Incidental Mutation 'IGL02142:Lars'
ID281590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lars
Ensembl Gene ENSMUSG00000024493
Gene Nameleucyl-tRNA synthetase
Synonyms2310045K21Rik, 3110009L02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02142
Quality Score
Status
Chromosome18
Chromosomal Location42202350-42262122 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42227280 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 704 (V704M)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
Predicted Effect probably benign
Transcript: ENSMUST00000097590
AA Change: V704M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: V704M

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik G A 19: 11,110,331 Q79* probably null Het
Abca4 T C 3: 122,169,926 S2060P probably benign Het
Abcg4 A G 9: 44,277,717 F426S probably benign Het
Actn1 C T 12: 80,176,155 probably null Het
Adgrd1 T A 5: 129,131,584 H251Q probably benign Het
Adgrg3 C T 8: 95,039,855 P385S probably damaging Het
Ampd2 G T 3: 108,080,344 probably benign Het
Arhgap42 A G 9: 9,155,359 S86P probably damaging Het
Armc4 C A 18: 7,214,601 W733C probably damaging Het
Art5 C T 7: 102,097,916 E121K probably null Het
Atad5 G A 11: 80,094,197 E37K probably benign Het
Atp13a5 A G 16: 29,234,563 V1084A probably benign Het
Cfap44 T C 16: 44,421,144 I626T probably benign Het
Col16a1 T A 4: 130,051,647 probably null Het
Defa22 T G 8: 21,163,114 C81G possibly damaging Het
Dnm2 A G 9: 21,500,353 Y622C probably damaging Het
Efna5 T A 17: 62,607,345 L201F unknown Het
Elac1 T C 18: 73,738,920 R335G probably benign Het
Enpp5 T C 17: 44,085,577 V460A probably benign Het
Esr2 A G 12: 76,123,195 V453A probably benign Het
Fam210b T A 2: 172,352,577 probably benign Het
Fcgr1 T C 3: 96,284,577 Y305C probably benign Het
Fcrlb A G 1: 170,908,679 V176A probably damaging Het
Gabrq T A X: 72,836,177 V256E possibly damaging Het
Gba T C 3: 89,205,841 L193P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Helq A G 5: 100,783,094 F597L probably benign Het
Hrh1 A T 6: 114,480,243 I162L probably damaging Het
Jph1 A T 1: 17,091,660 F259L probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Kdm4c T A 4: 74,307,016 probably null Het
Kif13a T C 13: 46,771,535 T308A probably benign Het
Lcmt2 A G 2: 121,138,913 L343P possibly damaging Het
Lhfpl1 A G X: 145,340,737 F125L probably benign Het
Lmbrd2 C A 15: 9,186,685 D582E probably damaging Het
Lrrn2 T A 1: 132,939,245 S683T possibly damaging Het
Macf1 T C 4: 123,472,049 D1408G probably benign Het
Magi3 T C 3: 104,015,903 K1166R probably benign Het
March5 T C 19: 37,220,493 probably benign Het
Naa25 A G 5: 121,426,762 Q555R possibly damaging Het
Npat A G 9: 53,569,907 T1005A probably benign Het
Nt5c3 G A 6: 56,886,685 A108V probably damaging Het
Ocrl T A X: 47,936,118 M322K probably damaging Het
Olfr229 A G 9: 39,910,639 T279A possibly damaging Het
Psg23 A T 7: 18,610,420 V370E probably benign Het
Rassf2 A T 2: 131,996,433 M311K possibly damaging Het
Rhobtb3 A G 13: 75,877,495 Y501H probably damaging Het
Rpl4 A G 9: 64,176,206 D179G possibly damaging Het
Scn2a T A 2: 65,715,838 I915N probably damaging Het
Scn3a T A 2: 65,526,621 T160S possibly damaging Het
Slx4ip T G 2: 137,068,022 N242K possibly damaging Het
Spidr T A 16: 16,048,081 Q288L probably benign Het
Sun1 A T 5: 139,231,163 H255L possibly damaging Het
Tacc1 C T 8: 25,175,217 G51S probably damaging Het
Tet2 T A 3: 133,480,139 N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,062,592 Y349C probably damaging Het
Tnrc6a T C 7: 123,152,191 probably benign Het
Trim32 T C 4: 65,614,499 L431P probably damaging Het
