Incidental Mutation 'IGL01397:Lars'
ID79512
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 #IGL01397
Quality Score
Status
Chromosome18
Chromosomal Location42202350-42262122 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 42228029 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 691 (H691Q)
Ref Sequence ENSEMBL: ENSMUSP00000095197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097590]
Predicted Effect probably damaging
Transcript: ENSMUST00000097590
AA Change: H691Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: H691Q

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 128,034,891 T436P possibly damaging Het
Afap1 T A 5: 35,968,708 V349E probably damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Crybb3 T C 5: 113,079,835 E40G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Foxi1 T A 11: 34,207,599 Q142L probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Snx30 T C 4: 59,894,526 V368A probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Washc2 A G 6: 116,247,998 D683G probably benign Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown 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
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
IGL02142:Lars APN 18 42227280 missense probably benign 0.01
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
R7618:Lars UTSW 18 42244891 missense probably benign 0.10
R7831:Lars UTSW 18 42217562 missense probably benign 0.24
R8003:Lars UTSW 18 42221619 missense probably damaging 1.00
R8082:Lars UTSW 18 42244910 missense probably damaging 0.98
R8144:Lars UTSW 18 42218526 missense probably damaging 0.98
R8181:Lars UTSW 18 42228770 missense probably damaging 0.98
R8196:Lars UTSW 18 42210101 missense possibly damaging 0.77
R8309:Lars UTSW 18 42243028 missense possibly damaging 0.54
X0064:Lars UTSW 18 42228060 missense probably benign 0.05
Posted On2013-11-05