Mutagenetix > Incidental Mutation

Incidental Mutation 'R6900:Lars1'

538505

Institutional Source

Beutler Lab

Gene Symbol

Lars1

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase 1

Synonyms

3110009L02Rik, 2310045K21Rik, Lars

MMRRC Submission

044994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42335363-42395259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42367675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 468 (K468E)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: K468E

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

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: K468E

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (32/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	T	C	8: 78,037,491 (GRCm39)	D579G	probably damaging	Het
Cc2d2b	A	G	19: 40,813,518 (GRCm39)	S1333G	probably null	Het
Cep250	A	G	2: 155,838,190 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,245,271 (GRCm39)	D1149G	possibly damaging	Het
Dnah7a	A	G	1: 53,701,510 (GRCm39)	L215P	probably damaging	Het
Fbn2	T	C	18: 58,209,903 (GRCm39)	M993V	probably benign	Het
Ggt5	A	T	10: 75,446,371 (GRCm39)	Q523L	possibly damaging	Het
Hcn1	A	G	13: 117,793,363 (GRCm39)	N205S	probably benign	Het
Htr1b	A	T	9: 81,513,623 (GRCm39)	I328N	probably damaging	Het
Itgav	T	A	2: 83,633,591 (GRCm39)	F980Y	probably damaging	Het
Kbtbd2	A	G	6: 56,757,008 (GRCm39)	S243P	probably damaging	Het
Kcnd2	A	G	6: 21,216,587 (GRCm39)	N97S	probably damaging	Het
Kifbp	T	C	10: 62,394,908 (GRCm39)	Y578C	probably damaging	Het
Map3k1	T	C	13: 111,890,350 (GRCm39)	N1283S	probably benign	Het
Mapk8ip3	A	T	17: 25,128,097 (GRCm39)		probably null	Het
Mroh2b	A	G	15: 4,938,469 (GRCm39)	I253V	probably benign	Het
Nup98	A	G	7: 101,835,169 (GRCm39)	F228S	probably damaging	Het
Or4k1	A	T	14: 50,377,295 (GRCm39)	V267E	possibly damaging	Het
Pdzd2	A	G	15: 12,374,123 (GRCm39)	F2004S	probably benign	Het
Pkhd1	A	T	1: 20,604,925 (GRCm39)	L1130Q	probably benign	Het
Pparg	G	T	6: 115,449,949 (GRCm39)	R286L	possibly damaging	Het
Ppp1r16a	A	G	15: 76,575,923 (GRCm39)	S96G	probably damaging	Het
Psg29	C	T	7: 16,938,857 (GRCm39)	Q44*	probably null	Het
Rgs22	A	G	15: 36,010,893 (GRCm39)	F1227S	possibly damaging	Het
Saxo1	T	C	4: 86,363,571 (GRCm39)	D304G	possibly damaging	Het
Sec14l1	T	C	11: 117,008,049 (GRCm39)	Y12H	probably damaging	Het
Sh3bp4	A	G	1: 89,073,489 (GRCm39)	N779S	probably benign	Het
Sin3a	T	C	9: 57,014,858 (GRCm39)	V693A	probably damaging	Het
Teddm1b	G	A	1: 153,750,956 (GRCm39)	C255Y	probably benign	Het
Ttk	T	A	9: 83,754,083 (GRCm39)	S819T	probably damaging	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAACCAAGTCTATTCCACTCAGTC -3'
(R):5'- AGGTGACTTTGCAGACCATCAG -3'

Sequencing Primer
(F):5'- AGTCTTCTCCATTCAACCTGTTACAG -3'
(R):5'- CCATCAGTGGCAAAGGGACC -3'

Posted On

2018-11-06