Mutagenetix > Incidental Mutation

Incidental Mutation 'R0637:Gars1'

56742

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

038826-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0637 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 55046472 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

0.9594

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 94.9%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	T	9: 53,498,831 (GRCm39)	D285N	probably damaging	Het
Aldh3a1	G	A	11: 61,106,304 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,600,015 (GRCm39)	T2083A	possibly damaging	Het
Atrip	C	T	9: 108,890,241 (GRCm39)	M143I	possibly damaging	Het
Aup1	T	A	6: 83,033,842 (GRCm39)	V344D	probably damaging	Het
Baiap2	G	A	11: 119,891,405 (GRCm39)	V511M	probably benign	Het
Bnip2	T	A	9: 69,910,955 (GRCm39)		probably null	Het
Cacna1i	A	T	15: 80,256,855 (GRCm39)	Y1083F	probably damaging	Het
Cbr4	T	C	8: 61,943,740 (GRCm39)		probably benign	Het
Ces2b	C	T	8: 105,561,237 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,962,550 (GRCm39)	N769S	possibly damaging	Het
Clca3b	A	T	3: 144,533,701 (GRCm39)	V558D	probably benign	Het
Col12a1	T	C	9: 79,564,017 (GRCm39)	D1736G	probably benign	Het
Cpne8	C	A	15: 90,532,824 (GRCm39)	C61F	probably damaging	Het
Cxcr1	A	G	1: 74,231,998 (GRCm39)	I8T	probably benign	Het
D630003M21Rik	T	G	2: 158,037,327 (GRCm39)		probably benign	Het
Dcaf17	T	A	2: 70,890,763 (GRCm39)	D99E	probably damaging	Het
Fbf1	C	T	11: 116,050,880 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,773,354 (GRCm39)	H570L	possibly damaging	Het
Gm10309	A	G	17: 86,806,463 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm9892	G	A	8: 52,649,860 (GRCm39)	Q78*	probably null	Het
Has1	A	G	17: 18,064,125 (GRCm39)	Y505H	possibly damaging	Het
Hivep3	T	A	4: 119,989,738 (GRCm39)	L2063*	probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Itgb3	T	C	11: 104,549,702 (GRCm39)	V614A	probably benign	Het
Lrrc23	A	G	6: 124,755,321 (GRCm39)		probably benign	Het
Lrrc63	A	T	14: 75,335,660 (GRCm39)		probably benign	Het
Mfhas1	C	T	8: 36,057,180 (GRCm39)	R357*	probably null	Het
Mink1	C	A	11: 70,492,502 (GRCm39)	N123K	probably damaging	Het
Mtmr4	A	G	11: 87,501,890 (GRCm39)	H591R	probably benign	Het
Nav3	T	C	10: 109,606,058 (GRCm39)	T923A	probably benign	Het
Ncapg	A	G	5: 45,844,666 (GRCm39)	T554A	probably damaging	Het
Nfe2l1	T	C	11: 96,718,514 (GRCm39)	Y7C	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Obscn	A	T	11: 58,942,470 (GRCm39)	M4904K	probably damaging	Het
Obscn	G	T	11: 58,973,602 (GRCm39)	L1910I	probably damaging	Het
Or8b41	T	C	9: 38,055,178 (GRCm39)	F244S	probably benign	Het
Pcdhb15	T	A	18: 37,608,619 (GRCm39)	V617E	probably damaging	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Pgrmc1	T	C	X: 35,865,924 (GRCm39)	F160S	probably damaging	Het
Pink1	G	T	4: 138,045,357 (GRCm39)	P239Q	probably damaging	Het
Pramel25	A	T	4: 143,520,479 (GRCm39)	Y77F	probably benign	Het
Prr27	A	G	5: 87,999,005 (GRCm39)		probably benign	Het
Rbpms	G	A	8: 34,296,864 (GRCm39)	P138S	probably damaging	Het
Rcc2	T	C	4: 140,445,055 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,564,910 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	C	T	16: 72,798,839 (GRCm39)	T933M	probably benign	Het
Sinhcaf	A	G	6: 148,832,163 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,028,398 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,689,560 (GRCm39)	Y2009C	probably damaging	Het
Tnr	A	C	1: 159,677,905 (GRCm39)	T97P	possibly damaging	Het
Topaz1	T	A	9: 122,620,542 (GRCm39)	L1320*	probably null	Het
Topaz1	A	G	9: 122,626,727 (GRCm39)	M1452V	probably benign	Het
Trank1	T	G	9: 111,219,509 (GRCm39)	F2082C	probably damaging	Het
Trim24	C	A	6: 37,935,494 (GRCm39)		probably null	Het
Tspoap1	T	A	11: 87,668,066 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,126,926 (GRCm39)	L483P	probably damaging	Het
Vmn2r2	T	A	3: 64,033,999 (GRCm39)	T508S	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp366	C	A	13: 99,365,474 (GRCm39)	R212S	probably damaging	Het
Zkscan4	T	A	13: 21,665,477 (GRCm39)	C122S	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
R0762:Gars1	UTSW	6	55,054,565 (GRCm39)	splice 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'- CCCAATTCCTGAAGTTGTACTGCGT -3'
(R):5'- AGCTTGCACACTATTTGGCACTGA -3'

Sequencing Primer
(F):5'- AAGTTGTACTGCGTCTGATTCC -3'
(R):5'- cacactatttggcactgaattttg -3'

Posted On

2013-07-11