Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Mars1'

509047

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

044409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127132090-127147655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127132429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 856 (T856M)

Ref Sequence

ENSEMBL: ENSMUSP00000130666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000037290] [ENSMUST00000139091] [ENSMUST00000171564] [ENSMUST00000230446]

AlphaFold

Q68FL6

Predicted Effect

probably benign
Transcript: ENSMUST00000026475

SMART Domains

Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
BRLZ	94	160	1.23e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037290
AA Change: T848M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: T848M

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: ENSMUST00000134686

Predicted Effect

unknown
Transcript: ENSMUST00000134778
AA Change: T129M

SMART Domains

Protein: ENSMUSP00000118031
Gene: ENSMUSG00000040354
AA Change: T129M

Domain	Start	End	E-Value	Type
SCOP:d1f4la1	5	91	2e-10	SMART
WHEP-TRS	129	184	7.95e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139091

SMART Domains

Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
BRLZ	94	160	1.23e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145275

Predicted Effect

probably benign
Transcript: ENSMUST00000171564
AA Change: T856M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: T856M

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

probably benign
Transcript: ENSMUST00000230446

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably 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
R1702:Mars1	UTSW	10	127,145,948 (GRCm39)	missense	possibly damaging	0.52
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
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'- GCAACCTGGTTCTTGTCTGC -3'
(R):5'- AATTTGAGGCAGCGCTTTGG -3'

Sequencing Primer
(F):5'- GTCTGCCTTCTGTGCTTTCAG -3'
(R):5'- CCTGTCTTAGCTAGAAGAGTCC -3'

Posted On

2018-04-02