Incidental Mutation 'IGL03334:Lars'
ID 416965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lars
Ensembl Gene ENSMUSG00000024493
Gene Name leucyl-tRNA synthetase
Synonyms 2310045K21Rik, 3110009L02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03334
Quality Score
Status
Chromosome 18
Chromosomal Location 42202350-42262122 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42221506 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 792 (D792G)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
AlphaFold Q8BMJ2
Predicted Effect probably benign
Transcript: ENSMUST00000097590
AA Change: D792G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: D792G

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 (GRCm38) F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 (GRCm38) I286F probably benign Het
Angpt1 T A 15: 42,496,412 (GRCm38) E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 (GRCm38) S562P possibly damaging Het
Asb6 T C 2: 30,824,484 (GRCm38) T205A probably benign Het
B4galnt4 G A 7: 141,067,441 (GRCm38) probably null Het
Clca4a A T 3: 144,953,866 (GRCm38) M743K probably benign Het
Col14a1 T C 15: 55,448,821 (GRCm38) probably benign Het
Col27a1 A T 4: 63,314,722 (GRCm38) Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 (GRCm38) V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 (GRCm38) probably null Het
Fnbp1l A G 3: 122,557,949 (GRCm38) V315A probably benign Het
Gm17174 T A 14: 51,591,963 (GRCm38) R48* probably null Het
Golga4 C T 9: 118,537,233 (GRCm38) probably benign Het
Grin1 C T 2: 25,298,393 (GRCm38) probably null Het
Ifi203 T A 1: 173,937,835 (GRCm38) K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 (GRCm38) S93P probably benign Het
Il27ra A G 8: 84,031,122 (GRCm38) V594A probably benign Het
Krr1 T G 10: 111,980,054 (GRCm38) S275R probably benign Het
Myo1f G A 17: 33,598,194 (GRCm38) R737H probably damaging Het
Nebl T A 2: 17,413,711 (GRCm38) H292L probably damaging Het
Nell1 C A 7: 50,062,611 (GRCm38) probably null Het
Nktr T C 9: 121,748,176 (GRCm38) F412L probably benign Het
Nlrp3 T A 11: 59,549,016 (GRCm38) I473N probably damaging Het
Olfr338 T C 2: 36,377,051 (GRCm38) Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 (GRCm38) V1383A probably damaging Het
Prss48 T C 3: 85,997,318 (GRCm38) E191G probably damaging Het
Psg25 T A 7: 18,529,774 (GRCm38) L41F probably benign Het
Sema3b A G 9: 107,604,077 (GRCm38) L78P probably damaging Het
Spen G T 4: 141,469,969 (GRCm38) N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 (GRCm38) H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 (GRCm38) probably benign Het
Vmn1r218 T C 13: 23,136,618 (GRCm38) L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 (GRCm38) Y748F probably damaging Het
Vps18 C T 2: 119,297,482 (GRCm38) R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 (GRCm38) K224E probably damaging Het
Zbed5 T A 5: 129,902,355 (GRCm38) F382I possibly damaging Het
Other mutations in Lars
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1584: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
Posted On 2016-08-02