Mutagenetix > Incidental Mutation

Incidental Mutation 'R7929:Gars1'

643467

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

045976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7929 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55040102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 343 (H343R)

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

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

AlphaFold

Q9CZD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000003572
AA Change: H343R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: H343R

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

0.8782

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

95% (59/62)

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
2410137M14Rik	T	A	17: 37,289,412 (GRCm39)	I105F	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Adra1d	G	T	2: 131,403,600 (GRCm39)	C163*	probably null	Het
Ak9	A	G	10: 41,259,944 (GRCm39)	D874G		Het
Akap8	A	T	17: 32,528,419 (GRCm39)	S498T	probably damaging	Het
Alyref2	C	G	1: 171,331,407 (GRCm39)	F61L	probably benign	Het
Ank1	A	T	8: 23,606,123 (GRCm39)	I1172F	probably damaging	Het
Ankrd50	A	T	3: 38,511,258 (GRCm39)	F370I	probably damaging	Het
Apip	A	C	2: 102,913,366 (GRCm39)	T41P	probably benign	Het
Atg4d	G	A	9: 21,178,260 (GRCm39)	R126Q	probably null	Het
Ccdc86	A	G	19: 10,926,183 (GRCm39)	S139P	unknown	Het
Ceacam16	A	G	7: 19,587,556 (GRCm39)	L404P	probably damaging	Het
Dennd3	G	T	15: 73,436,423 (GRCm39)	V1010L	probably damaging	Het
Disp1	A	G	1: 182,917,103 (GRCm39)	S108P	probably benign	Het
Ecpas	A	G	4: 58,869,554 (GRCm39)	C238R	probably damaging	Het
Ephb2	A	G	4: 136,388,195 (GRCm39)	V635A	probably damaging	Het
Fkbp3	A	G	12: 65,116,812 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gli2	A	T	1: 118,769,772 (GRCm39)	N593K	possibly damaging	Het
Il18rap	T	A	1: 40,570,740 (GRCm39)	N227K	probably damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itprid1	G	A	6: 55,874,946 (GRCm39)	V299M	probably damaging	Het
Jak1	A	T	4: 101,011,842 (GRCm39)	F1087I	probably damaging	Het
Klf16	A	G	10: 80,412,698 (GRCm39)	S113P	probably benign	Het
Klhl30	A	T	1: 91,283,238 (GRCm39)	E280V	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lama4	A	G	10: 38,954,843 (GRCm39)	H1132R	probably damaging	Het
Lmtk3	A	G	7: 45,444,572 (GRCm39)	D1085G	unknown	Het
Lrrc9	C	A	12: 72,533,071 (GRCm39)	T980K	possibly damaging	Het
Nceh1	A	G	3: 27,333,396 (GRCm39)	D164G	probably benign	Het
Nlrp2	A	G	7: 5,330,498 (GRCm39)	S633P	probably damaging	Het
Nxn	A	G	11: 76,164,863 (GRCm39)	V216A	possibly damaging	Het
Odf4	A	T	11: 68,813,759 (GRCm39)	V143D	possibly damaging	Het
Or4d6	G	A	19: 12,086,118 (GRCm39)	T38I	unknown	Het
Or4p4b-ps1	T	C	2: 88,454,219 (GRCm39)	Y191H	unknown	Het
Pex12	A	G	11: 83,188,809 (GRCm39)	I62T	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plekhg1	G	A	10: 3,869,170 (GRCm39)	D237N	probably damaging	Het
Rxrb	T	A	17: 34,255,645 (GRCm39)	D377E	probably benign	Het
Ryr2	T	A	13: 11,609,680 (GRCm39)	D4382V	probably damaging	Het
Ryr2	T	A	13: 11,705,181 (GRCm39)	K2862*	probably null	Het
Ryr3	A	G	2: 112,664,533 (GRCm39)	L1606P	probably benign	Het
Samd3	A	G	10: 26,127,813 (GRCm39)	K270R	probably damaging	Het
Slc2a5	C	A	4: 150,223,942 (GRCm39)	F211L	probably benign	Het
Spata31	T	A	13: 65,069,532 (GRCm39)	V560D	probably benign	Het
Sri	T	G	5: 8,107,652 (GRCm39)		probably benign	Het
Tbk1	A	G	10: 121,393,138 (GRCm39)	C471R	probably benign	Het
Tbx20	A	T	9: 24,637,059 (GRCm39)	S343T	possibly damaging	Het
Tesk2	A	G	4: 116,659,452 (GRCm39)	E304G	probably benign	Het
Tle1	A	G	4: 72,118,239 (GRCm39)	F2L	possibly damaging	Het
Tle4	G	T	19: 14,495,244 (GRCm39)	P162T	probably benign	Het
Ttn	G	A	2: 76,673,816 (GRCm39)	P11172S	unknown	Het
Tulp1	T	C	17: 28,572,746 (GRCm39)	N470S	possibly damaging	Het
Unc13b	A	G	4: 43,174,399 (GRCm39)	I1742M	unknown	Het
Vmn2r107	T	G	17: 20,565,706 (GRCm39)	I7S	probably null	Het
Vmn2r91	T	G	17: 18,327,906 (GRCm39)	I500R	probably damaging	Het
Xpnpep3	A	G	15: 81,311,626 (GRCm39)	I111V	probably damaging	Het
Zp3r	T	A	1: 130,519,217 (GRCm39)	E308V	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
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
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'- AAACCTAACCCAGAAATCTTTGGG -3'
(R):5'- CTCAGTGCACAACCAAGCTG -3'

Sequencing Primer
(F):5'- ACCCAGAAATCTTTGGGTAATTTC -3'
(R):5'- AAGCTGCCAAGTCCTGC -3'

Posted On

2020-08-07