Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Qars1'

398223

Institutional Source

Beutler Lab

Gene Symbol

Qars1

Ensembl Gene

ENSMUSG00000032604

Gene Name

glutaminyl-tRNA synthetase 1

Synonyms

1200016L19Rik, Qars, 1110018N24Rik

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108385204-108393140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108391364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 572 (L572Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006838 (fasta)

Gene Model

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

AlphaFold

Q8BML9

Predicted Effect

probably damaging
Transcript: ENSMUST00000006838
AA Change: L572Q

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

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: L572Q

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

probably damaging
Transcript: ENSMUST00000123316
AA Change: L403Q

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

SMART Domains

Protein: ENSMUSP00000115967
Gene: ENSMUSG00000032604
AA Change: L403Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_synt_1c_R2	2	87	9.3e-25	PFAM
Pfam:tRNA-synt_1c	94	394	2.6e-115	PFAM
Pfam:tRNA-synt_1c_C	396	583	4.3e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131005

Predicted Effect

unknown
Transcript: ENSMUST00000134939
AA Change: L548Q

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: L548Q

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: ENSMUST00000137980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192659

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: 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: ENSMUST00000192932

SMART Domains

Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673

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

Predicted Effect

unknown
Transcript: ENSMUST00000194045
AA Change: L34Q

Predicted Effect

unknown
Transcript: ENSMUST00000208506
AA Change: L13Q

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000207810

Predicted Effect

probably benign
Transcript: ENSMUST00000208214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Predicted Effect

probably benign
Transcript: ENSMUST00000207713

Predicted Effect

probably benign
Transcript: ENSMUST00000207947

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

probably benign
Transcript: ENSMUST00000208581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

probably benign
Transcript: ENSMUST00000207180

Predicted Effect

probably benign
Transcript: ENSMUST00000208177

Predicted Effect

probably benign
Transcript: ENSMUST00000208962

Predicted Effect

probably benign
Transcript: ENSMUST00000207862

Predicted Effect

probably benign
Transcript: ENSMUST00000208074

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: 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: 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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,816,351 (GRCm39)	T196A	probably benign	Het
Dnajc19	T	A	3: 34,112,108 (GRCm39)	I146F	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Psmd11	A	G	11: 80,319,566 (GRCm39)	I19V	probably benign	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,014,116 (GRCm39)		probably benign	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,305,878 (GRCm39)	V515I	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
R4381:Qars1	UTSW	9	108,387,382 (GRCm39)	unclassified	probably benign
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
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'- CAGAGGCTATCAACAACTTCTGTG -3'
(R):5'- AAGGAACCTGGTGGAAACCC -3'

Sequencing Primer
(F):5'- AACAACTTCTGTGCTCGGG -3'
(R):5'- GTGGAAACCCTTGGTCTCATCAG -3'

Posted On

2016-07-06