Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Gars1'

222823

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

040000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1988 (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 55054757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 688 (E688G)

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

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

AlphaFold

Q9CZD3

Predicted Effect

probably null
Transcript: ENSMUST00000003572
AA Change: E688G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: E688G

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

0.2485

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,276,081 (GRCm39)	R595*	probably null	Het
Adgrl3	A	G	5: 81,836,414 (GRCm39)	D724G	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,621,585 (GRCm39)	I404V	probably benign	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,617 (GRCm39)	V104A	probably benign	Het
Brwd1	T	C	16: 95,822,437 (GRCm39)	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,512,619 (GRCm39)		probably null	Het
Cd164	A	G	10: 41,399,177 (GRCm39)	T89A	probably benign	Het
Cep350	G	C	1: 155,808,850 (GRCm39)	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cnot1	A	G	8: 96,468,572 (GRCm39)	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,906,204 (GRCm39)	T801A	probably damaging	Het
Cntnap5b	A	C	1: 99,999,865 (GRCm39)	K208Q	possibly damaging	Het
Crx	A	T	7: 15,603,272 (GRCm39)	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,387,321 (GRCm39)	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,408,248 (GRCm39)	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,492,616 (GRCm39)	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,569 (GRCm39)	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,566,793 (GRCm39)	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,567,182 (GRCm39)	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,069,175 (GRCm39)	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,660,625 (GRCm39)	W138G	probably damaging	Het
Dop1b	T	A	16: 93,563,061 (GRCm39)	I855N	probably damaging	Het
Dsc3	T	A	18: 20,098,903 (GRCm39)	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,061,147 (GRCm39)	R510*	probably null	Het
Fat4	G	T	3: 38,941,264 (GRCm39)	M52I	probably benign	Het
Fat4	G	A	3: 39,050,239 (GRCm39)	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350 (GRCm38)	K279R	probably damaging	Het
Fsip2	G	T	2: 82,806,861 (GRCm39)	W1060L	possibly damaging	Het
G6pc1	T	A	11: 101,258,768 (GRCm39)	I49N	probably damaging	Het
Gdf11	T	C	10: 128,721,111 (GRCm39)	N361S	probably benign	Het
Gli3	A	C	13: 15,900,965 (GRCm39)	M1451L	probably benign	Het
Heatr3	T	C	8: 88,876,945 (GRCm39)	I329T	probably benign	Het
Herc3	T	G	6: 58,861,960 (GRCm39)		probably null	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Kif7	G	T	7: 79,348,989 (GRCm39)	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,072,887 (GRCm39)	V182A	possibly damaging	Het
Map3k21	T	A	8: 126,654,294 (GRCm39)	I371N	probably benign	Het
Mns1	G	A	9: 72,356,041 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,140 (GRCm39)	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,733,938 (GRCm39)	S992T	probably benign	Het
Notch4	G	A	17: 34,806,562 (GRCm39)	G1833E	possibly damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or52n2	T	C	7: 104,542,110 (GRCm39)	T242A	probably damaging	Het
Or5g29	G	A	2: 85,420,985 (GRCm39)	V34I	probably benign	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8a1b	A	T	9: 37,622,993 (GRCm39)	I194K	possibly damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,747,660 (GRCm39)	T28S	probably damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,741,530 (GRCm39)	S335P	probably damaging	Het
Prr16	C	T	18: 51,436,349 (GRCm39)	P276L	probably damaging	Het
Rilp	A	G	11: 75,401,759 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,358,682 (GRCm39)		probably null	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,415,118 (GRCm39)	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,800,241 (GRCm39)	N246D	probably damaging	Het
Suco	T	C	1: 161,646,380 (GRCm39)		probably null	Het
Tecpr1	C	T	5: 144,141,515 (GRCm39)	V785M	possibly damaging	Het
Telo2	C	T	17: 25,320,642 (GRCm39)	V756I	probably benign	Het
Tgm1	C	T	14: 55,943,034 (GRCm39)	R602H	probably benign	Het
Timeless	A	G	10: 128,080,056 (GRCm39)	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,416,325 (GRCm39)		probably null	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Trim5	A	G	7: 103,914,828 (GRCm39)	S414P	probably damaging	Het
Txnip	A	G	3: 96,467,066 (GRCm39)	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,454,050 (GRCm39)	T239S	probably damaging	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Zranb3	A	T	1: 127,887,480 (GRCm39)	N982K	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
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'- ACGGCGTGTCTCATAAAGTCG -3'
(R):5'- CTCAAGGGATGATACTTCTCTTGC -3'

Sequencing Primer
(F):5'- CATAAAGTCGATGACTCCTCTGGG -3'
(R):5'- CCAAGTGTAAAAACGAACTGCTAG -3'

Posted On

2014-08-25