Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Mars'

370919

Institutional Source

Beutler Lab

Gene Symbol

Mars

Ensembl Gene

ENSMUSG00000040354

Gene Name

methionine-tRNA synthetase

Synonyms

methionine tRNA ligase, MetRS, methionyl-tRNA synthetase

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127296221-127311786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127300215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 535 (T535K)

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 damaging
Transcript: ENSMUST00000037290
AA Change: T535K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: T535K

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 damaging
Transcript: ENSMUST00000171564
AA Change: T535K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: T535K

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

Meta Mutation Damage Score

0.8649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631 (GRCm38)	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856 (GRCm38)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,800,242 (GRCm38)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690 (GRCm38)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479 (GRCm38)	W200*	probably null	Het
AI661453	C	A	17: 47,467,187 (GRCm38)		probably benign	Het
Aldh1l2	A	G	10: 83,506,632 (GRCm38)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214 (GRCm38)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566 (GRCm38)	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649 (GRCm38)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214 (GRCm38)		probably benign	Het
Arhgap42	A	G	9: 9,180,117 (GRCm38)	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139 (GRCm38)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744 (GRCm38)		probably null	Het
Cabp4	T	C	19: 4,139,291 (GRCm38)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570 (GRCm38)		probably benign	Het
Chfr	C	T	5: 110,158,834 (GRCm38)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897 (GRCm38)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250 (GRCm38)	T113I	probably benign	Het
Col12a1	T	A	9: 79,693,567 (GRCm38)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,998,661 (GRCm38)	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426 (GRCm38)	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842 (GRCm38)		probably benign	Het
Cts6	A	T	13: 61,202,181 (GRCm38)	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343 (GRCm38)	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807 (GRCm38)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014 (GRCm38)		probably null	Het
Dnmt3a	A	T	12: 3,900,352 (GRCm38)	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596 (GRCm38)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621 (GRCm38)	T765S	possibly damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Fam189a1	G	A	7: 64,776,740 (GRCm38)	T159I	probably damaging	Het
Fam227b	T	A	2: 126,116,125 (GRCm38)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 109,143,390 (GRCm38)	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800 (GRCm38)		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421 (GRCm38)	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895 (GRCm38)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gjd2	C	T	2: 114,011,541 (GRCm38)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154 (GRCm38)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436 (GRCm38)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823 (GRCm38)	R40W	unknown	Het
Kif1c	C	T	11: 70,726,357 (GRCm38)	A839V	probably benign	Het
Krt31	G	A	11: 100,049,922 (GRCm38)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526 (GRCm38)	Y163C	probably damaging	Het
Mdc1	T	C	17: 35,849,101 (GRCm38)		probably null	Het
Micu1	C	T	10: 59,740,822 (GRCm38)	H167Y	probably benign	Het
Minos1	C	G	4: 139,130,957 (GRCm38)	W10S	probably damaging	Het
Mrgprb1	C	T	7: 48,447,991 (GRCm38)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762 (GRCm38)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160 (GRCm38)		probably benign	Het
Olfr1085	T	A	2: 86,657,685 (GRCm38)	M258L	possibly damaging	Het
Olfr1294	C	T	2: 111,537,611 (GRCm38)	C226Y	probably benign	Het
Olfr46	A	G	7: 140,611,074 (GRCm38)	K295E	probably damaging	Het
Olfr598	T	A	7: 103,328,523 (GRCm38)	Y12*	probably null	Het
Pex16	T	C	2: 92,376,638 (GRCm38)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081 (GRCm38)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855 (GRCm38)	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708 (GRCm38)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175 (GRCm38)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974 (GRCm38)		probably benign	Het
Rcc2	G	A	4: 140,717,042 (GRCm38)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,105,949 (GRCm38)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,101,965 (GRCm38)		probably benign	Het
Scn11a	G	T	9: 119,819,870 (GRCm38)	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173 (GRCm38)	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375 (GRCm38)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474 (GRCm38)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002 (GRCm38)	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120 (GRCm38)		probably null	Het
Stim2	T	C	5: 54,110,613 (GRCm38)	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985 (GRCm38)	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946 (GRCm38)	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930 (GRCm38)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256 (GRCm38)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021 (GRCm38)	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842 (GRCm38)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676 (GRCm38)		probably null	Het
Usp36	A	C	11: 118,263,070 (GRCm38)	L840R	probably damaging	Het
Usp50	C	A	2: 126,777,853 (GRCm38)		probably benign	Het
Vangl2	A	G	1: 172,009,663 (GRCm38)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867 (GRCm38)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745 (GRCm38)	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445 (GRCm38)	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292 (GRCm38)	E112*	probably null	Het

