Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Mars1'

224581

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

040008-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127132090-127147655 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 127136347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 493 (K493*)

Ref Sequence

ENSEMBL: ENSMUSP00000130666 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000037290
AA Change: K493*

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: K493*

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

probably benign
Transcript: ENSMUST00000134778

SMART Domains

Protein: ENSMUSP00000118031
Gene: ENSMUSG00000040354

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 null
Transcript: ENSMUST00000171564
AA Change: K493*

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: K493*

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 88,118,553 (GRCm39)	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,235,393 (GRCm39)	S1114R	possibly damaging	Het
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adam22	T	C	5: 8,379,995 (GRCm39)	D101G	probably damaging	Het
Adcy9	T	C	16: 4,115,276 (GRCm39)	D705G	probably benign	Het
Adgrg3	T	G	8: 95,763,296 (GRCm39)	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Brwd1	G	A	16: 95,822,488 (GRCm39)	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Camta1	T	C	4: 151,162,337 (GRCm39)	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,709 (GRCm39)	L139M	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Dgka	C	T	10: 128,565,808 (GRCm39)	V367I	probably benign	Het
Dnajb13	A	T	7: 100,153,817 (GRCm39)	I206N	probably benign	Het
Dst	A	T	1: 34,295,428 (GRCm39)	Q5693L	probably damaging	Het
Ear6	T	A	14: 52,091,672 (GRCm39)	I73N	probably benign	Het
Egr1	A	G	18: 34,994,587 (GRCm39)	I16V	probably benign	Het
Eif2s1	T	A	12: 78,913,508 (GRCm39)	C70S	possibly damaging	Het
Epcam	T	C	17: 87,947,902 (GRCm39)	V124A	probably damaging	Het
Erbb2	T	A	11: 98,319,779 (GRCm39)	C624S	probably damaging	Het
Fam135b	T	A	15: 71,324,253 (GRCm39)	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 22,453,713 (GRCm39)	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,524,305 (GRCm39)	S127L	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Gbe1	A	T	16: 70,365,929 (GRCm39)	N702I	probably damaging	Het
Gm10643	A	T	8: 84,791,053 (GRCm39)	C20*	probably null	Het
Gpr156	A	G	16: 37,818,270 (GRCm39)	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,564,520 (GRCm39)	I333N	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,310 (GRCm39)	E176G	probably benign	Het
Iqca1l	G	A	5: 24,750,004 (GRCm39)	R680C	probably benign	Het
Jag1	T	C	2: 136,932,858 (GRCm39)	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760 (GRCm39)	E378G	probably benign	Het
Lipo4	A	G	19: 33,491,701 (GRCm39)	V94A	probably damaging	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,310,887 (GRCm39)	E350V	probably damaging	Het
Mki67	A	G	7: 135,307,499 (GRCm39)	M459T	probably benign	Het
Mlf1	G	A	3: 67,302,624 (GRCm39)	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,254,885 (GRCm39)	D294G	probably null	Het
Nlrp4e	A	C	7: 23,020,671 (GRCm39)	Y386S	probably benign	Het
Nomo1	A	G	7: 45,683,368 (GRCm39)	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,624,844 (GRCm39)	W18R	probably damaging	Het
Or11g26	T	A	14: 50,752,813 (GRCm39)	C51S	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or52e4	G	T	7: 104,706,112 (GRCm39)	V220L	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or5w16	T	C	2: 87,577,316 (GRCm39)	Y259H	probably damaging	Het
Pcnx2	A	T	8: 126,613,882 (GRCm39)	V523D	probably damaging	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,914,305 (GRCm39)	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,532,487 (GRCm39)		probably benign	Het
Rai14	C	T	15: 10,595,067 (GRCm39)		probably null	Het
Rap1gap2	A	G	11: 74,286,659 (GRCm39)	L547P	probably benign	Het
Rims3	A	T	4: 120,748,555 (GRCm39)	M259L	probably benign	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Sart3	A	C	5: 113,885,982 (GRCm39)		probably null	Het
Scn7a	C	A	2: 66,513,613 (GRCm39)	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,274,148 (GRCm39)	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,989,255 (GRCm39)	I151V	probably damaging	Het
Smarca2	A	T	19: 26,608,493 (GRCm39)	Q260L	probably benign	Het
Smco1	A	G	16: 32,092,658 (GRCm39)	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Stab1	T	A	14: 30,884,110 (GRCm39)	K219*	probably null	Het
Sulf1	G	T	1: 12,929,058 (GRCm39)	E869*	probably null	Het
Susd1	T	C	4: 59,349,925 (GRCm39)	I504V	probably benign	Het
Szt2	A	G	4: 118,232,924 (GRCm39)		probably null	Het
Tas1r3	A	T	4: 155,947,377 (GRCm39)	C103S	probably damaging	Het
Thg1l	C	A	11: 45,841,030 (GRCm39)	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,758,707 (GRCm39)	D500V	probably damaging	Het
Tmem72	A	G	6: 116,693,525 (GRCm39)	V5A	probably benign	Het
Tns4	T	G	11: 98,976,529 (GRCm39)	M131L	probably benign	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,030,601 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,491,313 (GRCm39)	D311E	possibly damaging	Het
Vtn	T	A	11: 78,390,542 (GRCm39)	V67E	probably damaging	Het
Xirp2	T	A	2: 67,339,393 (GRCm39)	F545I	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
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'- TACCTGCAGGGATACAAACAG -3'
(R):5'- AGTCCTGACTTAGCTGTGCAG -3'

Sequencing Primer
(F):5'- AACCCAAAATTTCAGGCTAAGAGG -3'
(R):5'- GTGCAGCGCCTTACTCACTG -3'

Posted On

2014-08-25