Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01570:Qars1'

91112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Qars1

Ensembl Gene

ENSMUSG00000032604

Gene Name

glutaminyl-tRNA synthetase 1

Synonyms

1200016L19Rik, Qars, 1110018N24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01570

Quality Score

Status

Chromosome

Chromosomal Location

108385204-108393140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108388738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 266 (T266M)

Ref Sequence

ENSEMBL: ENSMUSP00000006838 (fasta)

Gene Model

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

AlphaFold

Q8BML9

Predicted Effect

probably damaging
Transcript: ENSMUST00000006838
AA Change: T266M

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

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: T266M

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

unknown
Transcript: ENSMUST00000134939
AA Change: T242M

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: T242M

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

probably benign
Transcript: ENSMUST00000207180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192065

Predicted Effect

probably benign
Transcript: ENSMUST00000207713

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144253

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

unknown
Transcript: ENSMUST00000208074
AA Change: T55M

Predicted Effect

silent
Transcript: ENSMUST00000207947

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000208962

Predicted Effect

probably benign
Transcript: ENSMUST00000207810

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Predicted Effect

probably benign
Transcript: ENSMUST00000208177

Predicted Effect

probably benign
Transcript: ENSMUST00000208506

Predicted Effect

probably benign
Transcript: ENSMUST00000207862

Predicted Effect

probably benign
Transcript: ENSMUST00000208214

Predicted Effect

probably benign
Transcript: ENSMUST00000208581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208102

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,378,748 (GRCm39)	S54P	probably damaging	Het
Adam5	A	G	8: 25,300,839 (GRCm39)	V230A	probably damaging	Het
Arid4b	T	A	13: 14,361,394 (GRCm39)		probably benign	Het
Cep250	T	G	2: 155,809,583 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,014,540 (GRCm39)	D955V	probably damaging	Het
Gm7676	A	G	8: 13,946,311 (GRCm39)		noncoding transcript	Het
Hao1	A	G	2: 134,396,120 (GRCm39)	S45P	probably damaging	Het
Hars2	A	T	18: 36,920,645 (GRCm39)	I163L	probably benign	Het
Iqgap1	T	C	7: 80,372,809 (GRCm39)	Y1510C	possibly damaging	Het
Itga4	G	A	2: 79,152,978 (GRCm39)		probably null	Het
Kif18b	G	A	11: 102,803,217 (GRCm39)	H498Y	probably benign	Het
Kin	C	T	2: 10,096,763 (GRCm39)	T204M	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,840,807 (GRCm39)	T1009I	probably benign	Het
Mad1l1	A	G	5: 140,103,032 (GRCm39)	S489P	probably benign	Het
Memo1	A	G	17: 74,524,103 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,091,633 (GRCm39)	H103L	probably benign	Het
Nhlrc2	T	A	19: 56,563,219 (GRCm39)	F273I	possibly damaging	Het
Or10g7	T	C	9: 39,905,625 (GRCm39)	I173T	probably damaging	Het
Or1e26	C	A	11: 73,480,209 (GRCm39)	M118I	probably benign	Het
Or5p4	A	T	7: 107,680,480 (GRCm39)	T160S	probably benign	Het
Pappa2	A	C	1: 158,642,110 (GRCm39)	Y1315*	probably null	Het
Pdzk1ip1	C	T	4: 114,946,214 (GRCm39)	P25S	possibly damaging	Het
Ppp2r5d	A	T	17: 46,998,843 (GRCm39)	V73D	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Slc26a2	A	C	18: 61,331,332 (GRCm39)	C700G	possibly damaging	Het
Zfp638	C	A	6: 83,924,829 (GRCm39)	A724E	probably damaging	Het

Other mutations in Qars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09