Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02799:Gars1'

392267

Institutional Source

Beutler Lab

Gene Symbol

Gars1

Ensembl Gene

ENSMUSG00000029777

Gene Name

glycyl-tRNA synthetase 1

Synonyms

Gena201, Sgrp23, Gars, GENA202

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02799 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

55014992-55056485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55040084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 337 (T337K)

Ref Sequence

ENSEMBL: ENSMUSP00000003572 (fasta)

Gene Model

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

AlphaFold

Q9CZD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000003572
AA Change: T337K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: T337K

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

Meta Mutation Damage Score

0.5328

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,083,234 (GRCm39)	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,739,813 (GRCm39)	Y823*	probably null	Het
Atp2c1	A	C	9: 105,290,242 (GRCm39)		probably benign	Het
Capns1	A	T	7: 29,891,644 (GRCm39)	D133E	probably benign	Het
Cast	A	G	13: 74,884,871 (GRCm39)	V361A	probably damaging	Het
Cd69	G	A	6: 129,245,223 (GRCm39)		probably benign	Het
Celsr2	T	A	3: 108,321,378 (GRCm39)	D478V	probably damaging	Het
Cenpf	T	C	1: 189,391,849 (GRCm39)	E661G	probably damaging	Het
Chrna1	A	G	2: 73,404,985 (GRCm39)		probably benign	Het
Clec5a	C	A	6: 40,554,983 (GRCm39)	V138F	probably damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Dcaf1	T	A	9: 106,735,139 (GRCm39)	S696T	probably benign	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnajc14	C	T	10: 128,642,725 (GRCm39)	P216S	possibly damaging	Het
Dst	T	C	1: 34,218,930 (GRCm39)	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,705,818 (GRCm39)	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,192,007 (GRCm39)	L188Q	probably damaging	Het
Faap100	A	G	11: 120,261,561 (GRCm39)	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,683,896 (GRCm39)	S620T	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Ggta1	A	T	2: 35,312,211 (GRCm39)	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,544,482 (GRCm39)	I343F	probably damaging	Het
Gpr12	T	A	5: 146,520,629 (GRCm39)	I98F	possibly damaging	Het
Hk2	A	G	6: 82,737,219 (GRCm39)	L3P	probably damaging	Het
Imp4	C	A	1: 34,479,258 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,720,888 (GRCm39)	V1049M	probably damaging	Het
Klhl24	T	C	16: 19,933,331 (GRCm39)	V314A	probably damaging	Het
Krt32	A	T	11: 99,978,733 (GRCm39)	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,242 (GRCm39)	Q189*	probably null	Het
Lrrc9	A	G	12: 72,553,178 (GRCm39)	E1360G	probably damaging	Het
Mdc1	G	T	17: 36,157,083 (GRCm39)	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,276,661 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,192,418 (GRCm39)		probably benign	Het
Ndufab1	A	T	7: 121,692,949 (GRCm39)		probably benign	Het
Nek3	A	G	8: 22,648,735 (GRCm39)		probably benign	Het
Ngly1	A	T	14: 16,260,636 (GRCm38)	I107L	probably benign	Het
Nkain4	A	T	2: 180,577,728 (GRCm39)		probably null	Het
Nsd2	T	A	5: 34,022,132 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,801 (GRCm39)	I303T	probably benign	Het
Or5e1	A	T	7: 108,354,830 (GRCm39)	M256L	probably benign	Het
Or5t9	A	T	2: 86,659,300 (GRCm39)	H68L	probably damaging	Het
Or7e166	T	A	9: 19,624,314 (GRCm39)	Y64N	probably damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pctp	C	A	11: 89,881,913 (GRCm39)	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,386,773 (GRCm39)	I801F	probably damaging	Het
Ptprj	A	T	2: 90,299,942 (GRCm39)	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,642,788 (GRCm39)	D670E	probably benign	Het
Racgap1	T	C	15: 99,530,628 (GRCm39)	K201E	probably benign	Het
Ranbp2	T	C	10: 58,316,086 (GRCm39)	F2269L	probably damaging	Het
Rint1	C	A	5: 24,024,478 (GRCm39)	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,680,848 (GRCm39)	P3166S	probably damaging	Het
Snap29	A	G	16: 17,240,367 (GRCm39)	N158D	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,657,473 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,209,717 (GRCm39)	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,385,426 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,309,059 (GRCm39)	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,105,487 (GRCm39)		probably benign	Het
Tcfl5	A	T	2: 180,280,419 (GRCm39)	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,164,235 (GRCm39)	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 115,939,204 (GRCm39)	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,484,699 (GRCm39)		probably benign	Het
Trbv13-2	A	G	6: 41,098,471 (GRCm39)		probably benign	Het
Tut4	T	C	4: 108,370,725 (GRCm39)	Y875H	probably benign	Het
Usp6nl	T	A	2: 6,432,360 (GRCm39)		probably benign	Het
Vmn2r62	A	G	7: 42,437,396 (GRCm39)	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,727,869 (GRCm39)	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,091,258 (GRCm39)	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,190,691 (GRCm39)	G170S	probably benign	Het
Zfyve26	T	C	12: 79,320,084 (GRCm39)	E1087G	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
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
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'- CAGCTTGTCTACTAGGCCAG -3'
(R):5'- CAGCTCCCTGAGAACCTTAC -3'

Sequencing Primer
(F):5'- CAGCTTGTCTACTAGGCCAGTTATTG -3'
(R):5'- TGAGAACCTTACCTGTTCAACAG -3'

Posted On

2016-06-09