Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Mars1'

189816

Institutional Source

Beutler Lab

Gene Symbol

Mars1

Ensembl Gene

ENSMUSG00000040354

Gene Name

methionine-tRNA synthetase 1

Synonyms

MetRS, Mars, methionine tRNA ligase, methionyl-tRNA synthetase

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127132090-127147655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127145948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 113 (I113M)

Ref Sequence

ENSEMBL: ENSMUSP00000130666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037290] [ENSMUST00000171564]

AlphaFold

Q68FL6

Predicted Effect

probably benign
Transcript: ENSMUST00000037290
AA Change: I113M

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: I113M

Domain	Start	End	E-Value	Type
PDB:4BL7\|A	1	220	1e-118	PDB
low complexity region	221	233	N/A	INTRINSIC
Pfam:tRNA-synt_1g	268	660	6.8e-142	PFAM
WHEP-TRS	847	902	7.95e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145275

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171564
AA Change: I113M

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: I113M

Domain	Start	End	E-Value	Type
low complexity region	17	26	N/A	INTRINSIC
Pfam:GST_C	94	180	1e-6	PFAM
low complexity region	205	213	N/A	INTRINSIC
low complexity region	221	233	N/A	INTRINSIC
Pfam:tRNA-synt_1g	268	660	9.6e-149	PFAM
WHEP-TRS	855	910	7.95e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182369

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The encoded protein belongs to the class I family of tRNA synthetases, a class of enzymes that charge tRNAs with their cognate amino acids. The related human gene product is essential for the translation initiation of mRNAs. This gene has an overlapping 3' UTR tail-to-tail arrangement with an adjacent gene on the opposite strand that encodes an inhibitor of the CCAAT/enhancer-binding protein's DNA binding activity. This arrangement, conserved in human and mouse, may be involved in mRNA stability and possible functional and regulatory interaction of these adjacent overlapping genes. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	possibly damaging	Het

Other mutations in Mars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Mars1	APN	10	127,133,875 (GRCm39)	missense	probably benign	0.31
IGL00813:Mars1	APN	10	127,135,916 (GRCm39)	missense	probably damaging	1.00
IGL01292:Mars1	APN	10	127,141,387 (GRCm39)	missense	probably damaging	1.00
IGL01718:Mars1	APN	10	127,141,707 (GRCm39)	missense	possibly damaging	0.95
IGL02505:Mars1	APN	10	127,140,113 (GRCm39)	nonsense	probably null
IGL02986:Mars1	APN	10	127,133,438 (GRCm39)	missense	probably benign	0.09
menschen	UTSW	10	127,132,549 (GRCm39)	unclassified	probably benign
PIT4366001:Mars1	UTSW	10	127,135,267 (GRCm39)	missense	possibly damaging	0.72
R0149:Mars1	UTSW	10	127,135,903 (GRCm39)	missense	probably damaging	1.00
R1445:Mars1	UTSW	10	127,133,857 (GRCm39)	missense	possibly damaging	0.75
R1998:Mars1	UTSW	10	127,138,740 (GRCm39)	missense	probably benign
R1998:Mars1	UTSW	10	127,136,347 (GRCm39)	nonsense	probably null
R2089:Mars1	UTSW	10	127,135,154 (GRCm39)	missense	probably damaging	1.00
R2091:Mars1	UTSW	10	127,135,154 (GRCm39)	missense	probably damaging	1.00
R2091:Mars1	UTSW	10	127,135,154 (GRCm39)	missense	probably damaging	1.00
R4597:Mars1	UTSW	10	127,136,322 (GRCm39)	missense	probably damaging	1.00
R4809:Mars1	UTSW	10	127,136,084 (GRCm39)	missense	probably damaging	1.00
R4923:Mars1	UTSW	10	127,132,549 (GRCm39)	unclassified	probably benign
R5563:Mars1	UTSW	10	127,144,530 (GRCm39)	missense	probably benign
R5890:Mars1	UTSW	10	127,133,914 (GRCm39)	missense	probably benign	0.04
R5895:Mars1	UTSW	10	127,132,418 (GRCm39)	missense	probably benign	0.01
R5986:Mars1	UTSW	10	127,140,171 (GRCm39)	nonsense	probably null
R6300:Mars1	UTSW	10	127,132,429 (GRCm39)	missense	probably benign	0.00
R7267:Mars1	UTSW	10	127,144,455 (GRCm39)	missense	probably benign
R7544:Mars1	UTSW	10	127,147,479 (GRCm39)	missense	probably benign	0.24
R7573:Mars1	UTSW	10	127,138,679 (GRCm39)	critical splice donor site	probably null
R7740:Mars1	UTSW	10	127,136,444 (GRCm39)	missense	probably benign	0.16
R7884:Mars1	UTSW	10	127,136,114 (GRCm39)	missense	probably damaging	0.99
R8286:Mars1	UTSW	10	127,141,348 (GRCm39)	missense	probably benign	0.35
R8397:Mars1	UTSW	10	127,136,368 (GRCm39)	missense	possibly damaging	0.48
R9174:Mars1	UTSW	10	127,135,237 (GRCm39)	missense	probably damaging	1.00
R9607:Mars1	UTSW	10	127,144,493 (GRCm39)	nonsense	probably null
R9662:Mars1	UTSW	10	127,136,349 (GRCm39)	missense	probably damaging	1.00
X0027:Mars1	UTSW	10	127,144,218 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGGTCTGAATACACTTTCCCCAC -3'
(R):5'- GAGGTGCCCAAATCAGGGTGAATC -3'

Sequencing Primer
(F):5'- CAAAGTCCTGTATCATAAGCCTTC -3'
(R):5'- GTTCATCCATGAACTAGACAGATGC -3'

Posted On

2014-05-14