Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Lars'

31735

Institutional Source

Beutler Lab

Gene Symbol

Lars

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase

Synonyms

2310045K21Rik, 3110009L02Rik

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42202350-42262122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42251363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 50 (V50A)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091925

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: V50A

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

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: V50A

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

0.1088

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly 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
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
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

PCR Primer
(F):5'- CACACATTTTGAACAAGCACACGTCTA -3'
(R):5'- GCTGTCAAAAGACACGTAAACTTTGGTT -3'

Sequencing Primer
(F):5'- TATACATAAGCTGTGCAAACAAAAAC -3'
(R):5'- ctgtctatgagttgctttgcc -3'

Posted On

2013-04-24