Incidental Mutation 'IGL02630:Lars1'
ID 301267
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 # IGL02630
Quality Score
Status
Chromosome 18
Chromosomal Location 42335363-42395259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42390234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 11 (D11G)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
AlphaFold Q8BMJ2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091925
Predicted Effect probably damaging
Transcript: ENSMUST00000097590
AA Change: D11G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: D11G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Lars1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16