Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Qars'

222353

Institutional Source

Beutler Lab

Gene Symbol

Qars

Ensembl Gene

ENSMUSG00000032604

Gene Name

glutaminyl-tRNA synthetase

Synonyms

1110018N24Rik, 1200016L19Rik

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108507706-108515941 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108515028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 136 (N136D)

Ref Sequence

ENSEMBL: ENSMUSP00000146774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006838] [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000134939] [ENSMUST00000192932] [ENSMUST00000193258] [ENSMUST00000192819] [ENSMUST00000195513] [ENSMUST00000194385] [ENSMUST00000193348] [ENSMUST00000194045] [ENSMUST00000195563] [ENSMUST00000208177] [ENSMUST00000208581] [ENSMUST00000208214] [ENSMUST00000207947] [ENSMUST00000208162] [ENSMUST00000207790] [ENSMUST00000207810] [ENSMUST00000207862]

AlphaFold

Q8BML9

Predicted Effect

probably damaging
Transcript: ENSMUST00000006838
AA Change: N716D

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

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: N716D

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

probably benign
Transcript: ENSMUST00000006851

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	597	761	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112155

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	600	760	2.3e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131005

Predicted Effect

unknown
Transcript: ENSMUST00000134939
AA Change: N692D

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: N692D

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: ENSMUST00000141780

Predicted Effect

unknown
Transcript: ENSMUST00000207180
AA Change: N131D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

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

noncoding transcript
Transcript: ENSMUST00000144253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

probably benign
Transcript: ENSMUST00000192932

SMART Domains

Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193258

SMART Domains

Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	9e-3	SMART
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192819

SMART Domains

Protein: ENSMUSP00000142027
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	1e-3	SMART
low complexity region	85	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195513

SMART Domains

Protein: ENSMUSP00000142025
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	3e-4	SMART

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: ENSMUST00000194385

SMART Domains

Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1cy5a_	9	45	8e-3	SMART
low complexity region	79	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193348

SMART Domains

Protein: ENSMUSP00000141691
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	1e-3	SMART
low complexity region	80	96	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194045

Predicted Effect

probably benign
Transcript: ENSMUST00000195563

SMART Domains

Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	9e-3	SMART
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000208506
AA Change: N157D

Predicted Effect

probably damaging
Transcript: ENSMUST00000208177
AA Change: N136D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000208581

Predicted Effect

probably benign
Transcript: ENSMUST00000208962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Predicted Effect

probably benign
Transcript: ENSMUST00000208214

Predicted Effect

probably benign
Transcript: ENSMUST00000207947

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000207810

Predicted Effect

probably benign
Transcript: ENSMUST00000207862

Predicted Effect

probably benign
Transcript: ENSMUST00000208074

Predicted Effect

probably benign
Transcript: ENSMUST00000207713

Meta Mutation Damage Score

0.7556

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377		probably benign	Het
Casp8	C	A	1: 58,828,962		probably null	Het
Cdh23	A	T	10: 60,378,751	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443	P346A	unknown	Het
Cyp2c29	A	G	19: 39,307,772		probably null	Het
Cyp3a13	T	C	5: 137,911,856	S139G	probably damaging	Het
Dapk2	A	G	9: 66,268,898	H327R	probably benign	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325	Y1944H	probably damaging	Het
Dnaic2	T	A	11: 114,732,929	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559		probably benign	Het
Gm1527	T	C	3: 28,915,835		probably null	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090		probably benign	Het
Ndor1	T	C	2: 25,255,224	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,261,214	S96P	probably damaging	Het
Ntng1	A	G	3: 109,935,010	V149A	possibly damaging	Het
Oas3	T	C	5: 120,761,835		probably benign	Het
Olfr1055	A	T	2: 86,347,142	I208N	possibly damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr1350	A	G	7: 6,570,558	D189G	probably benign	Het
Olfr1418	T	G	19: 11,855,007	Q315H	possibly damaging	Het
Olfr147	T	C	9: 38,403,735	L287P	probably damaging	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Pax2	G	A	19: 44,818,465	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692	L138Q	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290	D100V	probably damaging	Het
Rbm15b	A	G	9: 106,881,623		probably benign	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544		probably benign	Het
Smg8	T	C	11: 87,085,331	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187		probably null	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041		probably benign	Het
Usp18	A	G	6: 121,252,517	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622	H264Y	probably 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
R2172:Qars	UTSW	9	108509200	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
R9632:Qars	UTSW	9	108514383	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCGCCTCTATGAGTGCCTG -3'
(R):5'- ATAGGTGGGTCAAATTAAGCACC -3'

Sequencing Primer
(F):5'- TGCCTGTGAGTGAACATAGC -3'
(R):5'- GTGGGTCAAATTAAGCACCTGTCC -3'

Posted On

2014-08-25