Mutagenetix > Incidental Mutations

Incidental Mutation 'R4581:Mars2'

343638

Institutional Source

Beutler Lab

Gene Symbol

Mars2

Ensembl Gene

ENSMUSG00000046994

Gene Name

methionine-tRNA synthetase 2 (mitochondrial)

Synonyms

C730026E21Rik

MMRRC Submission

041802-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55237177-55248470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55237862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 208 (L208H)

Ref Sequence

ENSEMBL: ENSMUSP00000049770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061334]

AlphaFold

Q499X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000061334
AA Change: L208H

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

SMART Domains

Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: L208H

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	28	135	1.5e-6	PFAM
Pfam:tRNA-synt_1g	38	404	3.3e-109	PFAM
Pfam:tRNA-synt_1	263	376	4.4e-11	PFAM
Pfam:tRNA-synt_1e	319	387	3.4e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209801

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970		probably null	Het
Camk1d	A	T	2: 5,354,704	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984		silent	Het
Dlgap2	T	C	8: 14,846,679	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338		probably null	Het
Fbxw7	G	A	3: 84,967,545	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083		probably benign	Het
Irf2bp2	T	A	8: 126,591,255	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339		probably null	Het
Ltn1	A	T	16: 87,402,024		probably null	Het
Mafa	G	T	15: 75,747,736	P63T	unknown	Het
Myom2	A	G	8: 15,106,459	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375		probably null	Het
Six1	T	G	12: 73,045,934	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401		probably null	Het
Spryd3	A	G	15: 102,130,364	S141P	probably damaging	Het
Src	A	T	2: 157,463,038	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stc2	A	G	11: 31,365,326		probably null	Het
Taf6l	T	C	19: 8,778,208	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316	E660G	probably damaging	Het

Other mutations in Mars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Mars2	APN	1	55237996	missense	probably damaging	1.00
IGL02283:Mars2	APN	1	55238774	missense	probably damaging	0.99
IGL02379:Mars2	APN	1	55238053	missense	probably damaging	1.00
IGL02485:Mars2	APN	1	55237591	missense	possibly damaging	0.87
IGL03047:Mars2	UTSW	1	55238873	missense	probably benign
R5019:Mars2	UTSW	1	55237309	missense	possibly damaging	0.94
R7148:Mars2	UTSW	1	55237514	missense	probably damaging	1.00
R7220:Mars2	UTSW	1	55238063	missense	probably damaging	1.00
R7358:Mars2	UTSW	1	55237570	missense	probably damaging	1.00
R8035:Mars2	UTSW	1	55238297	missense	possibly damaging	0.50
R8683:Mars2	UTSW	1	55238582	missense	probably benign	0.35
R9075:Mars2	UTSW	1	55238995	missense	probably damaging	0.97
R9133:Mars2	UTSW	1	55237562	missense	possibly damaging	0.75
R9370:Mars2	UTSW	1	55237465	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GAGTAGCGGTGCAGCATTTC -3'
(R):5'- TAGATGGTCTGCGAGTCGTC -3'

Sequencing Primer
(F):5'- CAGCATTTCTGGGGTGTGC -3'
(R):5'- AGTCGTCCCCGGGAACTG -3'

Posted On

2015-09-24