Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Qrsl1'

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94203

Institutional Source

Beutler Lab

Gene Symbol

Qrsl1

Ensembl Gene

ENSMUSG00000019863

Gene Name

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

Synonyms

GatA, 2700038P16Rik

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43874188-43901745 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43882081 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 339 (D339N)

Ref Sequence

ENSEMBL: ENSMUSP00000020012 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020012
AA Change: D339N

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

SMART Domains

Protein: ENSMUSP00000020012
Gene: ENSMUSG00000019863
AA Change: D339N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216786

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Qrsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Qrsl1	APN	10	43876492	missense	probably damaging	1.00
IGL01724:Qrsl1	APN	10	43874608	missense	probably benign	0.01
IGL01896:Qrsl1	APN	10	43876504	missense	probably benign	0.02
IGL02192:Qrsl1	APN	10	43885014	missense	probably damaging	1.00
IGL02239:Qrsl1	APN	10	43894600	missense	possibly damaging	0.96
IGL02478:Qrsl1	APN	10	43882162	missense	probably damaging	0.97
IGL02756:Qrsl1	APN	10	43882114	missense	probably benign	0.00
IGL03386:Qrsl1	APN	10	43876550	missense	possibly damaging	0.63
R0277:Qrsl1	UTSW	10	43896007	critical splice donor site	probably null
R0323:Qrsl1	UTSW	10	43896007	critical splice donor site	probably null
R0674:Qrsl1	UTSW	10	43896001	splice site	probably benign
R1719:Qrsl1	UTSW	10	43896030	missense	probably damaging	0.97
R1743:Qrsl1	UTSW	10	43881515	missense	probably damaging	1.00
R1854:Qrsl1	UTSW	10	43894545	missense	probably damaging	1.00
R2233:Qrsl1	UTSW	10	43896096	missense	probably benign	0.00
R4176:Qrsl1	UTSW	10	43884832	missense	probably damaging	1.00
R4452:Qrsl1	UTSW	10	43882162	missense	probably damaging	1.00
R4732:Qrsl1	UTSW	10	43876663	missense	probably damaging	1.00
R4733:Qrsl1	UTSW	10	43876663	missense	probably damaging	1.00
R5626:Qrsl1	UTSW	10	43881520	missense	probably benign	0.00
R6159:Qrsl1	UTSW	10	43882193	missense	probably benign	0.00
R7563:Qrsl1	UTSW	10	43876517	missense	probably damaging	1.00
R8050:Qrsl1	UTSW	10	43874635	missense	probably damaging	0.98
R8092:Qrsl1	UTSW	10	43884753	missense	probably damaging	1.00
R8221:Qrsl1	UTSW	10	43882084	missense	possibly damaging	0.81
R8331:Qrsl1	UTSW	10	43876525	missense	probably damaging	0.98
Z1176:Qrsl1	UTSW	10	43884948	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGTGCATCCATGCATTCATCCATC -3'
(R):5'- AAGTACGGTCTCTCTGGTCCCAAG -3'

Sequencing Primer
(F):5'- catccatgcattcatccatccatAC -3'
(R):5'- AAGCTGCTGACCTCTTTGAG -3'

Posted On

2014-01-05