Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Gars1'

207720

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55040153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 360 (D360G)

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

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

AlphaFold

Q9CZD3

Predicted Effect

probably benign
Transcript: ENSMUST00000003572
AA Change: D360G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: D360G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203334

Meta Mutation Damage Score

0.5211

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,246,809 (GRCm39)	R63Q	probably benign	Het
Adamts20	A	T	15: 94,243,871 (GRCm39)	C619S	probably damaging	Het
Alx1	T	C	10: 102,861,165 (GRCm39)	D121G	possibly damaging	Het
Anks3	A	C	16: 4,771,748 (GRCm39)	M215R	probably benign	Het
Anxa4	T	A	6: 86,718,893 (GRCm39)		probably null	Het
Arhgef25	A	G	10: 127,021,733 (GRCm39)	V222A	probably damaging	Het
Bglap2	A	G	3: 88,285,932 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,564,674 (GRCm39)	V22A	probably benign	Het
Ccdc198	G	T	14: 49,473,420 (GRCm39)	L102I	probably damaging	Het
Cenpe	T	A	3: 134,945,606 (GRCm39)	I1040N	probably damaging	Het
Cep170	C	T	1: 176,583,335 (GRCm39)	D1015N	probably damaging	Het
Chia1	T	A	3: 106,038,181 (GRCm39)	I359N	probably damaging	Het
Crot	A	T	5: 9,038,248 (GRCm39)	V93E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnmbp	T	C	19: 43,891,186 (GRCm39)	I194V	probably damaging	Het
Dock4	T	A	12: 40,783,267 (GRCm39)	C734S	probably benign	Het
Eif4e3	T	C	6: 99,617,662 (GRCm39)	S70G	probably benign	Het
Entpd3	G	A	9: 120,387,441 (GRCm39)	D213N	probably benign	Het
Ern2	T	G	7: 121,775,759 (GRCm39)	Y445S	probably benign	Het
Fasn	A	G	11: 120,704,133 (GRCm39)	S1429P	probably benign	Het
Fat4	A	G	3: 39,036,532 (GRCm39)	I3395V	probably benign	Het
Fbln2	C	A	6: 91,233,399 (GRCm39)	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,153,845 (GRCm39)	N164D	probably benign	Het
Fez1	T	C	9: 36,779,063 (GRCm39)	S247P	probably damaging	Het
Gcfc2	A	T	6: 81,933,873 (GRCm39)	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,446,376 (GRCm39)		probably null	Het
Glp1r	A	G	17: 31,148,909 (GRCm39)		probably null	Het
Hspa14	T	C	2: 3,492,697 (GRCm39)	D356G	possibly damaging	Het
Htt	T	A	5: 35,006,288 (GRCm39)	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,704,484 (GRCm39)		probably benign	Het
Krt36	C	A	11: 99,996,374 (GRCm39)	G17C	probably damaging	Het
Lama2	T	C	10: 27,088,092 (GRCm39)	E895G	probably damaging	Het
Lamb2	G	A	9: 108,364,586 (GRCm39)	R1142H	probably benign	Het
Lhcgr	C	T	17: 89,072,575 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,532,064 (GRCm39)	T140A	probably benign	Het
Metap1	A	G	3: 138,186,443 (GRCm39)		probably benign	Het
Mpeg1	T	C	19: 12,440,486 (GRCm39)	V648A	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369 (GRCm38)	I749N	probably benign	Het
N4bp2	T	C	5: 65,965,862 (GRCm39)	F1304L	probably damaging	Het
Nup85	A	G	11: 115,459,239 (GRCm39)	E114G	probably benign	Het
Or2a5	A	G	6: 42,874,254 (GRCm39)	S290G	probably damaging	Het
Or4c10	A	G	2: 89,761,010 (GRCm39)	T286A	possibly damaging	Het
Or6b2b	A	T	1: 92,418,822 (GRCm39)	Y218*	probably null	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,052,843 (GRCm39)	C145*	probably null	Het
Plpp6	T	C	19: 28,941,680 (GRCm39)	S94P	probably benign	Het
Polr1a	T	C	6: 71,953,172 (GRCm39)	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,574,043 (GRCm39)	V860E	probably damaging	Het
Ppp1r17	A	G	6: 55,999,412 (GRCm39)	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,786,831 (GRCm39)	W133R	probably damaging	Het
Ptk7	A	G	17: 46,887,416 (GRCm39)		probably null	Het
Rad23b	C	T	4: 55,383,637 (GRCm39)	Q290*	probably null	Het
Rorb	C	T	19: 18,932,445 (GRCm39)	E369K	probably damaging	Het
Rusc1	T	C	3: 88,999,452 (GRCm39)	D110G	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Stt3a	C	T	9: 36,674,681 (GRCm39)	R34H	probably damaging	Het
Sufu	T	A	19: 46,439,386 (GRCm39)	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,540,993 (GRCm39)	R289Q	probably damaging	Het
Tph1	A	T	7: 46,309,863 (GRCm39)	S130T	probably damaging	Het
Ttn	A	G	2: 76,776,030 (GRCm39)	S1671P	probably damaging	Het
Usp4	A	G	9: 108,249,935 (GRCm39)	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,013,413 (GRCm39)	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,578,357 (GRCm39)	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,438,546 (GRCm39)	P97S	probably damaging	Het
Zbtb40	T	C	4: 136,735,150 (GRCm39)	D297G	probably benign	Het
Zfp174	C	A	16: 3,672,599 (GRCm39)	Q383K	probably benign	Het
Zfp318	T	A	17: 46,724,592 (GRCm39)	D2198E	probably benign	Het
Zfp628	C	T	7: 4,923,866 (GRCm39)	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,409,112 (GRCm39)	N1695K	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
R0762:Gars1	UTSW	6	55,054,565 (GRCm39)	splice site	probably null
R1451:Gars1	UTSW	6	55,030,108 (GRCm39)	splice site	probably benign
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'- AGAAAAGCCTGGGGTTTCG -3'
(R):5'- CAGGGTTGAAAATGCAGTTCAG -3'

Sequencing Primer
(F):5'- TCGGCCCTTTATCTAGAGGAG -3'
(R):5'- AATGCAGTTCAGGCACTTGC -3'

Posted On

2014-06-23