Incidental Mutation 'R6334:Lars1'
ID 510734
Institutional Source Beutler Lab
Gene Symbol Lars1
Ensembl Gene ENSMUSG00000024493
Gene Name leucyl-tRNA synthetase 1
Synonyms 3110009L02Rik, 2310045K21Rik, Lars
MMRRC Submission 044488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6334 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 42335363-42395259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42350551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 919 (M919I)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
AlphaFold Q8BMJ2
Predicted Effect probably benign
Transcript: ENSMUST00000097590
AA Change: M919I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: M919I

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
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
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
2810021J22Rik T A 11: 58,770,940 (GRCm39) S141T probably benign Het
Afap1l2 A G 19: 56,906,408 (GRCm39) probably null Het
Aox1 C T 1: 58,346,566 (GRCm39) Q567* probably null Het
Aqp4 T A 18: 15,526,648 (GRCm39) M278L probably benign Het
Atp23 A C 10: 126,723,538 (GRCm39) L188R probably benign Het
Catsperg1 C T 7: 28,905,782 (GRCm39) G215D probably benign Het
Cavin4 T C 4: 48,663,824 (GRCm39) V68A possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cfap46 T C 7: 139,260,747 (GRCm39) E117G probably damaging Het
Cfhr4 A G 1: 139,701,662 (GRCm39) probably null Het
Chek1 A G 9: 36,625,788 (GRCm39) S286P possibly damaging Het
Cntn4 G A 6: 106,321,747 (GRCm39) V35I probably benign Het
Cntn4 C A 6: 106,483,153 (GRCm39) P236Q probably benign Het
Cyp2d40 C A 15: 82,645,753 (GRCm39) G84V probably benign Het
Dnah12 A T 14: 26,427,989 (GRCm39) H205L possibly damaging Het
Dock1 G A 7: 134,453,305 (GRCm39) V845I probably benign Het
Drg1 T C 11: 3,216,292 (GRCm39) K7E possibly damaging Het
Eloa G A 4: 135,737,133 (GRCm39) P488S probably damaging Het
Evi5 G A 5: 107,968,387 (GRCm39) R187* probably null Het
Fam53a T A 5: 33,758,219 (GRCm39) L301F probably damaging Het
Fmnl3 T C 15: 99,235,534 (GRCm39) K63E probably damaging Het
Gast C A 11: 100,227,438 (GRCm39) Q44K probably benign Het
Gng10 T A 4: 59,035,257 (GRCm39) V7E probably benign Het
Gtf3c5 G A 2: 28,460,474 (GRCm39) T375I probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hspa14 A T 2: 3,490,109 (GRCm39) probably null Het
Kcna3 T C 3: 106,943,740 (GRCm39) M1T probably null Het
Kcnj15 T G 16: 95,097,095 (GRCm39) L239R probably damaging Het
Klhl2 G T 8: 65,212,842 (GRCm39) D232E probably benign Het
Lamb3 A T 1: 193,017,782 (GRCm39) I888F probably damaging Het
Lfng T C 5: 140,598,522 (GRCm39) V247A possibly damaging Het
Lrp1b C T 2: 41,679,045 (GRCm39) A16T probably benign Het
Mamdc2 A T 19: 23,341,270 (GRCm39) I235N probably damaging Het
Map9 T A 3: 82,290,612 (GRCm39) L492Q probably damaging Het
Mcpt8 A G 14: 56,322,604 (GRCm39) V14A possibly damaging Het
Myo1b T C 1: 51,807,810 (GRCm39) K823R probably null Het
Nbea G T 3: 55,944,570 (GRCm39) T598K probably damaging Het
Nrcam C A 12: 44,619,083 (GRCm39) H877N probably benign Het
Nrxn2 T C 19: 6,581,322 (GRCm39) probably null Het
Nwd2 A T 5: 63,957,596 (GRCm39) I309F possibly damaging Het
Phyhd1 G A 2: 30,164,736 (GRCm39) probably null Het
Pkp2 C T 16: 16,043,933 (GRCm39) T229I probably damaging Het
Plagl2 G A 2: 153,074,611 (GRCm39) P97S probably benign Het
Plekhh2 C A 17: 84,874,294 (GRCm39) N526K probably benign Het
Plin4 A G 17: 56,410,261 (GRCm39) L1217P probably benign Het
Polr3e T C 7: 120,527,222 (GRCm39) S67P possibly damaging Het
Postn A G 3: 54,292,703 (GRCm39) K757E probably benign Het
Prpf39 T A 12: 65,089,587 (GRCm39) probably null Het
Ptprg C T 14: 12,166,832 (GRCm38) T745I probably damaging Het
Pxylp1 C G 9: 96,707,307 (GRCm39) A292P probably damaging Het
Rpl35 G T 2: 38,891,754 (GRCm39) D82E possibly damaging Het
Slc9a1 G A 4: 133,149,519 (GRCm39) V782I possibly damaging Het
Syn2 T A 6: 115,240,875 (GRCm39) M415K possibly damaging Het
Tmem117 A C 15: 94,909,324 (GRCm39) I246L probably benign Het
Tmem221 A T 8: 72,011,428 (GRCm39) V9E probably damaging Het
Trav13-5 A G 14: 54,033,399 (GRCm39) T103A probably damaging Het
Ubxn7 T A 16: 32,191,007 (GRCm39) probably null Het
Vmn2r101 G T 17: 19,810,112 (GRCm39) M299I possibly damaging Het
Vmn2r103 T A 17: 20,014,344 (GRCm39) S379T probably damaging Het
Vmn2r109 T C 17: 20,761,440 (GRCm39) N639S probably benign Het
Wdr26 T C 1: 181,030,771 (GRCm39) Het
Zfp109 T A 7: 23,928,308 (GRCm39) Y367F probably damaging Het
Zfp143 G A 7: 109,685,338 (GRCm39) C389Y probably damaging Het
Zfp553 G T 7: 126,836,064 (GRCm39) probably null 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
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'- GTGCTCCACACCATACATGC -3'
(R):5'- ACGATTACAGATGGTAGCTGTG -3'

Sequencing Primer
(F):5'- CATGCTCCAGACCTTTAAGTTAGAAC -3'
(R):5'- TGGATGAGTCCTTGATCC -3'
Posted On 2018-04-02