Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Me2'

173344

Institutional Source

Beutler Lab

Gene Symbol

Me2

Ensembl Gene

ENSMUSG00000024556

Gene Name

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

Synonyms

D030040L20Rik

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73902974-73948520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73906205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 528 (I528T)

Ref Sequence

ENSEMBL: ENSMUSP00000025439 (fasta)

Gene Model

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

AlphaFold

Q99KE1

Predicted Effect

probably benign
Transcript: ENSMUST00000025439
AA Change: I528T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: I528T

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

0.0906

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Prepl	A	C	17: 85,379,509 (GRCm39)	M393R	probably benign	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,422,090 (GRCm39)	N172S	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc16a1	T	C	3: 104,556,798 (GRCm39)	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfp827	C	A	8: 79,802,975 (GRCm39)	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		probably null	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
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'- AGCCGTGCATATTTTCCTGAGCC -3'
(R):5'- cccctttctccacaCATGATGAGC -3'

Sequencing Primer
(F):5'- CCATCATCCAGAATATGTGGGTC -3'
(R):5'- ctccacaCATGATGAGCAGTTTTAC -3'

Posted On

2014-04-24