Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:Qars1'

434996

Institutional Source

Beutler Lab

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 #

R5548 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108385204-108393140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108390117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 348 (P348S)

Ref Sequence

ENSEMBL: ENSMUSP00000122918 (fasta)

Gene Model

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

AlphaFold

Q8BML9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006838
AA Change: P372S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: P372S

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 benign
Transcript: ENSMUST00000123316
AA Change: P203S

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115967
Gene: ENSMUSG00000032604
AA Change: P203S

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

possibly damaging
Transcript: ENSMUST00000134939
AA Change: P348S

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: P348S

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: ENSMUST00000192659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141780

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: 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: 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: ENSMUST00000208214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208102

Predicted Effect

probably benign
Transcript: ENSMUST00000208581

Predicted Effect

probably benign
Transcript: ENSMUST00000207713

Predicted Effect

probably benign
Transcript: ENSMUST00000207947

Predicted Effect

probably benign
Transcript: ENSMUST00000208162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194743

Predicted Effect

probably benign
Transcript: ENSMUST00000208962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207126

Predicted Effect

probably benign
Transcript: ENSMUST00000208074

Predicted Effect

probably benign
Transcript: ENSMUST00000207734

Predicted Effect

probably benign
Transcript: ENSMUST00000207790

Predicted Effect

probably benign
Transcript: ENSMUST00000207810

Predicted Effect

probably benign
Transcript: ENSMUST00000207180

Predicted Effect

probably benign
Transcript: ENSMUST00000208177

Predicted Effect

probably benign
Transcript: ENSMUST00000208506

Predicted Effect

probably benign
Transcript: ENSMUST00000207862

Predicted Effect

probably benign
Transcript: ENSMUST00000194045

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: 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: 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: 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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,849,863 (GRCm39)	D191G	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,740 (GRCm39)	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,599,011 (GRCm39)	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,481,527 (GRCm39)	D1141E	possibly damaging	Het
Dennd5b	T	C	6: 148,920,847 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,128,672 (GRCm39)	D1194E	probably damaging	Het
Dst	C	A	1: 34,228,409 (GRCm39)	H1676N	probably benign	Het
Eif4a3l1	T	C	6: 136,306,568 (GRCm39)	V343A	probably damaging	Het
Fitm1	A	G	14: 55,813,154 (GRCm39)	T6A	probably benign	Het
Galnt5	T	A	2: 57,904,922 (GRCm39)	V495E	probably damaging	Het
Gtf2h2	C	A	13: 100,617,544 (GRCm39)	R206L	possibly damaging	Het
Heatr5a	A	T	12: 52,005,734 (GRCm39)	Y80*	probably null	Het
Il17ra	A	G	6: 120,455,434 (GRCm39)	R348G	probably benign	Het
Mmp28	A	T	11: 83,334,733 (GRCm39)	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,038,778 (GRCm39)	T150S	probably benign	Het
Ms4a10	A	T	19: 10,945,484 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,336,998 (GRCm39)	L578P	probably damaging	Het
N4bp2l1	G	A	5: 150,496,420 (GRCm39)	R65*	probably null	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,216,505 (GRCm39)	Y770N	probably damaging	Het
Or8b3b	T	C	9: 38,584,600 (GRCm39)	I60V	probably benign	Het
Or8s5	T	A	15: 98,238,253 (GRCm39)	T206S	probably benign	Het
Pbrm1	T	A	14: 30,827,381 (GRCm39)	C1257S	probably damaging	Het
Pcdh8	T	C	14: 80,004,942 (GRCm39)	T1028A	probably damaging	Het
Pramel16	C	T	4: 143,676,550 (GRCm39)	E185K	probably benign	Het
Qrfpr	T	A	3: 36,276,075 (GRCm39)	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,399,377 (GRCm39)	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,360,630 (GRCm39)	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,254,429 (GRCm39)	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,488,355 (GRCm39)	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577 (GRCm39)	T364M	probably benign	Het
Tmem132c	T	A	5: 127,628,587 (GRCm39)	Y496*	probably null	Het
Tmem63b	A	G	17: 45,975,884 (GRCm39)	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,651,669 (GRCm39)	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,370,078 (GRCm39)	W139R	probably damaging	Het
Ubr4	C	T	4: 139,187,401 (GRCm39)	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,091,762 (GRCm39)	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 20,787,482 (GRCm39)	I76M	probably benign	Het
Wdr17	A	G	8: 55,156,886 (GRCm39)	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,287,153 (GRCm39)	A346T	probably damaging	Het
Zfp267	C	G	3: 36,219,640 (GRCm39)	H554Q	possibly damaging	Het
Zfp600	T	A	4: 146,133,019 (GRCm39)	S562R	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
R5234:Qars1	UTSW	9	108,391,364 (GRCm39)	missense	probably damaging	1.00
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'- TGTTCACATCACTCCAGGTTATAC -3'
(R):5'- AATTTGCCCTTGCGCATTGC -3'

Sequencing Primer
(F):5'- GACTATTTTGACCAGCTGTATGC -3'
(R):5'- CGCATTGCCTGAGGAGAAC -3'

Posted On

2016-10-24