Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Lars'

500806

Institutional Source

Beutler Lab

Gene Symbol

Lars

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase

Synonyms

2310045K21Rik, 3110009L02Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42202350-42262122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42212602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1003 (E1003G)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097590]

AlphaFold

Q8BMJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: E1003G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: E1003G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	19	112	5.8e-12	PFAM
Pfam:tRNA-synt_1g	48	114	3.5e-7	PFAM
low complexity region	141	157	N/A	INTRINSIC
Pfam:tRNA-synt_1	173	758	3.6e-26	PFAM
Pfam:tRNA-synt_1g	632	764	1e-9	PFAM
Pfam:tRNA-synt_1e	660	761	2.8e-7	PFAM
Pfam:Anticodon_1	796	930	3e-18	PFAM
Blast:IL1	950	1086	4e-37	BLAST

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Lars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Lars	APN	18	42229654	missense	probably damaging	0.99
IGL01340:Lars	APN	18	42202577	missense	probably benign	0.01
IGL01397:Lars	APN	18	42228029	missense	probably damaging	1.00
IGL01510:Lars	APN	18	42242109	missense	probably benign
IGL01542:Lars	APN	18	42214827	missense	probably benign	0.09
IGL01689:Lars	APN	18	42216949	missense	probably benign
IGL01819:Lars	APN	18	42202550	missense	probably benign	0.00
IGL02142:Lars	APN	18	42227280	missense	probably benign	0.01
IGL02598:Lars	APN	18	42227277	missense	possibly damaging	0.61
IGL02630:Lars	APN	18	42257169	missense	probably damaging	0.97
IGL02973:Lars	APN	18	42214759	critical splice donor site	probably null
IGL03064:Lars	APN	18	42221571	nonsense	probably null
IGL03081:Lars	APN	18	42210091	missense	probably benign	0.00
IGL03330:Lars	APN	18	42219944	missense	probably benign
IGL03334:Lars	APN	18	42221506	missense	probably benign
IGL03340:Lars	APN	18	42228650	splice site	probably benign
R0165:Lars	UTSW	18	42202697	missense	possibly damaging	0.91
R0321:Lars	UTSW	18	42202632	missense	probably damaging	0.96
R0325:Lars	UTSW	18	42250902	missense	possibly damaging	0.88
R0391:Lars	UTSW	18	42251363	missense	probably benign	0.00
R0558:Lars	UTSW	18	42214837	missense	probably benign
R0624:Lars	UTSW	18	42242784	splice site	probably benign
R0881:Lars	UTSW	18	42214786	missense	probably benign	0.22
R0968:Lars	UTSW	18	42218583	missense	probably benign	0.09
R1457:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R1466:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R1466:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R1583:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R1584:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R1851:Lars	UTSW	18	42212608	missense	probably benign	0.09
R1852:Lars	UTSW	18	42212608	missense	probably benign	0.09
R1868:Lars	UTSW	18	42214837	missense	probably benign	0.04
R1954:Lars	UTSW	18	42210050	missense	probably damaging	1.00
R2277:Lars	UTSW	18	42235502	missense	probably benign	0.00
R3732:Lars	UTSW	18	42212602	missense	probably benign	0.00
R3733:Lars	UTSW	18	42212602	missense	probably benign	0.00
R4208:Lars	UTSW	18	42229703	missense	probably benign	0.34
R4571:Lars	UTSW	18	42228230	splice site	probably null
R5009:Lars	UTSW	18	42221547	missense	probably benign	0.03
R5033:Lars	UTSW	18	42214776	missense	possibly damaging	0.92
R5152:Lars	UTSW	18	42228777	missense	possibly damaging	0.96
R5208:Lars	UTSW	18	42217557	missense	probably benign
R5219:Lars	UTSW	18	42234720	missense	probably benign	0.44
R5396:Lars	UTSW	18	42216959	missense	probably benign
R5433:Lars	UTSW	18	42251298	missense	possibly damaging	0.66
R5580:Lars	UTSW	18	42214851	missense	probably damaging	0.98
R5610:Lars	UTSW	18	42257091	missense	probably benign
R5784:Lars	UTSW	18	42219899	missense	probably benign	0.00
R6249:Lars	UTSW	18	42257206	splice site	probably null
R6334:Lars	UTSW	18	42217486	missense	probably benign
R6618:Lars	UTSW	18	42244908	missense	possibly damaging	0.86
R6900:Lars	UTSW	18	42234610	missense	probably benign
R6958:Lars	UTSW	18	42236639	missense	probably damaging	1.00
R7390:Lars	UTSW	18	42210018	critical splice donor site	probably null
R7451:Lars	UTSW	18	42202550	missense	probably benign	0.00
R7618:Lars	UTSW	18	42244891	missense	probably benign	0.10
R7831:Lars	UTSW	18	42217562	missense	probably benign	0.24
R7971:Lars	UTSW	18	42218566	missense	probably benign	0.06
R8003:Lars	UTSW	18	42221619	missense	probably damaging	1.00
R8082:Lars	UTSW	18	42244910	missense	probably damaging	0.98
R8144:Lars	UTSW	18	42218526	missense	probably damaging	0.98
R8181:Lars	UTSW	18	42228770	missense	probably damaging	0.98
R8196:Lars	UTSW	18	42210101	missense	possibly damaging	0.77
R8309:Lars	UTSW	18	42243028	missense	possibly damaging	0.54
R9039:Lars	UTSW	18	42257169	missense	probably damaging	0.97
R9101:Lars	UTSW	18	42243877	missense	probably damaging	1.00
R9306:Lars	UTSW	18	42225819	critical splice acceptor site	probably null
R9500:Lars	UTSW	18	42228661	missense	probably damaging	1.00
R9536:Lars	UTSW	18	42242981	nonsense	probably null
R9738:Lars	UTSW	18	42217584	missense	probably damaging	1.00
X0064:Lars	UTSW	18	42228060	missense	probably benign	0.05

Predicted Primers

Posted On

2017-12-01