Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Me1'

435892

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

043098-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86463416-86577967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86561926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 53 (L53P)

Ref Sequence

ENSEMBL: ENSMUSP00000034989 (fasta)

Gene Model

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

AlphaFold

P06801

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034989
AA Change: L53P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: L53P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185374
AA Change: L33P

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: L33P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193572

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,012,371 (GRCm39)	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388 (GRCm39)	H305L	probably benign	Het
Adam26b	C	A	8: 43,974,654 (GRCm39)	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,543,198 (GRCm39)		probably null	Het
Akr1b10	A	G	6: 34,371,047 (GRCm39)	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,187,178 (GRCm39)	V186A	probably benign	Het
Alpk3	G	A	7: 80,745,184 (GRCm39)	V1311M	probably damaging	Het
Aox1	A	G	1: 58,143,569 (GRCm39)	N1229S	probably benign	Het
Apobec3	T	A	15: 79,782,120 (GRCm39)	N43K	probably benign	Het
Arid1a	A	C	4: 133,407,765 (GRCm39)	D2247E	unknown	Het
Asph	A	G	4: 9,635,906 (GRCm39)	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,878,231 (GRCm39)	T94S	probably damaging	Het
Celf2	T	C	2: 6,558,743 (GRCm39)	T382A	probably benign	Het
Cfap54	C	T	10: 92,808,470 (GRCm39)	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,686,476 (GRCm39)	V48E	probably benign	Het
Col6a5	T	A	9: 105,739,975 (GRCm39)	E2548V	probably benign	Het
Crebrf	A	G	17: 26,961,071 (GRCm39)	D56G	possibly damaging	Het
Dctn5	A	G	7: 121,734,275 (GRCm39)	T40A	probably benign	Het
Dmxl2	A	T	9: 54,301,141 (GRCm39)	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,627,384 (GRCm39)	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,486,202 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,039,610 (GRCm39)	F454Y	probably damaging	Het
Fbxo38	A	G	18: 62,647,864 (GRCm39)		probably null	Het
Flg	T	C	3: 93,184,923 (GRCm39)	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,555,651 (GRCm39)	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,334,356 (GRCm39)	G45R	probably damaging	Het
Garin3	A	G	11: 46,295,715 (GRCm39)	N29S	probably damaging	Het
Gfi1	T	A	5: 107,867,991 (GRCm39)	T360S	probably damaging	Het
Grik4	T	C	9: 42,432,243 (GRCm39)	H918R	probably damaging	Het
Hpx	A	G	7: 105,241,119 (GRCm39)	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,558,979 (GRCm39)	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,915,860 (GRCm39)	M546L	probably benign	Het
Map3k9	G	T	12: 81,819,587 (GRCm39)	N222K	probably damaging	Het
Mis18bp1	T	C	12: 65,195,520 (GRCm39)	E748G	possibly damaging	Het
Morc3	T	A	16: 93,644,268 (GRCm39)	N186K	probably benign	Het
Mtor	A	G	4: 148,539,165 (GRCm39)	T221A	probably benign	Het
Muc6	A	G	7: 141,235,850 (GRCm39)		probably null	Het
Myh8	C	A	11: 67,177,266 (GRCm39)	T444N	probably benign	Het
Myo7b	A	G	18: 32,140,143 (GRCm39)	Y216H	probably damaging	Het
Myom1	G	A	17: 71,416,782 (GRCm39)	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,460,801 (GRCm39)	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,164,546 (GRCm39)	S1168P	probably damaging	Het
Or4c58	A	G	2: 89,675,011 (GRCm39)	F102S	probably damaging	Het
Or4d2	T	A	11: 87,784,511 (GRCm39)	K80*	probably null	Het
Or51f5	C	T	7: 102,424,136 (GRCm39)	A135V	probably benign	Het
Or5an9	T	A	19: 12,187,824 (GRCm39)	I298N	probably damaging	Het
Or6c8b	G	T	10: 128,882,364 (GRCm39)	D189E	probably damaging	Het
Pcdha4	C	A	18: 37,087,890 (GRCm39)	A691E	probably benign	Het
Pde6a	T	G	18: 61,364,438 (GRCm39)	F165V	probably damaging	Het
Ptpn14	A	T	1: 189,578,561 (GRCm39)	M340L	probably benign	Het
Rnasel	G	T	1: 153,630,890 (GRCm39)	E469*	probably null	Het
Rsph3a	T	G	17: 8,164,790 (GRCm39)	L50R	probably benign	Het
Rusc2	A	G	4: 43,423,975 (GRCm39)	Y1043C	probably damaging	Het
Serpinb6b	A	T	13: 33,161,541 (GRCm39)	K86*	probably null	Het
Serpine1	T	C	5: 137,092,063 (GRCm39)	T392A	probably benign	Het
Shcbp1	A	T	8: 4,794,529 (GRCm39)	D421E	probably damaging	Het
Slc24a1	A	G	9: 64,855,863 (GRCm39)	V348A	unknown	Het
Slc26a7	A	G	4: 14,506,621 (GRCm39)	F605L	probably benign	Het
Slc66a1	A	T	4: 139,027,655 (GRCm39)	L229Q	probably damaging	Het
Spag17	A	C	3: 99,963,588 (GRCm39)	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,683,989 (GRCm39)	V2390A	probably benign	Het
Stk11	A	G	10: 79,961,883 (GRCm39)	I35V	probably benign	Het
Stk24	T	C	14: 121,531,693 (GRCm39)	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,801,994 (GRCm39)	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,060,681 (GRCm39)	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,098,380 (GRCm39)	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,429,037 (GRCm39)	R268Q	probably benign	Het
Trhde	T	A	10: 114,636,497 (GRCm39)	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,633,915 (GRCm39)	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,726,831 (GRCm39)		probably benign	Het
Vps16	T	A	2: 130,284,305 (GRCm39)	D685E	probably benign	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Wdr59	A	G	8: 112,211,816 (GRCm39)	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,339,896 (GRCm39)	E1364G	probably damaging	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
R6129:Me1	UTSW	9	86,533,009 (GRCm39)	missense	probably damaging	1.00
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'- CTGTATCTGCAAACAAATTCTCCTC -3'
(R):5'- TAGTGTCTGCGGCTAAGGAAG -3'

Sequencing Primer
(F):5'- CTCCTCAAAGTTAACTAATCCATTCC -3'
(R):5'- TAGTGCACAGTTGGCCG -3'

Posted On

2016-10-24