Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Lars'

177395

Institutional Source

Beutler Lab

Gene Symbol

Lars

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase

Synonyms

2310045K21Rik, 3110009L02Rik

MMRRC Submission

039621-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42202350-42262122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42210050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1101 (R1101C)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

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

AlphaFold

Q8BMJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000097590
AA Change: R1101C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: R1101C

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

Meta Mutation Damage Score

0.7391

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410 (GRCm38)	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718 (GRCm38)	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049 (GRCm38)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337 (GRCm38)		probably null	Het
Arrdc1	T	C	2: 24,925,795 (GRCm38)	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065 (GRCm38)	Y2250H	probably damaging	Het
BC005561	T	A	5: 104,518,257 (GRCm38)	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258 (GRCm38)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382 (GRCm38)		probably benign	Het
C8g	C	T	2: 25,500,216 (GRCm38)	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977 (GRCm38)		probably null	Het
Cilp	G	A	9: 65,279,715 (GRCm38)	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477 (GRCm38)	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315 (GRCm38)		probably benign	Het
Cntnap1	C	A	11: 101,180,360 (GRCm38)	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790 (GRCm38)		probably null	Het
Ctdspl2	G	A	2: 122,003,929 (GRCm38)	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328 (GRCm38)	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172 (GRCm38)	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728 (GRCm38)	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047 (GRCm38)	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448 (GRCm38)	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047 (GRCm38)		probably null	Het
Fam20b	T	C	1: 156,686,188 (GRCm38)		probably benign	Het
Fbln7	A	G	2: 128,877,429 (GRCm38)	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539 (GRCm38)	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511 (GRCm38)	I206V	probably benign	Het
Figla	A	G	6: 86,020,782 (GRCm38)	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282 (GRCm38)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm38)	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764 (GRCm38)	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750 (GRCm38)	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566 (GRCm38)	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743 (GRCm38)		probably null	Het
Helz2	G	A	2: 181,236,297 (GRCm38)	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815 (GRCm38)	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444 (GRCm38)	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054 (GRCm38)	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305 (GRCm38)	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888 (GRCm38)	I527T	probably damaging	Het
Lcn4	G	A	2: 26,668,576 (GRCm38)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542 (GRCm38)		probably null	Het
Lilra6	T	A	7: 3,912,662 (GRCm38)	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,375,685 (GRCm38)	D24G	probably benign	Het
Mpp5	A	G	12: 78,829,727 (GRCm38)	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984 (GRCm38)	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595 (GRCm38)	G1157D	probably benign	Het
Naga	T	A	15: 82,334,788 (GRCm38)	M237L	probably null	Het
Nfu1	G	A	6: 87,020,809 (GRCm38)	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669 (GRCm38)	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720 (GRCm38)	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995 (GRCm38)	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267 (GRCm38)	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659 (GRCm38)	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131 (GRCm38)	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203 (GRCm38)	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494 (GRCm38)	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537 (GRCm38)	S857P	probably benign	Het
Plec	C	T	15: 76,185,908 (GRCm38)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481 (GRCm38)	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772 (GRCm38)	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684 (GRCm38)	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515 (GRCm38)	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690 (GRCm38)	I434V	probably benign	Het
Rel	T	A	11: 23,745,546 (GRCm38)	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719 (GRCm38)	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104 (GRCm38)	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157 (GRCm38)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060 (GRCm38)	D824E	possibly damaging	Het
Slc27a4	T	A	2: 29,811,190 (GRCm38)	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702 (GRCm38)	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662 (GRCm38)	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940 (GRCm38)		probably null	Het
Tep1	A	T	14: 50,866,037 (GRCm38)	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414 (GRCm38)	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158 (GRCm38)	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780 (GRCm38)	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764 (GRCm38)	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653 (GRCm38)		probably null	Het
Usp17lc	A	G	7: 103,418,941 (GRCm38)	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634 (GRCm38)	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586 (GRCm38)	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762 (GRCm38)	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151 (GRCm38)	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112 (GRCm38)	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081 (GRCm38)	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165 (GRCm38)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895 (GRCm38)	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349 (GRCm38)	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826 (GRCm38)	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065 (GRCm38)		probably null	Het
Zzef1	C	T	11: 72,924,679 (GRCm38)	P2942S	probably damaging	Het

