Mutagenetix > Incidental Mutation

Incidental Mutation 'R4381:Qars1'

325337

Institutional Source

Beutler Lab

Gene Symbol

Qars1

Ensembl Gene

ENSMUSG00000032604

Gene Name

glutaminyl-tRNA synthetase 1

Synonyms

1200016L19Rik, Qars, 1110018N24Rik

MMRRC Submission

041122-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108385204-108393140 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 108387382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006838] [ENSMUST00000134939] [ENSMUST00000194045] [ENSMUST00000207790] [ENSMUST00000207810] [ENSMUST00000208214] [ENSMUST00000208581] [ENSMUST00000207947] [ENSMUST00000208162] [ENSMUST00000208177] [ENSMUST00000207862]

AlphaFold

Q8BML9

Predicted Effect

probably benign
Transcript: ENSMUST00000006838

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604

Domain	Start	End	E-Value	Type
Pfam:tRNA_synt_1c_R1	4	162	1.2e-54	PFAM
Pfam:tRNA_synt_1c_R2	165	256	6.5e-31	PFAM
Pfam:tRNA-synt_1c	263	563	4.5e-119	PFAM
Pfam:tRNA-synt_1c_C	565	752	6.9e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131005

Predicted Effect

probably benign
Transcript: ENSMUST00000134939

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604

Domain	Start	End	E-Value	Type
Pfam:tRNA_synt_1c_R1	1	163	1.1e-55	PFAM
Pfam:tRNA_synt_1c_R2	164	256	6.9e-31	PFAM
Pfam:tRNA-synt_1c	263	563	2.5e-115	PFAM
Pfam:tRNA-synt_1c_C	565	720	5.7e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192065

Predicted Effect

probably benign
Transcript: ENSMUST00000207180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

probably benign
Transcript: ENSMUST00000207713

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

Predicted Effect

probably benign
Transcript: ENSMUST00000141903

SMART Domains

Protein: ENSMUSP00000121146
Gene: ENSMUSG00000032604

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1c	2	148	2.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194045

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000208506

Predicted Effect

probably benign
Transcript: ENSMUST00000207810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208102

Predicted Effect

probably benign
Transcript: ENSMUST00000208214

Predicted Effect

probably benign
Transcript: ENSMUST00000208581

Predicted Effect

probably benign
Transcript: ENSMUST00000207947

Predicted Effect

probably benign
Transcript: ENSMUST00000208962

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

probably benign
Transcript: ENSMUST00000208074

Predicted Effect

probably benign
Transcript: ENSMUST00000208177

Predicted Effect

probably benign
Transcript: ENSMUST00000207862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Dlgap2	A	G	8: 14,896,502 (GRCm39)	I993V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
Eml5	A	G	12: 98,782,214 (GRCm39)	I1359T	possibly damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,832,403 (GRCm39)	W1168R	probably damaging	Het
Ighv1-62-1	T	A	12: 115,350,613 (GRCm39)	H18L	probably benign	Het
Il18r1	A	G	1: 40,510,950 (GRCm39)	I12V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mib2	G	C	4: 155,742,069 (GRCm39)	A234G	possibly damaging	Het
Mtpap	T	C	18: 4,383,223 (GRCm39)	F200S	probably benign	Het
Nacad	T	A	11: 6,550,204 (GRCm39)	T996S	probably benign	Het
Nek9	T	A	12: 85,376,632 (GRCm39)	T250S	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,388,690 (GRCm39)	V310A	probably benign	Het
Or10al3	G	T	17: 38,011,790 (GRCm39)	E76D	probably damaging	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	T	C	14: 30,747,513 (GRCm39)	V33A	probably benign	Het
Pcdha4	A	G	18: 37,085,928 (GRCm39)	E37G	probably damaging	Het
Pdgfc	A	G	3: 81,116,558 (GRCm39)	K304R	probably damaging	Het
Peak1	G	T	9: 56,165,711 (GRCm39)	A739E	probably benign	Het
Pla2g4c	A	T	7: 13,079,990 (GRCm39)	N433Y	probably damaging	Het
Polrmt	A	C	10: 79,577,642 (GRCm39)	L319R	possibly damaging	Het
Prkaa1	A	T	15: 5,206,289 (GRCm39)	T373S	probably benign	Het
Ranbp1	G	A	16: 18,065,208 (GRCm39)	L33F	probably damaging	Het
Rpgrip1	C	T	14: 52,387,906 (GRCm39)	P1094L	possibly damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tstd2	T	C	4: 46,119,933 (GRCm39)	K340E	probably benign	Het
Vmn2r45	A	T	7: 8,474,912 (GRCm39)	C705*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zdhhc16	A	G	19: 41,929,093 (GRCm39)	Y232C	possibly damaging	Het
Zfp1	T	A	8: 112,397,083 (GRCm39)	L354Q	probably damaging	Het
Zyg11a	G	A	4: 108,058,517 (GRCm39)	A341V	possibly damaging	Het

