Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03334:Lars'

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416965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lars

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase

Synonyms

2310045K21Rik, 3110009L02Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

42202350-42262122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42221506 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 792 (D792G)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: D792G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: D792G

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	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
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
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
X0064:Lars	UTSW	18	42228060	missense	probably benign	0.05

Posted On

2016-08-02