Other mutations in Mars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Mars	APN	10	127,298,006 (GRCm38)	missense	probably benign	0.31
IGL00813:Mars	APN	10	127,300,047 (GRCm38)	missense	probably damaging	1.00
IGL01292:Mars	APN	10	127,305,518 (GRCm38)	missense	probably damaging	1.00
IGL01718:Mars	APN	10	127,305,838 (GRCm38)	missense	possibly damaging	0.95
IGL02505:Mars	APN	10	127,304,244 (GRCm38)	nonsense	probably null
IGL02986:Mars	APN	10	127,297,569 (GRCm38)	missense	probably benign	0.09
menschen	UTSW	10	127,296,680 (GRCm38)	unclassified	probably benign
PIT4366001:Mars	UTSW	10	127,299,398 (GRCm38)	missense	possibly damaging	0.72
R0149:Mars	UTSW	10	127,300,034 (GRCm38)	missense	probably damaging	1.00
R1445:Mars	UTSW	10	127,297,988 (GRCm38)	missense	possibly damaging	0.75
R1702:Mars	UTSW	10	127,310,079 (GRCm38)	missense	possibly damaging	0.52
R1998:Mars	UTSW	10	127,302,871 (GRCm38)	missense	probably benign
R1998:Mars	UTSW	10	127,300,478 (GRCm38)	nonsense	probably null
R2089:Mars	UTSW	10	127,299,285 (GRCm38)	missense	probably damaging	1.00
R2091:Mars	UTSW	10	127,299,285 (GRCm38)	missense	probably damaging	1.00
R2091:Mars	UTSW	10	127,299,285 (GRCm38)	missense	probably damaging	1.00
R4597:Mars	UTSW	10	127,300,453 (GRCm38)	missense	probably damaging	1.00
R4923:Mars	UTSW	10	127,296,680 (GRCm38)	unclassified	probably benign
R5563:Mars	UTSW	10	127,308,661 (GRCm38)	missense	probably benign
R5890:Mars	UTSW	10	127,298,045 (GRCm38)	missense	probably benign	0.04
R5895:Mars	UTSW	10	127,296,549 (GRCm38)	missense	probably benign	0.01
R5986:Mars	UTSW	10	127,304,302 (GRCm38)	nonsense	probably null
R6300:Mars	UTSW	10	127,296,560 (GRCm38)	missense	probably benign	0.00
R7267:Mars	UTSW	10	127,308,586 (GRCm38)	missense	probably benign
R7544:Mars	UTSW	10	127,311,610 (GRCm38)	missense	probably benign	0.24
R7573:Mars	UTSW	10	127,302,810 (GRCm38)	critical splice donor site	probably null
R7740:Mars	UTSW	10	127,300,575 (GRCm38)	missense	probably benign	0.16
R7884:Mars	UTSW	10	127,300,245 (GRCm38)	missense	probably damaging	0.99
R8286:Mars	UTSW	10	127,305,479 (GRCm38)	missense	probably benign	0.35
R8397:Mars	UTSW	10	127,300,499 (GRCm38)	missense	possibly damaging	0.48
R9174:Mars	UTSW	10	127,299,368 (GRCm38)	missense	probably damaging	1.00
R9607:Mars	UTSW	10	127,308,624 (GRCm38)	nonsense	probably null
R9662:Mars	UTSW	10	127,300,480 (GRCm38)	missense	probably damaging	1.00
X0027:Mars	UTSW	10	127,308,349 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAACTGGTAAAGGTCCACC -3'
(R):5'- TCAAATGGGGAACGCCTGTG -3'

Sequencing Primer
(F):5'- TCCACCTAGGAGAAGATATTGGG -3'
(R):5'- CCCTTGGAAGGTTTTGAGGACAAG -3'

Posted On

2016-02-04