Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02973:Lars1'

365912

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lars1

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase 1

Synonyms

3110009L02Rik, 2310045K21Rik, Lars

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02973

Quality Score

Status

Chromosome

Chromosomal Location

42335363-42395259 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 42347824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

probably null
Transcript: ENSMUST00000097590

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,573,053 (GRCm39)	L193P	probably benign	Het
Ago2	A	T	15: 72,995,314 (GRCm39)		probably benign	Het
Ankrd26	A	G	6: 118,500,511 (GRCm39)	S987P	probably damaging	Het
Ap2a2	T	C	7: 141,211,277 (GRCm39)	F938L	possibly damaging	Het
Arhgap35	A	G	7: 16,296,803 (GRCm39)	V754A	possibly damaging	Het
Atp10b	A	T	11: 43,088,336 (GRCm39)	N314I	probably damaging	Het
Atp5f1a	T	C	18: 77,867,849 (GRCm39)	V291A	probably damaging	Het
Ccm2	C	A	11: 6,534,544 (GRCm39)	P19T	probably damaging	Het
Cdc5l	C	A	17: 45,715,573 (GRCm39)	A680S	probably benign	Het
Cds1	A	G	5: 101,960,376 (GRCm39)	T276A	probably damaging	Het
Cit	A	G	5: 116,144,058 (GRCm39)	R1976G	possibly damaging	Het
Col6a5	T	C	9: 105,803,020 (GRCm39)	D1315G	unknown	Het
Emilin1	T	G	5: 31,078,007 (GRCm39)	L922R	probably damaging	Het
Fank1	T	C	7: 133,478,578 (GRCm39)	L213P	probably damaging	Het
Foxc2	T	C	8: 121,844,788 (GRCm39)	S479P	probably benign	Het
Golgb1	G	A	16: 36,732,442 (GRCm39)	R563H	possibly damaging	Het
Hoxb13	A	G	11: 96,085,669 (GRCm39)	Y134C	probably damaging	Het
Krtap4-16	A	T	11: 99,742,167 (GRCm39)	C78S	possibly damaging	Het
Lipe	T	C	7: 25,083,057 (GRCm39)	N740S	probably damaging	Het
Mbd1	C	T	18: 74,408,498 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,203,721 (GRCm39)	D1700G	probably damaging	Het
Mpp7	A	G	18: 7,403,297 (GRCm39)	Y338H	probably damaging	Het
Pdgfrl	A	G	8: 41,438,631 (GRCm39)	D189G	probably damaging	Het
Pira12	T	C	7: 3,900,239 (GRCm39)	Y121C	probably damaging	Het
Plxnc1	T	C	10: 94,646,546 (GRCm39)	N1293S	probably damaging	Het
Ppm1e	C	A	11: 87,131,488 (GRCm39)	A302S	probably damaging	Het
Rassf8	A	G	6: 145,762,916 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,990,618 (GRCm39)	W52R	probably damaging	Het
Skint8	T	C	4: 111,796,790 (GRCm39)	V298A	probably benign	Het
Tulp1	A	T	17: 28,577,516 (GRCm39)		probably benign	Het
Unc5c	T	A	3: 141,494,651 (GRCm39)	D321E	probably benign	Het
Usp16	G	A	16: 87,276,627 (GRCm39)	C654Y	probably damaging	Het
Vwce	G	A	19: 10,632,764 (GRCm39)	W575*	probably null	Het
Wdr89	T	G	12: 75,679,873 (GRCm39)	D127A	probably damaging	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp942	A	G	17: 22,151,972 (GRCm39)		probably null	Het

