Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Gars1'

436397

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

MMRRC Submission

043115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5558 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55042592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 442 (S442P)

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

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

AlphaFold

Q9CZD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000003572
AA Change: S442P

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

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: S442P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,192,705 (GRCm39)	K177E	probably damaging	Het
Acvr1	T	C	2: 58,349,029 (GRCm39)	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,630,394 (GRCm39)	V779A	probably benign	Het
Alms1	C	T	6: 85,618,311 (GRCm39)	Q2786*	probably null	Het
Arhgef28	A	C	13: 98,097,968 (GRCm39)	L882R	probably damaging	Het
Cbx2	A	G	11: 118,919,775 (GRCm39)	T447A	probably benign	Het
Ch25h	A	G	19: 34,451,863 (GRCm39)	W222R	probably damaging	Het
Chsy3	T	G	18: 59,309,469 (GRCm39)	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,541,749 (GRCm39)	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,316,063 (GRCm39)	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,622,936 (GRCm39)	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,846,047 (GRCm39)	R359C	probably damaging	Het
Elavl4	C	A	4: 110,063,800 (GRCm39)	G267V	probably benign	Het
Gas6	C	T	8: 13,516,764 (GRCm39)	R578Q	probably null	Het
H4c4	C	A	13: 23,765,779 (GRCm39)	N65K	possibly damaging	Het
Ifitm6	T	C	7: 140,595,985 (GRCm39)	I103V	probably benign	Het
Igsf5	T	A	16: 96,187,731 (GRCm39)	I241N	possibly damaging	Het
Iqce	A	G	5: 140,657,560 (GRCm39)		probably null	Het
Khdc4	A	C	3: 88,600,403 (GRCm39)	H164P	probably damaging	Het
Kif20b	C	A	19: 34,928,949 (GRCm39)	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,662,093 (GRCm39)	N298D	probably benign	Het
Lca5	A	T	9: 83,283,796 (GRCm39)	S246T	probably damaging	Het
Mrps5	G	A	2: 127,444,355 (GRCm39)	G330S	probably damaging	Het
Myh15	C	T	16: 48,889,900 (GRCm39)	R164C	probably benign	Het
Myo19	C	G	11: 84,801,274 (GRCm39)	P940R	probably damaging	Het
Or10j7	T	C	1: 173,011,585 (GRCm39)	R139G	probably benign	Het
Or5b12b	T	C	19: 12,861,751 (GRCm39)	F169L	probably benign	Het
Pcdh10	A	G	3: 45,338,603 (GRCm39)	D920G	probably damaging	Het
Pgm5	A	T	19: 24,801,815 (GRCm39)		probably null	Het
Phactr4	T	C	4: 132,105,766 (GRCm39)	E137G	probably damaging	Het
Pkn1	C	T	8: 84,411,351 (GRCm39)	V239M	probably damaging	Het
Plcz1	T	A	6: 139,985,481 (GRCm39)	D20V	probably damaging	Het
Prkca	A	T	11: 107,872,473 (GRCm39)	I429N	probably damaging	Het
Ptk2	A	T	15: 73,176,294 (GRCm39)	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,280,271 (GRCm39)	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,642,003 (GRCm39)	E932V	probably damaging	Het
Rilp	A	G	11: 75,402,251 (GRCm39)	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,616,025 (GRCm39)	I474T	probably benign	Het
Slc14a2	T	A	18: 78,202,381 (GRCm39)	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,528,903 (GRCm39)	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,577,321 (GRCm39)	V326I	probably benign	Het
Slco1c1	C	T	6: 141,513,222 (GRCm39)	T617I	probably damaging	Het
Sntg1	A	G	1: 8,484,495 (GRCm39)	S442P	possibly damaging	Het
Sys1	G	T	2: 164,306,429 (GRCm39)	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmed5	A	G	5: 108,272,462 (GRCm39)	I212T	probably benign	Het
Tnks	T	C	8: 35,432,819 (GRCm39)	M1V	probably null	Het
Trpa1	T	C	1: 14,968,492 (GRCm39)	H452R	probably damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Ttn	T	A	2: 76,555,395 (GRCm39)	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,530,024 (GRCm39)	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,587,329 (GRCm39)	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,368,402 (GRCm39)	S278C	probably benign	Het
Wdpcp	G	A	11: 21,661,732 (GRCm39)	A335T	probably benign	Het
Zc3h18	G	T	8: 123,113,659 (GRCm39)	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp955b	C	T	17: 33,521,161 (GRCm39)	T210I	possibly 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
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
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'- ACAGAGTCCATCAGCCTTCAG -3'
(R):5'- GTGTTTGCTAGACGCCTGTC -3'

Sequencing Primer
(F):5'- GAGTCCATCAGCCTTCAGAAGTATTC -3'
(R):5'- TCCACTGAGGAATGGTATAGCAC -3'

Posted On

2016-10-24