Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Lars'

154472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lars

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase

Synonyms

2310045K21Rik, 3110009L02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

42202350-42262122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42202550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1167 (T1167K)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: T1167K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: T1167K

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	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
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
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

Posted On

2014-02-04