Incidental Mutation 'IGL03410:Lars2'
ID421767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lars2
Ensembl Gene ENSMUSG00000035202
Gene Nameleucyl-tRNA synthetase, mitochondrial
SynonymsKiaa0028
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03410
Quality Score
Status
Chromosome9
Chromosomal Location123366927-123462666 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 123418776 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 333 (A333T)
Ref Sequence ENSEMBL: ENSMUSP00000150083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000217116]
Predicted Effect probably benign
Transcript: ENSMUST00000038863
AA Change: A333T

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: A333T

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 57 223 7.6e-24 PFAM
Pfam:tRNA-synt_1g 83 239 9.3e-20 PFAM
Pfam:tRNA-synt_1_2 269 430 1.1e-8 PFAM
Pfam:tRNA-synt_1 434 609 5.6e-8 PFAM
Pfam:tRNA-synt_1g 589 682 1.2e-6 PFAM
Pfam:tRNA-synt_1 633 678 1.6e-7 PFAM
Pfam:Anticodon_1 724 867 9.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214557
Predicted Effect possibly damaging
Transcript: ENSMUST00000217116
AA Change: A333T

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
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 class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Lars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Lars2 APN 9 123453248 missense probably damaging 0.98
IGL01993:Lars2 APN 9 123394943 splice site probably benign
IGL02155:Lars2 APN 9 123454982 missense probably damaging 0.99
IGL02941:Lars2 APN 9 123459585 missense probably damaging 0.97
IGL03090:Lars2 APN 9 123455960 missense probably damaging 1.00
IGL03271:Lars2 APN 9 123459484 splice site probably null
IGL03386:Lars2 APN 9 123453390 nonsense probably null
ulrich UTSW 9 123418693 missense probably damaging 0.99
K3955:Lars2 UTSW 9 123377777 missense probably damaging 1.00
P0038:Lars2 UTSW 9 123377777 missense probably damaging 1.00
R0276:Lars2 UTSW 9 123438121 splice site probably benign
R1671:Lars2 UTSW 9 123418279 missense probably benign 0.02
R1829:Lars2 UTSW 9 123431917 missense probably benign 0.00
R2219:Lars2 UTSW 9 123418780 missense probably damaging 0.98
R2220:Lars2 UTSW 9 123418780 missense probably damaging 0.98
R4610:Lars2 UTSW 9 123418693 missense probably damaging 0.99
R5027:Lars2 UTSW 9 123441495 missense probably benign 0.38
R5195:Lars2 UTSW 9 123453310 missense probably damaging 0.97
R5597:Lars2 UTSW 9 123454982 missense probably damaging 0.99
R5756:Lars2 UTSW 9 123438199 missense probably damaging 1.00
R5783:Lars2 UTSW 9 123461596 missense probably benign
R6045:Lars2 UTSW 9 123371988 missense probably damaging 1.00
R6235:Lars2 UTSW 9 123411880 missense probably damaging 1.00
R6323:Lars2 UTSW 9 123441594 nonsense probably null
R6377:Lars2 UTSW 9 123454760 missense probably benign 0.00
R6395:Lars2 UTSW 9 123371925 missense probably benign 0.06
R7094:Lars2 UTSW 9 123459585 missense probably damaging 0.99
R7144:Lars2 UTSW 9 123431993 missense probably damaging 1.00
R7233:Lars2 UTSW 9 123411954 nonsense probably null
R7254:Lars2 UTSW 9 123454963 missense possibly damaging 0.93
Posted On2016-08-02