Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Qars'

237566

Institutional Source

Beutler Lab

Gene Symbol

Qars

Ensembl Gene

ENSMUSG00000032604

Gene Name

glutaminyl-tRNA synthetase

Synonyms

1110018N24Rik, 1200016L19Rik

MMRRC Submission

040174-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108507706-108515941 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108509200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 143 (R143C)

Ref Sequence

ENSEMBL: ENSMUSP00000146941 (fasta)

Gene Model

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

AlphaFold

Q8BML9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006838
AA Change: R143C

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: R143C

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

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: R143C

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: ENSMUST00000137980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141780

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

noncoding transcript
Transcript: ENSMUST00000144253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192659

Predicted Effect

probably benign
Transcript: ENSMUST00000194045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

Predicted Effect

probably damaging
Transcript: ENSMUST00000207947
AA Change: R143C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000207862
AA Change: R131C

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208581
AA Change: R143C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000208074

Predicted Effect

probably benign
Transcript: ENSMUST00000208214

Predicted Effect

probably benign
Transcript: ENSMUST00000208506

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Predicted Effect

probably benign
Transcript: ENSMUST00000208177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208102

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm10696	T	G	3: 94,176,298	K69Q	possibly damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Nprl3	T	A	11: 32,234,894	M372L	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Otud7b	T	G	3: 96,153,520		probably null	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srebf1	T	C	11: 60,206,502	T171A	probably benign	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Urb2	A	G	8: 124,031,102	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	possibly damaging	Het

Other mutations in Qars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Qars	APN	9	108511539	missense	probably damaging	1.00
IGL02336:Qars	APN	9	108514986	nonsense	probably null
IGL02393:Qars	APN	9	108514329	missense	probably benign	0.00
IGL03102:Qars	APN	9	108508919	missense	probably benign	0.35
R0576:Qars	UTSW	9	108514962	intron	probably benign
R1777:Qars	UTSW	9	108508201	critical splice donor site	probably null
R1824:Qars	UTSW	9	108514610	missense	probably damaging	1.00
R1871:Qars	UTSW	9	108514116	splice site	probably null
R1897:Qars	UTSW	9	108514083	nonsense	probably null
R1952:Qars	UTSW	9	108513181	missense	probably benign	0.35
R1981:Qars	UTSW	9	108515028	missense	probably damaging	1.00
R2698:Qars	UTSW	9	108508443	missense	possibly damaging	0.65
R4381:Qars	UTSW	9	108510183	unclassified	probably benign
R4608:Qars	UTSW	9	108509426	splice site	probably null
R4677:Qars	UTSW	9	108509690	unclassified	probably benign
R4974:Qars	UTSW	9	108508931	missense	probably damaging	1.00
R5234:Qars	UTSW	9	108514165	missense	probably damaging	1.00
R5548:Qars	UTSW	9	108512918	missense	possibly damaging	0.72
R5817:Qars	UTSW	9	108510242	unclassified	probably benign
R6029:Qars	UTSW	9	108513690	missense	probably damaging	1.00
R6110:Qars	UTSW	9	108508098	missense	probably benign	0.02
R6889:Qars	UTSW	9	108513183	missense	probably damaging	0.98
R7034:Qars	UTSW	9	108514777	missense	probably damaging	1.00
R7036:Qars	UTSW	9	108514777	missense	probably damaging	1.00
R7136:Qars	UTSW	9	108512772	missense	probably damaging	1.00
R7178:Qars	UTSW	9	108515123	missense	possibly damaging	0.50
R7192:Qars	UTSW	9	108511561	missense	probably damaging	1.00
R7235:Qars	UTSW	9	108510132	missense	probably damaging	1.00
R7813:Qars	UTSW	9	108509471	missense	probably damaging	1.00
R8248:Qars	UTSW	9	108509452	missense	probably benign	0.00
R8558:Qars	UTSW	9	108515223	missense	probably benign
R9126:Qars	UTSW	9	108509200	missense	probably damaging	1.00
R9245:Qars	UTSW	9	108508933	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAGCTGTAAGTCCTCTCC -3'
(R):5'- TCAAAGAAGGCCCAGCTGAC -3'

Sequencing Primer
(F):5'- AGGCATCAGATATCTCCTCCTAG -3'
(R):5'- AGCTGACTCAGGACCAGGAC -3'

Posted On

2014-10-02