Other mutations in Lars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Lars1	APN	18	42,362,719 (GRCm39)	missense	probably damaging	0.99
IGL01340:Lars1	APN	18	42,335,642 (GRCm39)	missense	probably benign	0.01
IGL01397:Lars1	APN	18	42,361,094 (GRCm39)	missense	probably damaging	1.00
IGL01510:Lars1	APN	18	42,375,174 (GRCm39)	missense	probably benign
IGL01542:Lars1	APN	18	42,347,892 (GRCm39)	missense	probably benign	0.09
IGL01689:Lars1	APN	18	42,350,014 (GRCm39)	missense	probably benign
IGL01819:Lars1	APN	18	42,335,615 (GRCm39)	missense	probably benign	0.00
IGL02142:Lars1	APN	18	42,360,345 (GRCm39)	missense	probably benign	0.01
IGL02598:Lars1	APN	18	42,360,342 (GRCm39)	missense	possibly damaging	0.61
IGL02630:Lars1	APN	18	42,390,234 (GRCm39)	missense	probably damaging	0.97
IGL03064:Lars1	APN	18	42,354,636 (GRCm39)	nonsense	probably null
IGL03081:Lars1	APN	18	42,343,156 (GRCm39)	missense	probably benign	0.00
IGL03330:Lars1	APN	18	42,353,009 (GRCm39)	missense	probably benign
IGL03334:Lars1	APN	18	42,354,571 (GRCm39)	missense	probably benign
IGL03340:Lars1	APN	18	42,361,715 (GRCm39)	splice site	probably benign
R0165:Lars1	UTSW	18	42,335,762 (GRCm39)	missense	possibly damaging	0.91
R0321:Lars1	UTSW	18	42,335,697 (GRCm39)	missense	probably damaging	0.96
R0325:Lars1	UTSW	18	42,383,967 (GRCm39)	missense	possibly damaging	0.88
R0391:Lars1	UTSW	18	42,384,428 (GRCm39)	missense	probably benign	0.00
R0558:Lars1	UTSW	18	42,347,902 (GRCm39)	missense	probably benign
R0624:Lars1	UTSW	18	42,375,849 (GRCm39)	splice site	probably benign
R0881:Lars1	UTSW	18	42,347,851 (GRCm39)	missense	probably benign	0.22
R0968:Lars1	UTSW	18	42,351,648 (GRCm39)	missense	probably benign	0.09
R1457:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1466:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1466:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1583:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1584:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1851:Lars1	UTSW	18	42,345,673 (GRCm39)	missense	probably benign	0.09
R1852:Lars1	UTSW	18	42,345,673 (GRCm39)	missense	probably benign	0.09
R1868:Lars1	UTSW	18	42,347,902 (GRCm39)	missense	probably benign	0.04
R1954:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R2277:Lars1	UTSW	18	42,368,567 (GRCm39)	missense	probably benign	0.00
R3732:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R3732:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R3733:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R4208:Lars1	UTSW	18	42,362,768 (GRCm39)	missense	probably benign	0.34
R4571:Lars1	UTSW	18	42,361,295 (GRCm39)	splice site	probably null
R5009:Lars1	UTSW	18	42,354,612 (GRCm39)	missense	probably benign	0.03
R5033:Lars1	UTSW	18	42,347,841 (GRCm39)	missense	possibly damaging	0.92
R5152:Lars1	UTSW	18	42,361,842 (GRCm39)	missense	possibly damaging	0.96
R5208:Lars1	UTSW	18	42,350,622 (GRCm39)	missense	probably benign
R5219:Lars1	UTSW	18	42,367,785 (GRCm39)	missense	probably benign	0.44
R5396:Lars1	UTSW	18	42,350,024 (GRCm39)	missense	probably benign
R5433:Lars1	UTSW	18	42,384,363 (GRCm39)	missense	possibly damaging	0.66
R5580:Lars1	UTSW	18	42,347,916 (GRCm39)	missense	probably damaging	0.98
R5610:Lars1	UTSW	18	42,390,156 (GRCm39)	missense	probably benign
R5784:Lars1	UTSW	18	42,352,964 (GRCm39)	missense	probably benign	0.00
R6249:Lars1	UTSW	18	42,390,271 (GRCm39)	splice site	probably null
R6334:Lars1	UTSW	18	42,350,551 (GRCm39)	missense	probably benign
R6618:Lars1	UTSW	18	42,377,973 (GRCm39)	missense	possibly damaging	0.86
R6900:Lars1	UTSW	18	42,367,675 (GRCm39)	missense	probably benign
R6958:Lars1	UTSW	18	42,369,704 (GRCm39)	missense	probably damaging	1.00
R7390:Lars1	UTSW	18	42,343,083 (GRCm39)	critical splice donor site	probably null
R7451:Lars1	UTSW	18	42,335,615 (GRCm39)	missense	probably benign	0.00
R7618:Lars1	UTSW	18	42,377,956 (GRCm39)	missense	probably benign	0.10
R7831:Lars1	UTSW	18	42,350,627 (GRCm39)	missense	probably benign	0.24
R7971:Lars1	UTSW	18	42,351,631 (GRCm39)	missense	probably benign	0.06
R8003:Lars1	UTSW	18	42,354,684 (GRCm39)	missense	probably damaging	1.00
R8082:Lars1	UTSW	18	42,377,975 (GRCm39)	missense	probably damaging	0.98
R8144:Lars1	UTSW	18	42,351,591 (GRCm39)	missense	probably damaging	0.98
R8181:Lars1	UTSW	18	42,361,835 (GRCm39)	missense	probably damaging	0.98
R8196:Lars1	UTSW	18	42,343,166 (GRCm39)	missense	possibly damaging	0.77
R8309:Lars1	UTSW	18	42,376,093 (GRCm39)	missense	possibly damaging	0.54
R9039:Lars1	UTSW	18	42,390,234 (GRCm39)	missense	probably damaging	0.97
R9101:Lars1	UTSW	18	42,376,942 (GRCm39)	missense	probably damaging	1.00
R9306:Lars1	UTSW	18	42,358,884 (GRCm39)	critical splice acceptor site	probably null
R9500:Lars1	UTSW	18	42,361,726 (GRCm39)	missense	probably damaging	1.00
R9536:Lars1	UTSW	18	42,376,046 (GRCm39)	nonsense	probably null
R9738:Lars1	UTSW	18	42,350,649 (GRCm39)	missense	probably damaging	1.00
X0064:Lars1	UTSW	18	42,361,125 (GRCm39)	missense	probably benign	0.05

Posted On

2015-12-18