Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Gars1'

161657

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

039506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1451 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 55030108 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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205258

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

96% (55/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,098,588 (GRCm39)	E83G	possibly damaging	Het
Abca9	A	G	11: 110,018,273 (GRCm39)	S1116P	probably damaging	Het
Abcc12	T	A	8: 87,284,322 (GRCm39)	T296S	probably damaging	Het
Adarb2	A	G	13: 8,389,657 (GRCm39)		probably benign	Het
Arhgef12	C	T	9: 42,903,874 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,498,600 (GRCm39)	Q431L	probably benign	Het
C1s2	A	T	6: 124,602,453 (GRCm39)	I580N	probably benign	Het
Cacna2d4	C	T	6: 119,213,785 (GRCm39)	T68I	probably benign	Het
Car8	A	T	4: 8,189,327 (GRCm39)	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,062,527 (GRCm39)	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,376 (GRCm39)	N965K	probably benign	Het
Cd200r3	A	G	16: 44,771,910 (GRCm39)	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,076,830 (GRCm39)	S121C	probably null	Het
Cog6	T	C	3: 52,916,534 (GRCm39)	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,478,269 (GRCm39)		probably null	Het
Epha1	C	A	6: 42,338,385 (GRCm39)	M730I	probably damaging	Het
Fcgbpl1	T	C	7: 27,836,582 (GRCm39)	F167S	probably damaging	Het
Fscn2	A	T	11: 120,252,848 (GRCm39)	E105V	probably damaging	Het
Itgb4	G	T	11: 115,881,710 (GRCm39)	G753V	probably damaging	Het
Kif23	C	T	9: 61,832,084 (GRCm39)	V634M	probably damaging	Het
Krt8	T	C	15: 101,907,264 (GRCm39)	Y273C	possibly damaging	Het
Lgmn	A	G	12: 102,372,151 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,845,926 (GRCm39)	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,038,376 (GRCm39)		probably benign	Het
Lta4h	A	G	10: 93,316,590 (GRCm39)	D491G	probably damaging	Het
Megf10	A	T	18: 57,385,931 (GRCm39)	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,905,878 (GRCm39)	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,427,490 (GRCm39)	D38G	possibly damaging	Het
Or1j11	G	T	2: 36,311,877 (GRCm39)	A156S	probably benign	Het
Or2w2	A	T	13: 21,758,457 (GRCm39)	Y56*	probably null	Het
Or2z2	C	T	11: 58,346,358 (GRCm39)	R139H	probably benign	Het
Or6b3	T	A	1: 92,439,517 (GRCm39)	I78F	possibly damaging	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Or8g50	T	A	9: 39,648,612 (GRCm39)	V167D	probably benign	Het
Pcdhb17	A	T	18: 37,619,989 (GRCm39)	D593V	probably damaging	Het
Pde2a	G	T	7: 101,071,198 (GRCm39)	E23*	probably null	Het
Prex2	G	A	1: 11,226,483 (GRCm39)	V749I	probably benign	Het
Ptchd4	A	G	17: 42,813,809 (GRCm39)	Y570C	probably damaging	Het
Robo3	C	T	9: 37,329,007 (GRCm39)	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,284,756 (GRCm39)	Y87*	probably null	Het
Snx13	G	A	12: 35,128,983 (GRCm39)	A34T	probably benign	Het
Sppl3	T	C	5: 115,226,424 (GRCm39)	L193P	probably damaging	Het
Tia1	A	T	6: 86,407,321 (GRCm39)	Y277F	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc2l	T	C	8: 123,342,134 (GRCm39)	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,838,663 (GRCm39)	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,747,007 (GRCm39)	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,628,275 (GRCm39)	C155*	probably null	Het
Vmn2r8	T	A	5: 108,945,933 (GRCm39)	D558V	probably damaging	Het
Vps13a	T	C	19: 16,688,228 (GRCm39)	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628 (GRCm39)	N522S	possibly damaging	Het
Zfp180	T	C	7: 23,804,643 (GRCm39)	F354S	probably benign	Het
Zgpat	A	G	2: 181,021,984 (GRCm39)		probably benign	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
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'- TCCCTGCGAAAGTGTCAGTGAAC -3'
(R):5'- TGCATTTTGCTCAGGCAGAACTCC -3'

Sequencing Primer
(F):5'- agcactggctgctctttc -3'
(R):5'- CAGAACTCCAGACAGGCGTG -3'

Posted On

2014-03-14