Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Me1'

729297

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86463416-86577967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86469047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 506 (I506T)

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: I506T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: I506T

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: I486T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: I486T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly 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
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
RF001:Me1	UTSW	9	86,464,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGATAAAATGCAGCTCCCC -3'
(R):5'- TTTCTGTTGCTAAAGGGCCATG -3'

Sequencing Primer
(F):5'- GGATAAAATGCAGCTCCCCAGTAG -3'
(R):5'- CTGTTGCTAAAGGGCCATGATACTAG -3'

Posted On

2022-10-06