Incidental Mutation 'R8144:Lars1'
ID 632715
Institutional Source Beutler Lab
Gene Symbol Lars1
Ensembl Gene ENSMUSG00000024493
Gene Name leucyl-tRNA synthetase 1
Synonyms 3110009L02Rik, 2310045K21Rik, Lars
MMRRC Submission 067572-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8144 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 42335363-42395259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 42351591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 871 (H871P)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
AlphaFold Q8BMJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000097590
AA Change: H871P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: H871P

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: 99.7%
  • 3x: 99.4%
  • 10x: 98.0%
  • 20x: 90.8%
Validation Efficiency 96% (50/52)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,166,388 (GRCm39) probably benign Het
A2ml1 T C 6: 128,546,962 (GRCm39) D389G possibly damaging Het
Acy1 A T 9: 106,313,319 (GRCm39) probably null Het
Adcy2 G A 13: 68,882,754 (GRCm39) Q328* probably null Het
Arhgef40 T A 14: 52,235,632 (GRCm39) V1171E probably damaging Het
Arrb1 G A 7: 99,247,659 (GRCm39) probably null Het
Atxn1l G A 8: 110,459,233 (GRCm39) A343V probably benign Het
C3 A T 17: 57,533,276 (GRCm39) V109E probably damaging Het
Clptm1 A T 7: 19,367,827 (GRCm39) V595E possibly damaging Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Dhrs3 T C 4: 144,646,474 (GRCm39) S175P probably damaging Het
Eif2b1 A T 5: 124,711,208 (GRCm39) M187K probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Evc2 T C 5: 37,537,911 (GRCm39) L533P probably damaging Het
Fam221b T G 4: 43,665,465 (GRCm39) Q331P probably damaging Het
Fam221b G T 4: 43,665,466 (GRCm39) Q331K probably benign Het
Golga3 T C 5: 110,333,745 (GRCm39) V127A probably damaging Het
Itsn1 C T 16: 91,708,893 (GRCm39) P1719L unknown Het
Mamdc4 A T 2: 25,457,019 (GRCm39) V590E probably damaging Het
Mdga2 A G 12: 66,702,037 (GRCm39) I457T probably damaging Het
Morc2a T C 11: 3,634,039 (GRCm39) V717A probably benign Het
Or1p1c C A 11: 74,160,384 (GRCm39) H56Q probably damaging Het
Or8d2b A T 9: 38,788,662 (GRCm39) L63F probably damaging Het
Pank4 A T 4: 155,054,537 (GRCm39) Q170L probably benign Het
Pde4dip G T 3: 97,622,742 (GRCm39) A1489D probably damaging Het
Pde8b A T 13: 95,359,278 (GRCm39) I15N probably damaging Het
Pex16 A C 2: 92,205,985 (GRCm39) E26A probably damaging Het
Poglut2 A G 1: 44,149,966 (GRCm39) Y408H probably damaging Het
Polq C T 16: 36,849,846 (GRCm39) P367S probably benign Het
Polr1a T A 6: 71,927,600 (GRCm39) V817E probably benign Het
Pthlh T C 6: 147,158,663 (GRCm39) D99G probably damaging Het
Rasgrp4 A T 7: 28,848,542 (GRCm39) S556C probably damaging Het
Rhobtb1 G T 10: 69,125,388 (GRCm39) V653L possibly damaging Het
Rin2 G A 2: 145,664,225 (GRCm39) R33Q probably benign Het
Rmc1 A T 18: 12,318,704 (GRCm39) probably null Het
Sh3rf2 C T 18: 42,274,124 (GRCm39) T430I probably benign Het
Slc14a2 A G 18: 78,227,759 (GRCm39) probably null Het
Slc39a8 C T 3: 135,590,404 (GRCm39) Q366* probably null Het
Spata31h1 A T 10: 82,130,433 (GRCm39) L859* probably null Het
Tagln3 G T 16: 45,544,554 (GRCm39) A39D probably benign Het
Tfdp1 T A 8: 13,423,015 (GRCm39) C307S probably benign Het
Tlr11 T C 14: 50,599,945 (GRCm39) S644P probably damaging Het
Tnpo3 T C 6: 29,558,761 (GRCm39) D723G probably benign Het
Xpo5 A G 17: 46,519,145 (GRCm39) N195D probably benign Het
Zfp11 T C 5: 129,733,694 (GRCm39) Y589C possibly damaging Het
Zfp712 T C 13: 67,189,172 (GRCm39) T452A probably benign 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
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'- GCAGCCCTATATATGCCAGG -3'
(R):5'- ACAGACTTCCTTCTTGACAATCG -3'

Sequencing Primer
(F):5'- CCTTTTTAACCACTGGAAGAACAG -3'
(R):5'- TCCTTAATGCATTAAAACCAAGAAAC -3'
Posted On 2020-06-30