Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Mars'

608958

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127296221-127311786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127300245 bp (GRCm38)

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: 38,602,231	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,260,514	E1530G	possibly damaging	Het
BC005561	T	C	5: 104,521,346	S1245P	possibly damaging	Het
C3	A	G	17: 57,226,264	F113S	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Csmd1	T	C	8: 15,961,418	N2545S	probably damaging	Het
Ctsh	A	G	9: 90,061,423	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697	Y172F	probably benign	Het
Ddx52	A	G	11: 83,952,085		probably null	Het
Dmxl1	A	G	18: 49,893,407	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,791,769	L3813F	probably benign	Het
Efl1	A	G	7: 82,658,099	I68V	probably damaging	Het
Etnk2	T	C	1: 133,365,700	V127A	possibly damaging	Het
Fank1	G	C	7: 133,876,825	R206P	probably damaging	Het
Fbxw27	G	A	9: 109,789,400	R73*	probably null	Het
Fndc1	A	T	17: 7,773,197	S556T	unknown	Het
Gnb3	T	C	6: 124,837,092	T178A	probably benign	Het
H2-M10.3	A	T	17: 36,366,282	L326Q	probably benign	Het
Hist1h2bk	T	C	13: 22,036,055	S57P	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Itfg2	T	C	6: 128,416,381		probably benign	Het
Kcnma1	G	A	14: 23,336,989	P995L	probably benign	Het
Lama1	G	A	17: 67,769,435	G1068D		Het
Lats1	A	T	10: 7,697,526	K125*	probably null	Het
Lipg	C	T	18: 74,948,007	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,431,213	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,562,369	G544D		Het
Lrrc29	A	G	8: 105,315,533	I221T	probably benign	Het
Lyst	A	T	13: 13,707,683	N2853I	probably benign	Het
Miga2	T	A	2: 30,371,204	D170E	probably benign	Het
Mrpl34	T	C	8: 71,465,267	V28A	probably benign	Het
Muc16	A	T	9: 18,642,694	V4101E	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo1f	A	G	17: 33,598,296	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,189,869	T376I	probably benign	Het
Nsd1	A	G	13: 55,313,255	T2535A	probably damaging	Het
Nup98	T	A	7: 102,176,349	T428S	probably benign	Het
Omd	A	G	13: 49,590,154	M227V	probably damaging	Het
Osbpl7	A	C	11: 97,060,457	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,072,658	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,312,571	V537A	probably benign	Het
Pou2f2	T	C	7: 25,116,064	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,740,482	T640A	probably benign	Het
Ptar1	C	T	19: 23,708,794	P157S	probably benign	Het
Rapgef2	T	A	3: 79,066,626	D1471V	possibly damaging	Het
Rgs7	A	T	1: 175,149,650		probably null	Het
Rhag	A	G	17: 40,831,645	Y247C	probably benign	Het
Sardh	A	G	2: 27,239,371	I305T	probably damaging	Het
Scn11a	A	G	9: 119,804,551	I372T	probably benign	Het
Scn3a	G	T	2: 65,536,515	D54E	probably damaging	Het
Senp2	A	G	16: 22,014,231	T90A	probably benign	Het
Serpinh1	C	T	7: 99,349,288	R45H	probably benign	Het
Siglecg	T	C	7: 43,409,279	V152A	probably benign	Het
Sipa1l2	T	A	8: 125,447,598	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,625,949	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,442,509	L133Q	probably damaging	Het
Slc6a16	A	G	7: 45,259,347	E117G	probably damaging	Het
Tmem235	G	A	11: 117,864,207	V162M	probably benign	Het
Trank1	A	G	9: 111,392,516	T2774A	probably benign	Het
Trav10n	A	T	14: 53,122,130	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,033,247	W55*	probably null	Het
Zfp654	G	T	16: 64,851,648	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	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
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
R8286:Mars	UTSW	10	127305479	missense	probably benign	0.35
R8397:Mars	UTSW	10	127300499	missense	possibly damaging	0.48
R9174:Mars	UTSW	10	127299368	missense	probably damaging	1.00
R9607:Mars	UTSW	10	127308624	nonsense	probably null
R9662:Mars	UTSW	10	127300480	missense	probably damaging	1.00
X0027:Mars	UTSW	10	127308349	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