Mutagenetix > Incidental Mutations

Incidental Mutation 'R1601:Me1'

176158

Institutional Source

Beutler Lab

Gene Symbol

Me1

Ensembl Gene

ENSMUSG00000032418

Gene Name

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

Synonyms

Mod-1, Mdh-1, Mod1, D9Ertd267e

MMRRC Submission

039638-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86581371-86695953 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86678012 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 52 (Y52D)

Ref Sequence

ENSEMBL: ENSMUSP00000140887 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034989
AA Change: Y72D

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

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: Y72D

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: Y52D

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

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: Y52D

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,870,213	S169N	probably benign	Het
4933416C03Rik	T	C	10: 116,113,616	S2G	probably damaging	Het
Adgra2	T	C	8: 27,110,018		probably null	Het
Adgrb2	T	C	4: 129,992,837	S257P	probably benign	Het
Adgre1	A	G	17: 57,441,353	K518E	probably benign	Het
Anxa7	A	T	14: 20,464,615	Y64*	probably null	Het
Arhgef7	A	G	8: 11,782,638		probably null	Het
Cdc42bpa	T	A	1: 180,065,001	Y243*	probably null	Het
Cdk14	C	T	5: 5,135,378	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,333,631	E54G	probably damaging	Het
Crx	T	C	7: 15,867,811		probably null	Het
Cyp24a1	A	G	2: 170,485,691	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,150,385	M810V	probably damaging	Het
Dock10	T	C	1: 80,549,802	T1077A	probably benign	Het
Dopey1	G	A	9: 86,536,250	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,766,408	H241L	probably benign	Het
Enah	A	T	1: 181,919,620	L523*	probably null	Het
Fabp3	T	C	4: 130,308,848	L24P	probably benign	Het
Fat2	A	G	11: 55,282,010	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,968,965	M337T	possibly damaging	Het
Gas6	G	T	8: 13,465,786	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Hrh4	G	A	18: 13,015,898	V106I	possibly damaging	Het
Ido2	G	T	8: 24,576,189	H20Q	possibly damaging	Het
Ikbkap	T	A	4: 56,774,756	K740*	probably null	Het
Itga10	G	T	3: 96,653,658	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,658,452	S836P	probably benign	Het
Kcng3	A	T	17: 83,588,339	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,808,731	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,005,088	S553G	probably benign	Het
Krt82	A	T	15: 101,545,153	I266N	probably damaging	Het
Lama5	A	T	2: 180,197,745	L736Q	probably damaging	Het
Lnx2	A	G	5: 147,033,519	C138R	probably damaging	Het
Mcm5	T	C	8: 75,119,354	C397R	possibly damaging	Het
Muc4	C	A	16: 32,755,501		probably benign	Het
Myo18b	G	T	5: 112,871,498	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,185,772	L170P	probably damaging	Het
Neb	A	T	2: 52,287,252	L1359*	probably null	Het
Nomo1	C	A	7: 46,046,955	S299Y	probably damaging	Het
Olfr1359	C	A	13: 21,703,226	T75K	probably damaging	Het
Olfr1509	A	C	14: 52,450,442	T10P	probably benign	Het
Olfr322	A	T	11: 58,666,077	R173W	probably damaging	Het
Olfr57	A	T	10: 79,035,504	Y236F	possibly damaging	Het
Onecut1	A	T	9: 74,862,691	H132L	probably benign	Het
Paqr3	A	G	5: 97,111,389	Y19H	probably benign	Het
Prdx5	T	C	19: 6,907,558	H140R	possibly damaging	Het
Prox1	T	C	1: 190,161,006	D414G	probably damaging	Het
Ptprh	T	G	7: 4,552,638	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,917,222	D412V	possibly damaging	Het
Sars2	C	T	7: 28,748,971	T259M	probably benign	Het
Sbf2	T	C	7: 110,340,076		probably null	Het
Sbno2	C	T	10: 80,060,492	R898H	probably damaging	Het
Smox	C	A	2: 131,520,174	T172N	probably damaging	Het
Tdrd9	C	T	12: 112,023,253	R341*	probably null	Het
Thrap3	C	G	4: 126,180,101	G284A	probably damaging	Het
Tmtc4	A	G	14: 122,944,826	V271A	probably benign	Het
Trank1	A	G	9: 111,373,477	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,896,835	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,436	V1398A	probably benign	Het
Xbp1	C	T	11: 5,521,975	R34W	probably damaging	Het

Other mutations in Me1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Me1	APN	9	86598748	missense	probably damaging	1.00
IGL01326:Me1	APN	9	86598718	critical splice donor site	probably null
IGL02231:Me1	APN	9	86611855	missense	possibly damaging	0.92
IGL02343:Me1	APN	9	86654641	critical splice donor site	probably null
IGL02444:Me1	APN	9	86582914	splice site	probably benign
IGL02655:Me1	APN	9	86654727	splice site	probably benign
IGL03282:Me1	APN	9	86613596	missense	probably damaging	0.99
R0116:Me1	UTSW	9	86654667	missense	probably benign	0.01
R0270:Me1	UTSW	9	86596204	splice site	probably benign
R0361:Me1	UTSW	9	86651002	missense	probably damaging	1.00
R1535:Me1	UTSW	9	86587043	missense	probably damaging	0.96
R1807:Me1	UTSW	9	86650879	missense	probably damaging	0.98
R2085:Me1	UTSW	9	86613554	missense	probably damaging	1.00
R2571:Me1	UTSW	9	86654698	missense	probably damaging	1.00
R3012:Me1	UTSW	9	86611912	missense	probably benign	0.00
R4649:Me1	UTSW	9	86679852	missense	probably benign	0.00
R5540:Me1	UTSW	9	86679873	missense	possibly damaging	0.60
R6129:Me1	UTSW	9	86650956	missense	probably damaging	1.00
R6727:Me1	UTSW	9	86582798	missense	possibly damaging	0.92
R7718:Me1	UTSW	9	86679900	missense	probably damaging	1.00
R8329:Me1	UTSW	9	86619737	missense	probably damaging	1.00
RF001:Me1	UTSW	9	86582823	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGTGCCATACCTTGGCTTCC -3'
(R):5'- CGTAAGTTAGTGGTTAAACTCTCCCGTG -3'

Sequencing Primer
(F):5'- CGGAATGCCAAACTGTACTG -3'
(R):5'- gacaggctctctcactgaac -3'

Posted On

2014-04-24