Mutagenetix > Incidental Mutation

Incidental Mutation 'R4176:Qrsl1'

319519

Institutional Source

Beutler Lab

Gene Symbol

Qrsl1

Ensembl Gene

ENSMUSG00000019863

Gene Name

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1

Synonyms

2700038P16Rik, GatA

MMRRC Submission

041014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43750184-43777741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43760828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 252 (S252T)

Ref Sequence

ENSEMBL: ENSMUSP00000020012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020012]

AlphaFold

Q9CZN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020012
AA Change: S252T

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

SMART Domains

Protein: ENSMUSP00000020012
Gene: ENSMUSG00000019863
AA Change: S252T

Domain	Start	End	E-Value	Type
Pfam:Amidase	22	484	6e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217541

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,000 (GRCm39)	E1274G	possibly damaging	Het
Abi3bp	A	G	16: 56,472,563 (GRCm39)	E424G	probably damaging	Het
Ankrd10	A	G	8: 11,662,644 (GRCm39)	I363T	probably benign	Het
Ankrd12	A	T	17: 66,334,361 (GRCm39)	N204K	probably damaging	Het
Brca2	C	A	5: 150,463,098 (GRCm39)	S954*	probably null	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Dagla	G	T	19: 10,240,461 (GRCm39)	D256E	probably damaging	Het
Dsg2	T	A	18: 20,713,720 (GRCm39)	F230L	probably benign	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Emilin2	A	T	17: 71,581,258 (GRCm39)	D489E	probably benign	Het
Entrep3	T	C	3: 89,091,754 (GRCm39)	V87A	probably damaging	Het
Ermp1	A	G	19: 29,623,365 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,794,321 (GRCm39)	Y614H	probably benign	Het
Fnbp1	T	C	2: 30,926,131 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,241,061 (GRCm39)	F13S	probably benign	Het
Hydin	G	A	8: 111,320,452 (GRCm39)	A4499T	probably benign	Het
Islr2	A	T	9: 58,107,183 (GRCm39)	C26S	probably damaging	Het
Jup	T	A	11: 100,263,287 (GRCm39)	D696V	probably benign	Het
Kcnq5	A	C	1: 21,605,392 (GRCm39)	V171G	probably damaging	Het
Kntc1	T	G	5: 123,914,680 (GRCm39)	S667A	possibly damaging	Het
Loxhd1	A	G	18: 77,418,755 (GRCm39)	T293A	possibly damaging	Het
Lrp1b	C	A	2: 41,298,405 (GRCm39)	C138F	probably damaging	Het
Lrrc37	T	A	11: 103,427,426 (GRCm39)	H1388L	unknown	Het
Mctp2	A	G	7: 71,909,085 (GRCm39)	I76T	probably benign	Het
Or2z8	A	G	8: 72,812,028 (GRCm39)	Y168C	probably damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Pbx1	A	G	1: 168,018,841 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,693 (GRCm39)	W410R	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pkd1	T	C	17: 24,806,971 (GRCm39)	L3482P	probably benign	Het
Plekhn1	C	T	4: 156,306,258 (GRCm39)	G604E	probably benign	Het
Ptpn22	A	G	3: 103,793,561 (GRCm39)	T571A	probably benign	Het
Rab3gap2	T	A	1: 184,978,863 (GRCm39)	M280K	probably damaging	Het
Serpinh1	T	C	7: 98,996,206 (GRCm39)	M293V	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a8	T	A	17: 28,866,973 (GRCm39)	E585D	probably benign	Het
Slc34a2	T	G	5: 53,224,910 (GRCm39)	C350W	probably damaging	Het
Slit2	T	A	5: 48,394,586 (GRCm39)		probably null	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Trpm7	T	C	2: 126,671,083 (GRCm39)	K633R	possibly damaging	Het
Usp38	A	C	8: 81,719,928 (GRCm39)	S434A	probably benign	Het
Zbtb16	A	G	9: 48,571,101 (GRCm39)	F555S	probably damaging	Het
Zfp141	A	T	7: 42,125,705 (GRCm39)	S256T	probably benign	Het

Other mutations in Qrsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Qrsl1	APN	10	43,752,488 (GRCm39)	missense	probably damaging	1.00
IGL01724:Qrsl1	APN	10	43,750,604 (GRCm39)	missense	probably benign	0.01
IGL01896:Qrsl1	APN	10	43,752,500 (GRCm39)	missense	probably benign	0.02
IGL02192:Qrsl1	APN	10	43,761,010 (GRCm39)	missense	probably damaging	1.00
IGL02239:Qrsl1	APN	10	43,770,596 (GRCm39)	missense	possibly damaging	0.96
IGL02478:Qrsl1	APN	10	43,758,158 (GRCm39)	missense	probably damaging	0.97
IGL02756:Qrsl1	APN	10	43,758,110 (GRCm39)	missense	probably benign	0.00
IGL03386:Qrsl1	APN	10	43,752,546 (GRCm39)	missense	possibly damaging	0.63
R0277:Qrsl1	UTSW	10	43,772,003 (GRCm39)	critical splice donor site	probably null
R0323:Qrsl1	UTSW	10	43,772,003 (GRCm39)	critical splice donor site	probably null
R0674:Qrsl1	UTSW	10	43,771,997 (GRCm39)	splice site	probably benign
R1054:Qrsl1	UTSW	10	43,758,077 (GRCm39)	missense	probably damaging	1.00
R1719:Qrsl1	UTSW	10	43,772,026 (GRCm39)	missense	probably damaging	0.97
R1743:Qrsl1	UTSW	10	43,757,511 (GRCm39)	missense	probably damaging	1.00
R1854:Qrsl1	UTSW	10	43,770,541 (GRCm39)	missense	probably damaging	1.00
R2233:Qrsl1	UTSW	10	43,772,092 (GRCm39)	missense	probably benign	0.00
R4452:Qrsl1	UTSW	10	43,758,158 (GRCm39)	missense	probably damaging	1.00
R4732:Qrsl1	UTSW	10	43,752,659 (GRCm39)	missense	probably damaging	1.00
R4733:Qrsl1	UTSW	10	43,752,659 (GRCm39)	missense	probably damaging	1.00
R5626:Qrsl1	UTSW	10	43,757,516 (GRCm39)	missense	probably benign	0.00
R6159:Qrsl1	UTSW	10	43,758,189 (GRCm39)	missense	probably benign	0.00
R7563:Qrsl1	UTSW	10	43,752,513 (GRCm39)	missense	probably damaging	1.00
R8050:Qrsl1	UTSW	10	43,750,631 (GRCm39)	missense	probably damaging	0.98
R8092:Qrsl1	UTSW	10	43,760,749 (GRCm39)	missense	probably damaging	1.00
R8221:Qrsl1	UTSW	10	43,758,080 (GRCm39)	missense	possibly damaging	0.81
R8331:Qrsl1	UTSW	10	43,752,521 (GRCm39)	missense	probably damaging	0.98
Z1176:Qrsl1	UTSW	10	43,760,944 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCCAAGGAAAGTCTACAGAGCC -3'
(R):5'- TGGTGAATTCAATGGACGTGCC -3'

Sequencing Primer
(F):5'- AGTCTACAGAGCCTTGCTTTATAGG -3'
(R):5'- CAGGAATCCTCACCAGATGTGTG -3'

Posted On

2015-06-10