Incidental Mutation 'R9101:Lars1'
ID 720394
Institutional Source Beutler Lab
Gene Symbol Lars1
Ensembl Gene ENSMUSG00000024493
Gene Name leucyl-tRNA synthetase 1
Synonyms 3110009L02Rik, 2310045K21Rik, Lars
MMRRC Submission 068915-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9101 (G1)
Quality Score 46.0072
Status Validated
Chromosome 18
Chromosomal Location 42335363-42395259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42376942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 205 (R205C)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
AlphaFold Q8BMJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000097590
AA Change: R205C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: R205C

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,455,376 (GRCm39) V731A probably benign Het
Adamts7 T C 9: 90,071,794 (GRCm39) probably null Het
Afdn T C 17: 14,043,706 (GRCm39) V388A probably damaging Het
Alg3 A G 16: 20,427,599 (GRCm39) Y113H possibly damaging Het
Aox1 C T 1: 58,371,796 (GRCm39) P820L probably benign Het
Avil A G 10: 126,852,873 (GRCm39) D731G probably benign Het
Blvra C T 2: 126,927,890 (GRCm39) L47F probably damaging Het
Bmerb1 T A 16: 13,867,259 (GRCm39) I39N probably damaging Het
Ccdc85c C A 12: 108,240,917 (GRCm39) R159L unknown Het
Clcn2 T C 16: 20,525,979 (GRCm39) D797G probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Dclre1a A T 19: 56,532,738 (GRCm39) F619I possibly damaging Het
Dnajb1 C A 8: 84,335,119 (GRCm39) D53E probably benign Het
Dnmt1 T C 9: 20,852,839 (GRCm39) D89G probably damaging Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gm9507 A G 10: 77,647,650 (GRCm39) S10P unknown Het
Hacd2 G A 16: 34,920,156 (GRCm39) V138I probably benign Het
Hhip A T 8: 80,770,591 (GRCm39) V272D probably damaging Het
Hoga1 A C 19: 42,048,347 (GRCm39) T72P possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kif21b G A 1: 136,078,893 (GRCm39) G414S probably damaging Het
Klk1b5 T A 7: 43,500,205 (GRCm39) D264E probably benign Het
Ly6a A T 15: 74,869,419 (GRCm39) L12Q probably null Het
Mastl A G 2: 23,008,449 (GRCm39) *866Q probably null Het
Mpzl3 T A 9: 44,981,983 (GRCm39) M217K possibly damaging Het
Mroh2b T A 15: 4,929,935 (GRCm39) M7K probably benign Het
Mtarc2 T A 1: 184,554,687 (GRCm39) R273W probably null Het
Nefh A G 11: 4,890,925 (GRCm39) S565P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nsd1 C T 13: 55,461,359 (GRCm39) L2632F Het
Or10d1 T A 9: 39,483,805 (GRCm39) Y250F probably benign Het
Or1a1b C T 11: 74,097,322 (GRCm39) C240Y probably damaging Het
Or4a71 A T 2: 89,358,721 (GRCm39) I11N possibly damaging Het
Or51ac3 A T 7: 103,213,680 (GRCm39) F269I possibly damaging Het
Or51r1 T C 7: 102,228,137 (GRCm39) V145A probably benign Het
Or5m10b A G 2: 85,694,523 (GRCm39) probably benign Het
Or5w18 T C 2: 87,632,924 (GRCm39) Y60H probably damaging Het
Pcdhga6 T C 18: 37,841,393 (GRCm39) V371A possibly damaging Het
Pdss2 A G 10: 43,269,945 (GRCm39) K263E possibly damaging Het
Phf3 C T 1: 30,843,026 (GRCm39) A1978T possibly damaging Het
Phykpl C A 11: 51,483,741 (GRCm39) T207K probably benign Het
Pkd2 T A 5: 104,628,230 (GRCm39) C435S probably damaging Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel52-ps G A 5: 94,531,899 (GRCm39) C261Y probably damaging Het
Prkra T A 2: 76,478,184 (GRCm39) H6L probably benign Het
Prpf39 A G 12: 65,090,078 (GRCm39) K131E probably damaging Het
Prpf40a A G 2: 53,035,255 (GRCm39) V762A probably benign Het
Prr27 C T 5: 87,991,330 (GRCm39) T314I probably damaging Het
Ptges3 A G 10: 127,907,998 (GRCm39) D116G possibly damaging Het
Rab11fip5 G T 6: 85,317,675 (GRCm39) F1071L probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Slc45a3 T C 1: 131,905,175 (GRCm39) V66A possibly damaging Het
Spata31e5 T A 1: 28,815,740 (GRCm39) D764V probably benign Het
Ten1 A G 11: 116,096,562 (GRCm39) Y72C probably damaging Het
Tenm3 A G 8: 48,745,186 (GRCm39) L1125S probably damaging Het
Thpo T A 16: 20,544,557 (GRCm39) I159F possibly damaging Het
Tmppe T C 9: 114,234,309 (GRCm39) S203P probably damaging Het
Ttc23l A T 15: 10,537,661 (GRCm39) I203N probably benign Het
Vars2 A G 17: 35,969,980 (GRCm39) L803P possibly damaging Het
Vmn2r110 T A 17: 20,794,471 (GRCm39) I733F Het
Xxylt1 T C 16: 30,899,745 (GRCm39) N137D possibly damaging Het
Zc3h13 G A 14: 75,561,042 (GRCm39) R544Q unknown Het
Zfhx4 C T 3: 5,477,198 (GRCm39) T3271I probably benign Het
Zfp943 T A 17: 22,212,392 (GRCm39) C493S possibly 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
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
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
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'- GGACACATGTACTGAACTCTAAGGC -3'
(R):5'- ACACCTGACTCATAAGAATCCTTG -3'

Sequencing Primer
(F):5'- TGAACTCTAAGGCAAGAATTATCATG -3'
(R):5'- GCACTGACTGCTCTTCTAGAGGAC -3'
Posted On 2022-08-03