Mutagenetix > Incidental Mutation

Incidental Mutation 'R2277:Lars1'

242877

Institutional Source

Beutler Lab

Gene Symbol

Lars1

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase 1

Synonyms

3110009L02Rik, 2310045K21Rik, Lars

MMRRC Submission

040276-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42335363-42395259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42368567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 425 (V425I)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000097590
AA Change: V425I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: V425I

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	T	C	19: 4,331,012 (GRCm39)	H165R	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Atxn1	T	C	13: 45,710,544 (GRCm39)	N796S	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Cdh4	C	A	2: 179,439,317 (GRCm39)	H155N	possibly damaging	Het
Cela3a	T	C	4: 137,133,187 (GRCm39)	I62V	possibly damaging	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Hdlbp	G	A	1: 93,335,900 (GRCm39)	R1199*	probably null	Het
Hook2	C	T	8: 85,729,560 (GRCm39)	Q667*	probably null	Het
Ibtk	T	C	9: 85,585,204 (GRCm39)	I1147V	probably benign	Het
Itpk1	T	C	12: 102,536,519 (GRCm39)	T376A	probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Mamld1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	X: 70,162,421 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrgprb5	A	G	7: 47,818,579 (GRCm39)	L52P	probably damaging	Het
Nlrp2	T	C	7: 5,331,128 (GRCm39)	T423A	probably benign	Het
Nphs1	T	A	7: 30,166,989 (GRCm39)	L732*	probably null	Het
Pcdhb10	T	C	18: 37,545,677 (GRCm39)	I251T	possibly damaging	Het
Plcg1	T	A	2: 160,597,725 (GRCm39)	M789K	possibly damaging	Het
Pom121l2	T	C	13: 22,168,417 (GRCm39)	I896T	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rbm28	T	C	6: 29,135,513 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Runx1t1	T	C	4: 13,771,501 (GRCm39)	V15A	probably benign	Het
Serpina10	T	A	12: 103,593,002 (GRCm39)	I291F	probably benign	Het
Slc23a2	A	G	2: 131,933,179 (GRCm39)	I93T	possibly damaging	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Sulf1	A	C	1: 12,867,018 (GRCm39)	R67S	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Top3a	A	C	11: 60,636,700 (GRCm39)	V655G	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CCAACTTCAGGTGGCAAATGG -3'
(R):5'- GGTCACAGTCCCTTCATGAG -3'

Sequencing Primer
(F):5'- CAACTTCAGGTGGCAAATGGAAAAG -3'
(R):5'- GGTCACAGTCCCTTCATGAGATAATC -3'

Posted On

2014-10-16