Other mutations in Qars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Qars1	APN	9	108,388,738 (GRCm39)	missense	probably damaging	1.00
IGL02336:Qars1	APN	9	108,392,185 (GRCm39)	nonsense	probably null
IGL02393:Qars1	APN	9	108,391,528 (GRCm39)	missense	probably benign	0.00
IGL03102:Qars1	APN	9	108,386,118 (GRCm39)	missense	probably benign	0.35
R0576:Qars1	UTSW	9	108,392,161 (GRCm39)	intron	probably benign
R1777:Qars1	UTSW	9	108,385,400 (GRCm39)	critical splice donor site	probably null
R1824:Qars1	UTSW	9	108,391,809 (GRCm39)	missense	probably damaging	1.00
R1871:Qars1	UTSW	9	108,391,315 (GRCm39)	splice site	probably null
R1897:Qars1	UTSW	9	108,391,282 (GRCm39)	nonsense	probably null
R1952:Qars1	UTSW	9	108,390,380 (GRCm39)	missense	probably benign	0.35
R1981:Qars1	UTSW	9	108,392,227 (GRCm39)	missense	probably damaging	1.00
R2172:Qars1	UTSW	9	108,386,399 (GRCm39)	missense	probably damaging	1.00
R2698:Qars1	UTSW	9	108,385,642 (GRCm39)	missense	possibly damaging	0.65
R4608:Qars1	UTSW	9	108,386,625 (GRCm39)	splice site	probably null
R4677:Qars1	UTSW	9	108,386,889 (GRCm39)	unclassified	probably benign
R4974:Qars1	UTSW	9	108,386,130 (GRCm39)	missense	probably damaging	1.00
R5234:Qars1	UTSW	9	108,391,364 (GRCm39)	missense	probably damaging	1.00
R5548:Qars1	UTSW	9	108,390,117 (GRCm39)	missense	possibly damaging	0.72
R5817:Qars1	UTSW	9	108,387,441 (GRCm39)	unclassified	probably benign
R6029:Qars1	UTSW	9	108,390,889 (GRCm39)	missense	probably damaging	1.00
R6110:Qars1	UTSW	9	108,385,297 (GRCm39)	missense	probably benign	0.02
R6889:Qars1	UTSW	9	108,390,382 (GRCm39)	missense	probably damaging	0.98
R7034:Qars1	UTSW	9	108,391,976 (GRCm39)	missense	probably damaging	1.00
R7036:Qars1	UTSW	9	108,391,976 (GRCm39)	missense	probably damaging	1.00
R7136:Qars1	UTSW	9	108,389,971 (GRCm39)	missense	probably damaging	1.00
R7178:Qars1	UTSW	9	108,392,322 (GRCm39)	missense	possibly damaging	0.50
R7192:Qars1	UTSW	9	108,388,760 (GRCm39)	missense	probably damaging	1.00
R7235:Qars1	UTSW	9	108,387,331 (GRCm39)	missense	probably damaging	1.00
R7813:Qars1	UTSW	9	108,386,670 (GRCm39)	missense	probably damaging	1.00
R8248:Qars1	UTSW	9	108,386,651 (GRCm39)	missense	probably benign	0.00
R8558:Qars1	UTSW	9	108,392,422 (GRCm39)	missense	probably benign
R9126:Qars1	UTSW	9	108,386,399 (GRCm39)	missense	probably damaging	1.00
R9245:Qars1	UTSW	9	108,386,132 (GRCm39)	nonsense	probably null
R9632:Qars1	UTSW	9	108,391,582 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAAAGCCAGGAAGCCCTTG -3'
(R):5'- GGTCCTTCAGATAGAATGCCCAG -3'

Sequencing Primer
(F):5'- CAGGAAGCCCTTGGTTGTC -3'
(R):5'- TGTAACAGGAACCTCGGCTTC -3'

Posted On

2015-07-06