Other mutations in Lars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Lars	APN	18	42,229,654 (GRCm38)	missense	probably damaging	0.99
IGL01340:Lars	APN	18	42,202,577 (GRCm38)	missense	probably benign	0.01
IGL01397:Lars	APN	18	42,228,029 (GRCm38)	missense	probably damaging	1.00
IGL01510:Lars	APN	18	42,242,109 (GRCm38)	missense	probably benign
IGL01542:Lars	APN	18	42,214,827 (GRCm38)	missense	probably benign	0.09
IGL01689:Lars	APN	18	42,216,949 (GRCm38)	missense	probably benign
IGL01819:Lars	APN	18	42,202,550 (GRCm38)	missense	probably benign	0.00
IGL02142:Lars	APN	18	42,227,280 (GRCm38)	missense	probably benign	0.01
IGL02598:Lars	APN	18	42,227,277 (GRCm38)	missense	possibly damaging	0.61
IGL02630:Lars	APN	18	42,257,169 (GRCm38)	missense	probably damaging	0.97
IGL02973:Lars	APN	18	42,214,759 (GRCm38)	critical splice donor site	probably null
IGL03064:Lars	APN	18	42,221,571 (GRCm38)	nonsense	probably null
IGL03081:Lars	APN	18	42,210,091 (GRCm38)	missense	probably benign	0.00
IGL03330:Lars	APN	18	42,219,944 (GRCm38)	missense	probably benign
IGL03334:Lars	APN	18	42,221,506 (GRCm38)	missense	probably benign
IGL03340:Lars	APN	18	42,228,650 (GRCm38)	splice site	probably benign
R0165:Lars	UTSW	18	42,202,697 (GRCm38)	missense	possibly damaging	0.91
R0321:Lars	UTSW	18	42,202,632 (GRCm38)	missense	probably damaging	0.96
R0325:Lars	UTSW	18	42,250,902 (GRCm38)	missense	possibly damaging	0.88
R0391:Lars	UTSW	18	42,251,363 (GRCm38)	missense	probably benign	0.00
R0558:Lars	UTSW	18	42,214,837 (GRCm38)	missense	probably benign
R0624:Lars	UTSW	18	42,242,784 (GRCm38)	splice site	probably benign
R0881:Lars	UTSW	18	42,214,786 (GRCm38)	missense	probably benign	0.22
R0968:Lars	UTSW	18	42,218,583 (GRCm38)	missense	probably benign	0.09
R1457:Lars	UTSW	18	42,210,050 (GRCm38)	missense	probably damaging	1.00
R1466:Lars	UTSW	18	42,210,050 (GRCm38)	missense	probably damaging	1.00
R1466:Lars	UTSW	18	42,210,050 (GRCm38)	missense	probably damaging	1.00
R1583:Lars	UTSW	18	42,210,050 (GRCm38)	missense	probably damaging	1.00
R1851:Lars	UTSW	18	42,212,608 (GRCm38)	missense	probably benign	0.09
R1852:Lars	UTSW	18	42,212,608 (GRCm38)	missense	probably benign	0.09
R1868:Lars	UTSW	18	42,214,837 (GRCm38)	missense	probably benign	0.04
R1954:Lars	UTSW	18	42,210,050 (GRCm38)	missense	probably damaging	1.00
R2277:Lars	UTSW	18	42,235,502 (GRCm38)	missense	probably benign	0.00
R3732:Lars	UTSW	18	42,212,602 (GRCm38)	missense	probably benign	0.00
R3732:Lars	UTSW	18	42,212,602 (GRCm38)	missense	probably benign	0.00
R3733:Lars	UTSW	18	42,212,602 (GRCm38)	missense	probably benign	0.00
