Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably essential (E-score: 0.969) 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

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]

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

Other mutations in Mars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Mars	APN	10	127298006	missense	probably benign	0.31
IGL00813:Mars	APN	10	127300047	missense	probably damaging	1.00
IGL01292:Mars	APN	10	127305518	missense	probably damaging	1.00
IGL01718:Mars	APN	10	127305838	missense	possibly damaging	0.95
IGL02505:Mars	APN	10	127304244	nonsense	probably null
IGL02986:Mars	APN	10	127297569	missense	probably benign	0.09
menschen	UTSW	10	127296680	unclassified	probably benign
PIT4366001:Mars	UTSW	10	127299398	missense	possibly damaging	0.72
R0149:Mars	UTSW	10	127300034	missense	probably damaging	1.00
R1445:Mars	UTSW	10	127297988	missense	possibly damaging	0.75
R1702:Mars	UTSW	10	127310079	missense	possibly damaging	0.52
R1998:Mars	UTSW	10	127300478	nonsense	probably null
R1998:Mars	UTSW	10	127302871	missense	probably benign
R2089:Mars	UTSW	10	127299285	missense	probably damaging	1.00
R2091:Mars	UTSW	10	127299285	missense	probably damaging	1.00
R2091:Mars	UTSW	10	127299285	missense	probably damaging	1.00
R4597:Mars	UTSW	10	127300453	missense	probably damaging	1.00
R4923:Mars	UTSW	10	127296680	unclassified	probably benign
R5563:Mars	UTSW	10	127308661	missense	probably benign
R5890:Mars	UTSW	10	127298045	missense	probably benign	0.04
R5895:Mars	UTSW	10	127296549	missense	probably benign	0.01
R5986:Mars	UTSW	10	127304302	nonsense	probably null
R6300:Mars	UTSW	10	127296560	missense	probably benign	0.00
R7267:Mars	UTSW	10	127308586	missense	probably benign
R7544:Mars	UTSW	10	127311610	missense	probably benign	0.24
R7573:Mars	UTSW	10	127302810	critical splice donor site	probably null
R7740:Mars	UTSW	10	127300575	missense	probably benign	0.16
R7884:Mars	UTSW	10	127300245	missense	probably damaging	0.99
R8286:Mars	UTSW	10	127305479	missense	probably benign	0.35
R8397:Mars	UTSW	10	127300499	missense	possibly damaging	0.48
X0027:Mars	UTSW	10	127308349	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