Mutagenetix > Incidental Mutation

Incidental Mutation 'R8963:Me1'

682499

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

068797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8963 (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 T at 86480844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 354 (F354I)

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: F354I

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

SMART Domains

Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: F354I

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: F334I

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

SMART Domains

Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: F334I

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: 99.5%
20x: 98.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,902,963 (GRCm39)	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,443 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,567,588 (GRCm39)	V5195E	probably benign	Het
Adora2b	C	T	11: 62,139,983 (GRCm39)	A19V	possibly damaging	Het
Ankrd28	A	G	14: 31,477,698 (GRCm39)	C115R	probably benign	Het
Ankrd35	T	A	3: 96,587,003 (GRCm39)	L106*	probably null	Het
Ankrd44	G	A	1: 54,801,538 (GRCm39)	A263V	probably damaging	Het
Apol7b	T	C	15: 77,308,120 (GRCm39)	K125R	possibly damaging	Het
Cacna1c	A	T	6: 118,719,232 (GRCm39)	L245*	probably null	Het
Cbll1	A	T	12: 31,538,199 (GRCm39)	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,311,641 (GRCm39)	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Cfap54	C	A	10: 92,864,562 (GRCm39)	G124*	probably null	Het
Chml	A	T	1: 175,514,601 (GRCm39)	L440H	probably damaging	Het
Chrnd	A	T	1: 87,122,603 (GRCm39)	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,498,677 (GRCm39)	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,926 (GRCm39)	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,136,519 (GRCm39)	R425L	probably damaging	Het
Daam1	A	G	12: 71,992,018 (GRCm39)	T279A	unknown	Het
Ebf2	G	T	14: 67,665,554 (GRCm39)	V571F	probably benign	Het
Elapor2	T	A	5: 9,487,792 (GRCm39)	N559K	probably damaging	Het
Elavl4	A	T	4: 110,063,776 (GRCm39)	I275N	probably damaging	Het
F11r	A	G	1: 171,288,505 (GRCm39)	Q116R	probably benign	Het
Foxred2	T	A	15: 77,829,805 (GRCm39)	D580V	probably benign	Het
Gatad1	A	C	5: 3,691,544 (GRCm39)	L4R	probably damaging	Het
Gcn1	T	A	5: 115,727,153 (GRCm39)	M670K	probably benign	Het
Greb1	A	T	12: 16,774,885 (GRCm39)	F171I	probably damaging	Het
Grin2b	A	G	6: 136,021,007 (GRCm39)	V98A	probably damaging	Het
Helz2	A	T	2: 180,871,407 (GRCm39)	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564 (GRCm39)		probably benign	Het
Ighv1-11	C	T	12: 114,575,864 (GRCm39)	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,741,754 (GRCm39)	S34T	probably damaging	Het
Il27ra	T	A	8: 84,767,711 (GRCm39)	N71Y	probably damaging	Het
Iqca1	G	T	1: 90,067,649 (GRCm39)	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,324,864 (GRCm39)	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,809,519 (GRCm39)	L13S	probably damaging	Het
Kif26b	G	A	1: 178,743,714 (GRCm39)	R1270Q	probably benign	Het
Klhdc2	A	T	12: 69,347,065 (GRCm39)	R77*	probably null	Het
Klra10	A	T	6: 130,249,617 (GRCm39)		probably null	Het
Large1	A	T	8: 73,542,612 (GRCm39)	I704N	probably damaging	Het
Lrp1b	G	A	2: 40,888,196 (GRCm39)	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,255,001 (GRCm39)	M212L	probably benign	Het
Mab21l1	A	G	3: 55,690,348 (GRCm39)		probably benign	Het
Map4k4	A	T	1: 40,039,740 (GRCm39)	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Nlrp1b	A	G	11: 71,108,658 (GRCm39)	V281A	probably damaging	Het
Nrip2	A	G	6: 128,385,288 (GRCm39)	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471 (GRCm39)	V203A	probably damaging	Het
Or12e8	T	A	2: 87,187,950 (GRCm39)	I54K	possibly damaging	Het
Or4g17	A	T	2: 111,209,645 (GRCm39)	Q100L	probably damaging	Het
Or4n5	A	T	14: 50,132,509 (GRCm39)	M250K	probably benign	Het
Or8g2	A	G	9: 39,821,495 (GRCm39)	Y132C	probably damaging	Het
P4ha2	T	C	11: 54,004,995 (GRCm39)	F124L	probably benign	Het
Pcdha9	A	T	18: 37,131,750 (GRCm39)	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnd1	G	T	6: 115,949,506 (GRCm39)	S760*	probably null	Het
Polr1b	A	G	2: 128,957,576 (GRCm39)	T544A	probably benign	Het
Polr2g	T	C	19: 8,771,513 (GRCm39)	D153G	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,506,255 (GRCm39)	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,105,739 (GRCm39)	Y285F	probably benign	Het
Ryr3	A	G	2: 112,667,015 (GRCm39)		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Sftpd	A	G	14: 40,905,001 (GRCm39)	V30A	probably benign	Het
Sirt6	A	G	10: 81,462,378 (GRCm39)	V7A	probably benign	Het
Ska1	C	T	18: 74,330,639 (GRCm39)	V188M	probably damaging	Het
Skint8	G	A	4: 111,794,241 (GRCm39)	M210I	probably benign	Het
Slc6a11	A	G	6: 114,202,782 (GRCm39)		probably null	Het
Slc6a2	A	T	8: 93,715,702 (GRCm39)	H280L	probably benign	Het
Sptan1	T	C	2: 29,873,744 (GRCm39)	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,752,135 (GRCm39)	T518S	probably benign	Het
Thoc2l	T	C	5: 104,665,652 (GRCm39)	V58A	probably benign	Het
Tsc22d1	T	C	14: 76,656,266 (GRCm39)	M59T	probably benign	Het
Unc5cl	A	G	17: 48,769,361 (GRCm39)	T282A	probably benign	Het
Vav3	A	G	3: 109,590,229 (GRCm39)	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,315,926 (GRCm39)	V631A	probably damaging	Het
Zfp938	A	T	10: 82,061,287 (GRCm39)	F444L	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
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'- GAAGGCAGAACTGAATTACACCTC -3'
(R):5'- AAGTGAAGTAATATGGTGGCCATTG -3'

Sequencing Primer
(F):5'- TACGAGAACCCTGCTACTTGAGTG -3'
(R):5'- CATTGGACGAGGGCTTCAC -3'

Posted On

2021-08-31