R4208:Lars	UTSW	18	42,229,703 (GRCm38)	missense	probably benign	0.34
R4571:Lars	UTSW	18	42,228,230 (GRCm38)	splice site	probably null
R5009:Lars	UTSW	18	42,221,547 (GRCm38)	missense	probably benign	0.03
R5033:Lars	UTSW	18	42,214,776 (GRCm38)	missense	possibly damaging	0.92
R5152:Lars	UTSW	18	42,228,777 (GRCm38)	missense	possibly damaging	0.96
R5208:Lars	UTSW	18	42,217,557 (GRCm38)	missense	probably benign
R5219:Lars	UTSW	18	42,234,720 (GRCm38)	missense	probably benign	0.44
R5396:Lars	UTSW	18	42,216,959 (GRCm38)	missense	probably benign
R5433:Lars	UTSW	18	42,251,298 (GRCm38)	missense	possibly damaging	0.66
R5580:Lars	UTSW	18	42,214,851 (GRCm38)	missense	probably damaging	0.98
R5610:Lars	UTSW	18	42,257,091 (GRCm38)	missense	probably benign
R5784:Lars	UTSW	18	42,219,899 (GRCm38)	missense	probably benign	0.00
R6249:Lars	UTSW	18	42,257,206 (GRCm38)	splice site	probably null
R6334:Lars	UTSW	18	42,217,486 (GRCm38)	missense	probably benign
R6618:Lars	UTSW	18	42,244,908 (GRCm38)	missense	possibly damaging	0.86
R6900:Lars	UTSW	18	42,234,610 (GRCm38)	missense	probably benign
R6958:Lars	UTSW	18	42,236,639 (GRCm38)	missense	probably damaging	1.00
R7390:Lars	UTSW	18	42,210,018 (GRCm38)	critical splice donor site	probably null
R7451:Lars	UTSW	18	42,202,550 (GRCm38)	missense	probably benign	0.00
R7618:Lars	UTSW	18	42,244,891 (GRCm38)	missense	probably benign	0.10
R7831:Lars	UTSW	18	42,217,562 (GRCm38)	missense	probably benign	0.24
R7971:Lars	UTSW	18	42,218,566 (GRCm38)	missense	probably benign	0.06
R8003:Lars	UTSW	18	42,221,619 (GRCm38)	missense	probably damaging	1.00
R8082:Lars	UTSW	18	42,244,910 (GRCm38)	missense	probably damaging	0.98
R8144:Lars	UTSW	18	42,218,526 (GRCm38)	missense	probably damaging	0.98
R8181:Lars	UTSW	18	42,228,770 (GRCm38)	missense	probably damaging	0.98
R8196:Lars	UTSW	18	42,210,101 (GRCm38)	missense	possibly damaging	0.77
R8309:Lars	UTSW	18	42,243,028 (GRCm38)	missense	possibly damaging	0.54
R9039:Lars	UTSW	18	42,257,169 (GRCm38)	missense	probably damaging	0.97
R9101:Lars	UTSW	18	42,243,877 (GRCm38)	missense	probably damaging	1.00
R9306:Lars	UTSW	18	42,225,819 (GRCm38)	critical splice acceptor site	probably null
R9500:Lars	UTSW	18	42,228,661 (GRCm38)	missense	probably damaging	1.00
R9536:Lars	UTSW	18	42,242,981 (GRCm38)	nonsense	probably null
R9738:Lars	UTSW	18	42,217,584 (GRCm38)	missense	probably damaging	1.00
X0064:Lars	UTSW	18	42,228,060 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGCGCTCAAGTGACACAGAAG -3'
(R):5'- AGTGTAGTCCATACACCAGGGCATC -3'

Sequencing Primer
(F):5'- CCCAAGGAAATCTATGTCTCCAGG -3'
(R):5'- AGGGCATCTTGGTGTAGACATAC -3'

Posted On

2014-04-24