Incidental Mutation 'IGL02005:Kars1'
ID 183145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kars1
Ensembl Gene ENSMUSG00000031948
Gene Name lysyl-tRNA synthetase 1
Synonyms D8Ertd698e, LysRS, Kars, D8Wsu108e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02005
Quality Score
Status
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 112726736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 321 (L321*)
Ref Sequence ENSEMBL: ENSMUSP00000126268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000093120] [ENSMUST00000164470]
AlphaFold Q99MN1
Predicted Effect probably null
Transcript: ENSMUST00000034426
AA Change: L292*
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: L292*

DomainStartEndE-ValueType
coiled coil region 14 53 N/A INTRINSIC
Pfam:tRNA_anti-codon 124 204 2.8e-15 PFAM
Pfam:tRNA-synt_2 220 573 4.9e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000093120
AA Change: L321*
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: L321*

DomainStartEndE-ValueType
coiled coil region 44 82 N/A INTRINSIC
Pfam:tRNA_anti-codon 153 233 3.6e-17 PFAM
Pfam:tRNA-synt_2 249 601 1.1e-79 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164470
AA Change: L321*
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: L321*

DomainStartEndE-ValueType
coiled coil region 44 82 N/A INTRINSIC
Pfam:tRNA_anti-codon 153 233 1.6e-16 PFAM
Pfam:tRNA-synt_2 249 602 1.8e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212693
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,965,927 (GRCm39) D141G probably damaging Het
Ankhd1 T G 18: 36,781,479 (GRCm39) L2177R probably damaging Het
Arhgap23 A T 11: 97,382,045 (GRCm39) D1136V probably damaging Het
Atp6v1b1 A G 6: 83,730,896 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,701 (GRCm39) T65A probably benign Het
Bbs4 A G 9: 59,243,638 (GRCm39) probably benign Het
Bms1 G A 6: 118,381,546 (GRCm39) T664M probably damaging Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cdhr2 C T 13: 54,867,576 (GRCm39) H469Y probably benign Het
Cep57l1 T C 10: 41,616,957 (GRCm39) D110G probably benign Het
Chd4 G A 6: 125,105,779 (GRCm39) E1786K possibly damaging Het
Cltc T C 11: 86,621,045 (GRCm39) K321E possibly damaging Het
Col6a2 T C 10: 76,446,007 (GRCm39) D383G probably damaging Het
Crcp T G 5: 130,071,074 (GRCm39) C58G probably benign Het
Ctc1 A G 11: 68,921,975 (GRCm39) Y807C probably damaging Het
Eml4 T A 17: 83,785,132 (GRCm39) probably benign Het
Glce A T 9: 61,967,859 (GRCm39) L431I probably damaging Het
Glp1r C A 17: 31,143,585 (GRCm39) T207K probably benign Het
Gm28042 G A 2: 119,865,115 (GRCm39) V247I possibly damaging Het
Gvin-ps5 G T 7: 105,928,627 (GRCm39) F423L unknown Het
Hcrtr1 T A 4: 130,031,056 (GRCm39) H76L probably benign Het
Hoxb13 G A 11: 96,085,435 (GRCm39) G56D probably damaging Het
Hykk A G 9: 54,827,842 (GRCm39) E27G possibly damaging Het
Klhl12 A T 1: 134,391,652 (GRCm39) T95S possibly damaging Het
Klhl14 A T 18: 21,757,668 (GRCm39) Y347* probably null Het
Kmt5b A G 19: 3,836,538 (GRCm39) H25R possibly damaging Het
Krtap12-1 T A 10: 77,556,823 (GRCm39) V122D probably damaging Het
Lrrc66 T C 5: 73,766,077 (GRCm39) D322G possibly damaging Het
Lrrc8b T A 5: 105,628,920 (GRCm39) V422D probably benign Het
Med12l T G 3: 59,152,368 (GRCm39) M1051R probably damaging Het
Mmrn1 A G 6: 60,937,728 (GRCm39) Y242C probably damaging Het
Ncf2 A T 1: 152,692,803 (GRCm39) I107L possibly damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdlim4 T C 11: 53,950,810 (GRCm39) D93G probably benign Het
Pgap1 C A 1: 54,590,214 (GRCm39) A75S probably damaging Het
Pkd1 A G 17: 24,804,978 (GRCm39) D3209G possibly damaging Het
Prcp T C 7: 92,577,032 (GRCm39) S319P probably benign Het
Rasal2 G A 1: 156,984,568 (GRCm39) Q1035* probably null Het
Ryr3 A T 2: 112,493,608 (GRCm39) probably benign Het
Scaf8 T C 17: 3,236,145 (GRCm39) I544T probably damaging Het
Svep1 A T 4: 58,069,056 (GRCm39) V2910E possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Trpm7 A T 2: 126,655,104 (GRCm39) L1278H probably damaging Het
Tti2 G T 8: 31,645,858 (GRCm39) G391C probably damaging Het
Ttn C T 2: 76,778,363 (GRCm39) M1295I possibly damaging Het
Ttn T C 2: 76,554,313 (GRCm39) probably benign Het
Vmn1r170 G A 7: 23,306,338 (GRCm39) V247M probably damaging Het
Wdr48 T C 9: 119,734,455 (GRCm39) Y125H probably damaging Het
Wdtc1 C T 4: 133,036,225 (GRCm39) R105H probably benign Het
Zc3h11a A G 1: 133,549,880 (GRCm39) S699P probably benign Het
Zkscan14 C T 5: 145,132,419 (GRCm39) V371I probably benign Het
Zzef1 A T 11: 72,779,125 (GRCm39) Y1862F probably benign Het
Other mutations in Kars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Kars1 APN 8 112,721,606 (GRCm39) missense probably benign
IGL02439:Kars1 APN 8 112,724,268 (GRCm39) missense probably benign 0.09
IGL03240:Kars1 APN 8 112,732,271 (GRCm39) missense probably benign 0.02
IGL03399:Kars1 APN 8 112,734,926 (GRCm39) missense probably benign 0.25
LCD18:Kars1 UTSW 8 111,993,708 (GRCm38) critical splice acceptor site probably benign
R0325:Kars1 UTSW 8 112,734,848 (GRCm39) missense probably benign
R0570:Kars1 UTSW 8 112,721,494 (GRCm39) critical splice donor site probably null
R1566:Kars1 UTSW 8 112,724,290 (GRCm39) missense probably benign 0.01
R2023:Kars1 UTSW 8 112,728,484 (GRCm39) missense probably benign 0.02
R4690:Kars1 UTSW 8 112,729,216 (GRCm39) missense probably benign
R4839:Kars1 UTSW 8 112,729,158 (GRCm39) missense possibly damaging 0.75
R4946:Kars1 UTSW 8 112,728,352 (GRCm39) missense possibly damaging 0.81
R5716:Kars1 UTSW 8 112,730,074 (GRCm39) critical splice acceptor site probably null
R5882:Kars1 UTSW 8 112,730,057 (GRCm39) nonsense probably null
R6188:Kars1 UTSW 8 112,735,113 (GRCm39) critical splice donor site probably null
R6212:Kars1 UTSW 8 112,726,829 (GRCm39) splice site probably null
R6594:Kars1 UTSW 8 112,720,299 (GRCm39) unclassified probably benign
R7528:Kars1 UTSW 8 112,737,866 (GRCm39) missense probably benign 0.02
R8225:Kars1 UTSW 8 112,729,970 (GRCm39) missense probably benign
Posted On 2014-05-07