Mutagenetix > Incidental Mutation

Incidental Mutation 'R5878:Me3'

455656

Institutional Source

Beutler Lab

Gene Symbol

Me3

Ensembl Gene

ENSMUSG00000030621

Gene Name

malic enzyme 3, NADP(+)-dependent, mitochondrial

Synonyms

1700020C08Rik, B230207H15Rik

MMRRC Submission

044084-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89281492-89503423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89497214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 405 (L405Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032856]

AlphaFold

Q8BMF3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032853

SMART Domains

Protein: ENSMUSP00000032853
Gene: ENSMUSG00000030621

Domain	Start	End	E-Value	Type
Pfam:malic	1	26	7.5e-7	PFAM
Malic_M	36	288	5.68e-115	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032856
AA Change: L405Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: L405Q

Domain	Start	End	E-Value	Type
malic	114	295	4.77e-105	SMART
Malic_M	305	557	5.68e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159167

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,385,792 (GRCm39)	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286 (GRCm38)	V6I	probably benign	Het
Afap1l2	T	C	19: 56,904,107 (GRCm39)	T727A	probably benign	Het
Aggf1	T	C	13: 95,506,065 (GRCm39)	E174G	probably benign	Het
Ahnak	T	G	19: 8,985,706 (GRCm39)	L2330R	probably damaging	Het
Arb2a	T	A	13: 78,100,186 (GRCm39)	V129E	probably damaging	Het
Arfgef2	A	G	2: 166,712,137 (GRCm39)	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,233,827 (GRCm39)	L217P	probably benign	Het
Cfap54	T	C	10: 92,800,423 (GRCm39)	D1595G	probably benign	Het
Cps1	G	T	1: 67,197,037 (GRCm39)		probably null	Het
Fam120b	A	G	17: 15,622,502 (GRCm39)	D160G	probably damaging	Het
Fezf1	C	A	6: 23,247,580 (GRCm39)	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,225,145 (GRCm39)	L838H	probably benign	Het
Frmd3	G	A	4: 74,071,847 (GRCm39)	G243D	probably damaging	Het
Gldc	A	T	19: 30,120,867 (GRCm39)		probably null	Het
Gm10188	T	C	1: 132,156,940 (GRCm39)		probably benign	Het
Gm5190	T	A	12: 113,360,859 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,208,628 (GRCm39)		probably null	Het
Hdhd5	A	G	6: 120,491,485 (GRCm39)	L206P	probably damaging	Het
Herc2	A	G	7: 55,773,996 (GRCm39)	N1149S	probably benign	Het
Inca1	G	A	11: 70,586,808 (GRCm39)		probably benign	Het
Iqch	G	A	9: 63,455,272 (GRCm39)	S175F	probably damaging	Het
Itpr3	T	G	17: 27,329,836 (GRCm39)	D1543E	probably benign	Het
Khk	T	A	5: 31,088,219 (GRCm39)		probably null	Het
Kiz	C	T	2: 146,731,521 (GRCm39)	S337L	probably damaging	Het
Lzts3	G	A	2: 130,478,459 (GRCm39)	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,454,025 (GRCm39)	D325V	probably damaging	Het
Mctp2	A	G	7: 71,863,856 (GRCm39)	S336P	probably benign	Het
Mgst2	A	T	3: 51,568,651 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,083,330 (GRCm39)	E1431G	probably damaging	Het
Naip6	A	G	13: 100,436,181 (GRCm39)	S781P	probably damaging	Het
Nr3c2	A	G	8: 77,634,897 (GRCm39)		probably null	Het
Or10ab5	A	T	7: 108,244,946 (GRCm39)	L279Q	probably damaging	Het
Or6s1	A	G	14: 51,308,449 (GRCm39)	Y134H	probably damaging	Het
Or6x1	C	T	9: 40,098,867 (GRCm39)	T152I	probably benign	Het
Otop1	G	T	5: 38,435,166 (GRCm39)	R132L	possibly damaging	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,820,739 (GRCm39)	G763W	probably benign	Het
Pde10a	A	G	17: 9,168,204 (GRCm39)	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,089,080 (GRCm39)	I147T	probably benign	Het
Polh	T	A	17: 46,505,251 (GRCm39)	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,624,984 (GRCm39)	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,705,748 (GRCm39)	C132F	probably damaging	Het
Rbm19	T	A	5: 120,270,932 (GRCm39)	V585E	probably damaging	Het
Relch	T	A	1: 105,620,685 (GRCm39)	S387T	probably benign	Het
Rp1l1	C	T	14: 64,266,355 (GRCm39)	P647L	probably benign	Het
Rrp1b	A	G	17: 32,266,649 (GRCm39)	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,798,742 (GRCm39)	H392Q	probably benign	Het
Skic2	C	T	17: 35,065,093 (GRCm39)	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,144,217 (GRCm39)	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,904,122 (GRCm39)	E5V	probably benign	Het
Slc38a2	A	G	15: 96,590,465 (GRCm39)	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,391,561 (GRCm39)		probably benign	Het
Sri	G	C	5: 8,109,353 (GRCm39)	D46H	probably damaging	Het
Tango6	A	G	8: 107,415,800 (GRCm39)	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,501,749 (GRCm39)	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,172 (GRCm39)	D194G	probably benign	Het
Trank1	T	C	9: 111,195,753 (GRCm39)	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,386,255 (GRCm39)	D70G	probably benign	Het
Trim52	T	A	14: 106,344,375 (GRCm39)	M11K	probably damaging	Het
Wdr62	A	G	7: 29,940,772 (GRCm39)	M882T	probably benign	Het
Ybx3	A	G	6: 131,344,726 (GRCm39)		probably null	Het
Zfand2b	A	G	1: 75,147,154 (GRCm39)		probably benign	Het
Zfp91	T	A	19: 12,747,684 (GRCm39)	T480S	possibly damaging	Het