Vmn1r35 A G 6: 66,679,350 L112S probably damaging Het
Vmn2r100 A C 17: 19,522,321 H319P probably damaging Het
Wdr20rt A G 12: 65,227,265 T328A probably benign Het
Zbtb17 T C 4: 141,464,982 Y413H probably benign Het
Other mutations in Lars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Lars APN 18 42229654 missense probably damaging 0.99
IGL01340:Lars APN 18 42202577 missense probably benign 0.01
IGL01397:Lars APN 18 42228029 missense probably damaging 1.00
IGL01510:Lars APN 18 42242109 missense probably benign
IGL01542:Lars APN 18 42214827 missense probably benign 0.09
IGL01689:Lars APN 18 42216949 missense probably benign
IGL01819:Lars APN 18 42202550 missense probably benign 0.00
IGL02598:Lars APN 18 42227277 missense possibly damaging 0.61
IGL02630:Lars APN 18 42257169 missense probably damaging 0.97
IGL02973:Lars APN 18 42214759 critical splice donor site probably null
IGL03064:Lars APN 18 42221571 nonsense probably null
IGL03081:Lars APN 18 42210091 missense probably benign 0.00
IGL03330:Lars APN 18 42219944 missense probably benign
IGL03334:Lars APN 18 42221506 missense probably benign
IGL03340:Lars APN 18 42228650 splice site probably benign
R0165:Lars UTSW 18 42202697 missense possibly damaging 0.91
R0321:Lars UTSW 18 42202632 missense probably damaging 0.96
R0325:Lars UTSW 18 42250902 missense possibly damaging 0.88
R0391:Lars UTSW 18 42251363 missense probably benign 0.00
R0558:Lars UTSW 18 42214837 missense probably benign
R0624:Lars UTSW 18 42242784 splice site probably benign
R0881:Lars UTSW 18 42214786 missense probably benign 0.22
R0968:Lars UTSW 18 42218583 missense probably benign 0.09
R1457:Lars UTSW 18 42210050 missense probably damaging 1.00
R1466:Lars UTSW 18 42210050 missense probably damaging 1.00
R1466:Lars UTSW 18 42210050 missense probably damaging 1.00
R1583:Lars UTSW 18 42210050 missense probably damaging 1.00
R1584:Lars UTSW 18 42210050 missense probably damaging 1.00
R1851:Lars UTSW 18 42212608 missense probably benign 0.09
R1852:Lars UTSW 18 42212608 missense probably benign 0.09
R1868:Lars UTSW 18 42214837 missense probably benign 0.04
R1954:Lars UTSW 18 42210050 missense probably damaging 1.00
R2277:Lars UTSW 18 42235502 missense probably benign 0.00
R3732:Lars UTSW 18 42212602 missense probably benign 0.00
R3732:Lars UTSW 18 42212602 missense probably benign 0.00
R3733:Lars UTSW 18 42212602 missense probably benign 0.00
R4208:Lars UTSW 18 42229703 missense probably benign 0.34
R4571:Lars UTSW 18 42228230 splice site probably null
R5009:Lars UTSW 18 42221547 missense probably benign 0.03
R5033:Lars UTSW 18 42214776 missense possibly damaging 0.92
R5152:Lars UTSW 18 42228777 missense possibly damaging 0.96
R5208:Lars UTSW 18 42217557 missense probably benign
R5219:Lars UTSW 18 42234720 missense probably benign 0.44
R5396:Lars UTSW 18 42216959 missense probably benign
R5433:Lars UTSW 18 42251298 missense possibly damaging 0.66
R5580:Lars UTSW 18 42214851 missense probably damaging 0.98
R5610:Lars UTSW 18 42257091 missense probably benign
R5784:Lars UTSW 18 42219899 missense probably benign 0.00
R6249:Lars UTSW 18 42257206 splice site probably null
R6334:Lars UTSW 18 42217486 missense probably benign
R6618:Lars UTSW 18 42244908 missense possibly damaging 0.86
R6900:Lars UTSW 18 42234610 missense probably benign
R6958:Lars UTSW 18 42236639 missense probably damaging 1.00
R7390:Lars UTSW 18 42210018 critical splice donor site probably null
R7451:Lars UTSW 18 42202550 missense probably benign 0.00
X0064:Lars UTSW 18 42228060 missense probably benign 0.05
Posted On2015-04-16