Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Lars1'

154472

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 #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

42335363-42395259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42335615 bp (GRCm39)

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
Adora2b	A	G	11: 62,156,010 (GRCm39)	N153S	possibly damaging	Het
Afm	C	T	5: 90,672,765 (GRCm39)	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,604,165 (GRCm39)	D397G	probably damaging	Het
Dnah9	A	G	11: 65,998,952 (GRCm39)	V1032A	probably benign	Het
Elovl7	T	G	13: 108,410,854 (GRCm39)	V143G	probably damaging	Het
Fhl4	T	C	10: 84,934,734 (GRCm39)	K16E	probably damaging	Het
Golga1	C	T	2: 38,924,161 (GRCm39)	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409 (GRCm39)	R628*	probably null	Het
Hectd4	A	G	5: 121,466,481 (GRCm39)	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,393,189 (GRCm39)	*149R	probably null	Het
Kcnab1	T	A	3: 65,226,875 (GRCm39)	Y185N	probably damaging	Het
Mib2	A	T	4: 155,739,715 (GRCm39)		probably null	Het
Mrps2	T	C	2: 28,358,348 (GRCm39)	V46A	probably benign	Het
Myo18b	T	C	5: 113,025,916 (GRCm39)	T45A	unknown	Het
Myo1e	C	T	9: 70,250,322 (GRCm39)		probably benign	Het
Or10ag59	A	G	2: 87,405,823 (GRCm39)	I132V	probably damaging	Het
Or4k39	T	A	2: 111,239,078 (GRCm39)	V106E	probably damaging	Het
Osbp2	A	T	11: 3,667,127 (GRCm39)	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,652,974 (GRCm39)	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,433,263 (GRCm39)	W765R	probably damaging	Het
Phf11c	T	C	14: 59,630,586 (GRCm39)	T40A	probably benign	Het
Pih1d2	T	A	9: 50,533,177 (GRCm39)	S268R	probably benign	Het
Pkd1l2	T	C	8: 117,724,913 (GRCm39)	N2333D	probably damaging	Het
Prex1	A	G	2: 166,463,165 (GRCm39)	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,463,219 (GRCm39)	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,822,763 (GRCm39)	V933F	probably damaging	Het
Sanbr	A	G	11: 23,534,561 (GRCm39)	S105P	probably benign	Het
Sphk2	A	G	7: 45,360,480 (GRCm39)		probably null	Het
Tfcp2	T	G	15: 100,402,320 (GRCm39)	E492D	probably benign	Het
Ttn	C	T	2: 76,629,106 (GRCm39)	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,628,549 (GRCm39)	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,488,556 (GRCm39)	S158I	probably benign	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
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
IGL02973:Lars1	APN	18	42,347,824 (GRCm39)	critical splice donor site	probably null
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

2014-02-04