Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:Me1'

487577

Institutional Source

Beutler Lab

Gene Symbol

Me1

Ensembl Gene

ENSMUSG00000032418

Gene Name

malic enzyme 1, NADP(+)-dependent, cytosolic

Synonyms

Mdh-1, Mod-1, D9Ertd267e, Mod1

MMRRC Submission

044276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86463416-86577967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86533009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 151 (V151E)

Ref Sequence

ENSEMBL: ENSMUSP00000140887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034989] [ENSMUST00000185374]

AlphaFold

P06801

Predicted Effect

probably damaging
Transcript: ENSMUST00000034989
AA Change: V171E

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

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: V171E

Domain	Start	End	E-Value	Type
malic	79	260	7.34e-106	SMART
Malic_M	270	522	1.09e-111	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185374
AA Change: V151E

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

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: V151E

Domain	Start	End	E-Value	Type
malic	59	240	7.34e-106	SMART
Malic_M	250	502	1.09e-111	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit decreased body weight on a medium fat diet, altered cytoplasmic malic enzyme activity, and a male-specific reduction in food intake on a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,789,137 (GRCm39)	Y354F	probably damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Acsm2	G	A	7: 119,190,470 (GRCm39)		probably null	Het
Adgrl1	A	G	8: 84,645,616 (GRCm39)	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,505,274 (GRCm39)	Y159*	probably null	Het
Bcl2l2	G	A	14: 55,122,202 (GRCm39)	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,914,970 (GRCm39)	H293R	probably benign	Het
Ccn1	T	C	3: 145,354,986 (GRCm39)	I90V	possibly damaging	Het
Clec4b1	A	G	6: 123,045,461 (GRCm39)	T94A	possibly damaging	Het
Crim1	A	G	17: 78,588,738 (GRCm39)	D271G	probably benign	Het
Csmd2	G	A	4: 128,387,127 (GRCm39)	G2141S	possibly damaging	Het
Cspg4b	T	A	13: 113,505,340 (GRCm39)	Y2156*	probably null	Het
Ctnnal1	C	A	4: 56,829,573 (GRCm39)	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,774,851 (GRCm39)	R264H	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsc2	T	A	18: 20,178,487 (GRCm39)	T306S	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	T	19: 29,600,609 (GRCm39)	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5114	C	T	7: 39,058,024 (GRCm39)	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,780,418 (GRCm39)	L168P	probably damaging	Het
Hao2	T	C	3: 98,787,842 (GRCm39)	T196A	probably benign	Het
Hdac9	A	C	12: 34,337,474 (GRCm39)	L669R	probably damaging	Het
Hps5	A	G	7: 46,421,198 (GRCm39)	V755A	probably benign	Het
Jag2	G	T	12: 112,883,969 (GRCm39)	Y203*	probably null	Het
Lrrn3	G	A	12: 41,503,787 (GRCm39)	Q177*	probably null	Het
Mkx	A	G	18: 6,992,888 (GRCm39)	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,522,836 (GRCm39)	S643P	probably benign	Het
Mysm1	C	A	4: 94,856,192 (GRCm39)	R135L	probably damaging	Het
Nup210l	T	C	3: 90,011,483 (GRCm39)	F4L	probably benign	Het
Pappa2	A	T	1: 158,542,567 (GRCm39)	C1773*	probably null	Het
Pcbp3	T	C	10: 76,599,182 (GRCm39)	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,410,912 (GRCm39)	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,261,379 (GRCm39)	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,178,467 (GRCm39)	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf7	A	G	14: 30,962,820 (GRCm39)	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,818,543 (GRCm39)	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,955,135 (GRCm39)	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,819,990 (GRCm39)	W251*	probably null	Het
Prps1l1	A	G	12: 35,035,329 (GRCm39)	E148G	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Robo3	A	G	9: 37,334,589 (GRCm39)	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	A	T	11: 50,308,075 (GRCm39)	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271 (GRCm39)	F1112S	probably damaging	Het
Sap130	T	C	18: 31,815,144 (GRCm39)	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,059,513 (GRCm39)	C1124F	probably damaging	Het
Stk10	T	A	11: 32,565,871 (GRCm39)	C872S	probably damaging	Het
Tex15	A	T	8: 34,064,158 (GRCm39)	N1196I	possibly damaging	Het
Tnxa	A	G	17: 35,019,262 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,635,815 (GRCm39)	T171S	probably benign	Het

Other mutations in Me1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Me1	APN	9	86,480,801 (GRCm39)	missense	probably damaging	1.00
IGL01326:Me1	APN	9	86,480,771 (GRCm39)	critical splice donor site	probably null
IGL02231:Me1	APN	9	86,493,908 (GRCm39)	missense	possibly damaging	0.92
IGL02343:Me1	APN	9	86,536,694 (GRCm39)	critical splice donor site	probably null
IGL02444:Me1	APN	9	86,464,967 (GRCm39)	splice site	probably benign
IGL02655:Me1	APN	9	86,536,780 (GRCm39)	splice site	probably benign
IGL03282:Me1	APN	9	86,495,649 (GRCm39)	missense	probably damaging	0.99
R0116:Me1	UTSW	9	86,536,720 (GRCm39)	missense	probably benign	0.01
R0270:Me1	UTSW	9	86,478,257 (GRCm39)	splice site	probably benign
R0361:Me1	UTSW	9	86,533,055 (GRCm39)	missense	probably damaging	1.00
R1535:Me1	UTSW	9	86,469,096 (GRCm39)	missense	probably damaging	0.96
R1601:Me1	UTSW	9	86,560,065 (GRCm39)	missense	probably damaging	1.00
R1807:Me1	UTSW	9	86,532,932 (GRCm39)	missense	probably damaging	0.98
R2085:Me1	UTSW	9	86,495,607 (GRCm39)	missense	probably damaging	1.00
R2571:Me1	UTSW	9	86,536,751 (GRCm39)	missense	probably damaging	1.00
R3012:Me1	UTSW	9	86,493,965 (GRCm39)	missense	probably benign	0.00
R4649:Me1	UTSW	9	86,561,905 (GRCm39)	missense	probably benign	0.00
R5540:Me1	UTSW	9	86,561,926 (GRCm39)	missense	possibly damaging	0.60
R6727:Me1	UTSW	9	86,464,851 (GRCm39)	missense	possibly damaging	0.92
R7718:Me1	UTSW	9	86,561,953 (GRCm39)	missense	probably damaging	1.00
R8329:Me1	UTSW	9	86,501,790 (GRCm39)	missense	probably damaging	1.00
R8963:Me1	UTSW	9	86,480,844 (GRCm39)	missense	probably damaging	1.00
R9205:Me1	UTSW	9	86,480,847 (GRCm39)	missense	probably benign	0.00
R9460:Me1	UTSW	9	86,495,685 (GRCm39)	missense	probably damaging	1.00
R9696:Me1	UTSW	9	86,469,047 (GRCm39)	missense	probably damaging	1.00
RF001:Me1	UTSW	9	86,464,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGACCACTAAGGAGGATGAATTC -3'
(R):5'- AATGTATGCGTTCTTGTAGCTCAG -3'

Sequencing Primer
(F):5'- CTTATAACTGTCGGGGGCAGAG -3'
(R):5'- CAGTGTTTAATTGGAAGGCATTACC -3'

Posted On

2017-10-10