Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Mars'

2237

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mars

Ensembl Gene

ENSMUSG00000040354

Gene Name

methionine-tRNA synthetase

Synonyms

methionine tRNA ligase, MetRS, methionyl-tRNA synthetase

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

127296221-127311786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127298006 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 674 (M674T)

Ref Sequence

ENSEMBL: ENSMUSP00000130666 (fasta)

Gene Model

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

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: M674T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: M674T

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

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 benign
Transcript: ENSMUST00000171564
AA Change: M674T

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: M674T

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

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Mars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4809:Mars	UTSW	10	127300215	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

Posted On

2011-12-09