Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Me2'

175910

Institutional Source

Beutler Lab

Gene Symbol

Me2

Ensembl Gene

ENSMUSG00000024556

Gene Name

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

Synonyms

D030040L20Rik

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73902974-73948520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73931016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 92 (N92K)

Ref Sequence

ENSEMBL: ENSMUSP00000025439 (fasta)

Gene Model

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

AlphaFold

Q99KE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025439
AA Change: N92K

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

SMART Domains

Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: N92K

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

Meta Mutation Damage Score

0.9520

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
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
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'- CGATCAGGAGCTGGTTAAGTGAGC -3'
(R):5'- TGTTGACTCCTTAGCATTTCCAGGC -3'

Sequencing Primer
(F):5'- CTTTTATGAGGCAAGAAACCTGGC -3'
(R):5'- tgtgtgtgtgtgtgtctctg -3'

Posted On

2014-04-24