Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:Me1'

203542

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

039836-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86463416-86577967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86532932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 197 (T197S)

Ref Sequence

ENSEMBL: ENSMUSP00000034989 (fasta)

Gene Model

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

AlphaFold

P06801

Predicted Effect

probably damaging
Transcript: ENSMUST00000034989
AA Change: T197S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: T197S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185374
AA Change: T177S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: T177S

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

Meta Mutation Damage Score

0.8716

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 36,205,961 (GRCm39)	W27*	probably null	Het
4933430I17Rik	T	A	4: 62,460,993 (GRCm39)	Y289*	probably null	Het
A3galt2	A	G	4: 128,661,394 (GRCm39)	I348V	probably benign	Het
Abca13	A	G	11: 9,241,755 (GRCm39)	Y1206C	probably damaging	Het
Adar	T	C	3: 89,642,172 (GRCm39)	S18P	probably benign	Het
Akr1cl	T	C	1: 65,061,106 (GRCm39)	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873 (GRCm39)	Y137C	possibly damaging	Het
Arsa	T	C	15: 89,359,525 (GRCm39)	M86V	possibly damaging	Het
Atg9b	C	A	5: 24,592,055 (GRCm39)	R648L	probably damaging	Het
Atrn	A	G	2: 130,824,692 (GRCm39)	N1042S	possibly damaging	Het
Ccdc6	T	A	10: 70,010,989 (GRCm39)	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,101,203 (GRCm39)	S354P	unknown	Het
Chst3	T	A	10: 60,022,130 (GRCm39)	Y239F	probably benign	Het
Cilp2	C	A	8: 70,334,844 (GRCm39)	R718L	probably damaging	Het
Col27a1	A	G	4: 63,249,586 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,616,137 (GRCm39)	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,620,017 (GRCm39)	V123A	probably damaging	Het
Cyria	G	A	12: 12,411,505 (GRCm39)	R123Q	probably benign	Het
D7Ertd443e	T	A	7: 133,895,034 (GRCm39)	E552V	probably null	Het
Dcst1	T	A	3: 89,260,848 (GRCm39)	H516L	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Drd2	C	T	9: 49,316,367 (GRCm39)	L376F	probably damaging	Het
Edn1	A	G	13: 42,460,270 (GRCm39)	N175S	probably damaging	Het
Eipr1	G	T	12: 28,816,838 (GRCm39)	G65V	probably damaging	Het
Epha4	G	A	1: 77,351,541 (GRCm39)	P905S	probably benign	Het
Erbb2	T	C	11: 98,319,680 (GRCm39)	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,335,761 (GRCm39)	R478C	probably benign	Het
Fat2	T	C	11: 55,180,085 (GRCm39)	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645 (GRCm38)	T2239I	probably benign	Het
Gm7713	T	C	15: 59,866,320 (GRCm39)		noncoding transcript	Het
Hsf5	C	T	11: 87,548,168 (GRCm39)	P617L	probably benign	Het
Kcnk12	C	A	17: 88,053,468 (GRCm39)	R398L	probably benign	Het
Kif21b	T	A	1: 136,075,531 (GRCm39)	N219K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra5	A	T	6: 129,876,383 (GRCm39)	F141L	probably benign	Het
Lmtk3	C	T	7: 45,442,702 (GRCm39)	P462S	probably benign	Het
Mast2	A	G	4: 116,167,938 (GRCm39)		probably benign	Het
Msr1	T	A	8: 40,072,948 (GRCm39)	Q267L	probably benign	Het
Nfic	T	C	10: 81,240,819 (GRCm39)	T328A	probably benign	Het
Nphp3	G	A	9: 103,897,940 (GRCm39)	D390N	probably benign	Het
Nr2e1	T	A	10: 42,458,905 (GRCm39)		probably null	Het
Nt5el	A	T	13: 105,218,744 (GRCm39)	Q26L	probably benign	Het
Or52e19b	T	A	7: 103,032,790 (GRCm39)	N140Y	probably benign	Het
Or5t9	T	A	2: 86,659,445 (GRCm39)	F116L	probably benign	Het
Pard6b	T	C	2: 167,929,332 (GRCm39)	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,173,436 (GRCm39)	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,736,815 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,785,941 (GRCm39)	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,378,413 (GRCm39)	I1180N	possibly damaging	Het
Rnf26rt	A	G	6: 76,474,397 (GRCm39)	V73A	probably benign	Het
Rph3a	T	C	5: 121,083,456 (GRCm39)	N605D	probably damaging	Het
Sema6a	A	G	18: 47,409,491 (GRCm39)	V592A	possibly damaging	Het
Skint11	A	T	4: 114,051,893 (GRCm39)	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,677,118 (GRCm39)	P72H	probably damaging	Het
Sobp	T	G	10: 43,036,822 (GRCm39)	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,233,627 (GRCm39)	Y574F	probably damaging	Het
Spns3	C	T	11: 72,429,166 (GRCm39)	W206*	probably null	Het
Srf	A	G	17: 46,864,685 (GRCm39)	V190A	possibly damaging	Het
Stag1	T	G	9: 100,790,719 (GRCm39)	H742Q	probably benign	Het
Strn3	A	T	12: 51,673,986 (GRCm39)	S542T	probably benign	Het
Synpo2	T	C	3: 122,873,906 (GRCm39)	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 137,996,826 (GRCm39)	H137L	probably benign	Het
Tlr12	A	T	4: 128,511,229 (GRCm39)	D340E	probably benign	Het
Tmem130	T	A	5: 144,692,174 (GRCm39)	T77S	probably benign	Het
Tmem143	C	A	7: 45,547,037 (GRCm39)	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trem1	G	T	17: 48,548,663 (GRCm39)	G67*	probably null	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Txndc9	A	T	1: 38,033,096 (GRCm39)	H95Q	probably damaging	Het
Yju2b	C	T	8: 84,986,936 (GRCm39)	R187Q	probably damaging	Het
Zfp35	T	A	18: 24,136,986 (GRCm39)	N443K	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
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
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'- CGTGGCGTCAATACTTATTCAAAG -3'
(R):5'- GACCAGTAATGAAGACGGCC -3'

Sequencing Primer
(F):5'- TTGAGACCACTAAGGAGGATGAATTC -3'
(R):5'- GACCAGTAATGAAGACGGCCTTTTTG -3'

Posted On

2014-06-23