Other mutations in Me3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Me3	APN	7	89,498,844 (GRCm39)	missense	probably damaging	0.99
IGL01965:Me3	APN	7	89,500,951 (GRCm39)	missense	probably benign	0.03
IGL02657:Me3	APN	7	89,495,461 (GRCm39)	missense	probably benign	0.01
R0035:Me3	UTSW	7	89,500,967 (GRCm39)	missense	probably benign	0.01
R0144:Me3	UTSW	7	89,389,080 (GRCm39)	missense	probably damaging	0.98
R0206:Me3	UTSW	7	89,498,868 (GRCm39)	missense	probably benign
R0206:Me3	UTSW	7	89,498,868 (GRCm39)	missense	probably benign
R0360:Me3	UTSW	7	89,435,622 (GRCm39)	splice site	probably null
R1501:Me3	UTSW	7	89,282,273 (GRCm39)	missense	probably benign	0.01
R1579:Me3	UTSW	7	89,495,050 (GRCm39)	missense	possibly damaging	0.53
R1613:Me3	UTSW	7	89,435,628 (GRCm39)	splice site	probably benign
R1741:Me3	UTSW	7	89,501,041 (GRCm39)	missense	probably damaging	1.00
R1757:Me3	UTSW	7	89,282,230 (GRCm39)	missense	probably benign
R2177:Me3	UTSW	7	89,282,278 (GRCm39)	missense	probably benign	0.16
R2202:Me3	UTSW	7	89,499,589 (GRCm39)	missense	probably damaging	0.98
R3841:Me3	UTSW	7	89,435,701 (GRCm39)	missense	possibly damaging	0.73
R3928:Me3	UTSW	7	89,482,898 (GRCm39)	splice site	probably benign
R4183:Me3	UTSW	7	89,501,038 (GRCm39)	missense	probably benign	0.19
R4274:Me3	UTSW	7	89,455,934 (GRCm39)	missense	probably damaging	0.98
R4476:Me3	UTSW	7	89,389,068 (GRCm39)	missense	probably damaging	1.00
R4532:Me3	UTSW	7	89,282,108 (GRCm39)	start gained	probably benign
R4560:Me3	UTSW	7	89,498,938 (GRCm39)	missense	probably benign	0.32
R4947:Me3	UTSW	7	89,282,222 (GRCm39)	missense	probably benign
R5511:Me3	UTSW	7	89,455,876 (GRCm39)	missense	probably damaging	1.00
R5622:Me3	UTSW	7	89,445,871 (GRCm39)	missense	probably damaging	1.00
R6139:Me3	UTSW	7	89,282,108 (GRCm39)	start gained	probably benign
R6265:Me3	UTSW	7	89,498,951 (GRCm39)	missense	probably benign	0.00
R6923:Me3	UTSW	7	89,495,093 (GRCm39)	missense	probably damaging	1.00
R7419:Me3	UTSW	7	89,385,927 (GRCm39)	missense	probably damaging	1.00
R7516:Me3	UTSW	7	89,497,183 (GRCm39)	nonsense	probably null
R8390:Me3	UTSW	7	89,498,803 (GRCm39)	missense	probably damaging	1.00
R8434:Me3	UTSW	7	89,389,086 (GRCm39)	missense	probably damaging	1.00
R8859:Me3	UTSW	7	89,455,876 (GRCm39)	missense	probably damaging	1.00
R9801:Me3	UTSW	7	89,435,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCAGTCCAAAACACTGTC -3'
(R):5'- ACAAGTTGCAACTCCGGTC -3'

Sequencing Primer
(F):5'- TGTCAGAATCCTACTGCATCAAGG -3'
(R):5'- GCAACTCCGGTCCTTCATTTTTATAG -3'

Posted On

2017-02-10