Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Mars1'

608958

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

045936-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127132090-127147655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127136114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 525 (I525T)

Ref Sequence

ENSEMBL: ENSMUSP00000037446 (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 damaging
Transcript: ENSMUST00000037290
AA Change: I525T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: I525T

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

probably damaging
Transcript: ENSMUST00000171564
AA Change: I525T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: I525T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- TCCACCTAGGAGAAGATATTGGG -3'
(R):5'- ACCAGAGACCTCAAATGGGG -3'

Sequencing Primer
(F):5'- ATTGGGAGATTGCCTGAAACTCTCC -3'
(R):5'- CTCAAATGGGGAACGCCTGTG -3'

Posted On

2019-12-20