Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Gars1'

72447

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0762 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 55054565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003572]

AlphaFold

Q9CZD3

Predicted Effect

probably null
Transcript: ENSMUST00000003572

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
WHEP-TRS	57	112	1.58e-8	SMART
Pfam:tRNA-synt_2b	281	582	2.1e-10	PFAM
Pfam:HGTP_anticodon	605	699	7.7e-24	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Gars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Gars1	APN	6	55,027,338 (GRCm39)	missense	probably damaging	1.00
IGL01084:Gars1	APN	6	55,032,812 (GRCm39)	missense	probably benign
IGL01514:Gars1	APN	6	55,042,505 (GRCm39)	missense	probably benign	0.01
IGL02104:Gars1	APN	6	55,054,682 (GRCm39)	missense	probably damaging	1.00
IGL02349:Gars1	APN	6	55,025,049 (GRCm39)	splice site	probably benign
IGL02371:Gars1	APN	6	55,042,452 (GRCm39)	missense	probably benign	0.08
IGL02932:Gars1	APN	6	55,037,929 (GRCm39)	missense	probably damaging	1.00
BB006:Gars1	UTSW	6	55,040,102 (GRCm39)	missense	probably damaging	1.00
BB016:Gars1	UTSW	6	55,040,102 (GRCm39)	missense	probably damaging	1.00
IGL02799:Gars1	UTSW	6	55,040,084 (GRCm39)	missense	probably damaging	1.00
R0637:Gars1	UTSW	6	55,046,472 (GRCm39)	critical splice donor site	probably null
R1451:Gars1	UTSW	6	55,030,108 (GRCm39)	splice site	probably benign
R1846:Gars1	UTSW	6	55,040,153 (GRCm39)	missense	probably benign	0.05
R1988:Gars1	UTSW	6	55,054,757 (GRCm39)	missense	probably null	0.00
R2033:Gars1	UTSW	6	55,054,708 (GRCm39)	missense	probably benign	0.02
R2566:Gars1	UTSW	6	55,042,548 (GRCm39)	missense	probably damaging	1.00
R4706:Gars1	UTSW	6	55,046,363 (GRCm39)	missense	probably damaging	0.99
R4854:Gars1	UTSW	6	55,023,403 (GRCm39)	missense	probably damaging	0.99
R5055:Gars1	UTSW	6	55,045,077 (GRCm39)	missense	probably damaging	1.00
R5558:Gars1	UTSW	6	55,042,592 (GRCm39)	missense	probably damaging	1.00
R6306:Gars1	UTSW	6	55,032,809 (GRCm39)	missense	probably damaging	1.00
R6821:Gars1	UTSW	6	55,056,323 (GRCm39)	missense	probably benign	0.00
R7376:Gars1	UTSW	6	55,050,344 (GRCm39)	missense	probably benign	0.00
R7505:Gars1	UTSW	6	55,029,162 (GRCm39)	missense	probably benign	0.00
R7579:Gars1	UTSW	6	55,054,688 (GRCm39)	missense	probably damaging	1.00
R7605:Gars1	UTSW	6	55,054,735 (GRCm39)	missense	probably damaging	1.00
R7728:Gars1	UTSW	6	55,027,371 (GRCm39)	missense	probably damaging	1.00
R7929:Gars1	UTSW	6	55,040,102 (GRCm39)	missense	probably damaging	1.00
R8014:Gars1	UTSW	6	55,050,392 (GRCm39)	missense	probably benign
R8391:Gars1	UTSW	6	55,025,127 (GRCm39)	missense	probably damaging	1.00
R8418:Gars1	UTSW	6	55,042,446 (GRCm39)	missense	probably damaging	0.99
R8704:Gars1	UTSW	6	55,040,215 (GRCm39)	missense	probably damaging	0.98
R9350:Gars1	UTSW	6	55,029,249 (GRCm39)	missense	probably null	0.57

Predicted Primers

PCR Primer
(F):5'- GCCCTTTACTTCTGCATGAGCAGC -3'
(R):5'- AAGGCAGTCACCTCTGCCCTTATC -3'

Sequencing Primer
(F):5'- TGCATGAGCAGCTCAGG -3'
(R):5'- GCCCTTATCTGTCTCATGGAG -3'

Posted On

2013-09-30