N423T	probably benign	Het
Vmn2r60	A	G	7: 41,785,045 (GRCm39)	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,348 (GRCm39)	I333V	probably benign	Het
Vwa7	C	A	17: 35,240,186 (GRCm39)	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,687,014 (GRCm39)		probably null	Het
Wdr31	A	G	4: 62,381,661 (GRCm39)	Y57H	probably damaging	Het
Zbtb44	T	A	9: 30,964,678 (GRCm39)	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,757,509 (GRCm39)	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,521,084 (GRCm39)	R184S	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
R4694:Me2	UTSW	18	73,934,930 (GRCm39)	missense	probably benign	0.01
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
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'- TGACACACTTACGGCAGACTTG -3'
(R):5'- CGTCTTTGTACCGATACCCGTG -3'

Sequencing Primer
(F):5'- ACTTACGGCAGACTTGGTGACTC -3'
(R):5'- CGTGAGAACCGGTTTGTTA -3'

Posted On

2017-10-10