Incidental Mutation 'R2023:Kars1'
ID 220136
Institutional Source Beutler Lab
Gene Symbol Kars1
Ensembl Gene ENSMUSG00000031948
Gene Name lysyl-tRNA synthetase 1
Synonyms D8Ertd698e, LysRS, Kars, D8Wsu108e
MMRRC Submission 040032-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2023 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112728484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 200 (N200S)
Ref Sequence ENSEMBL: ENSMUSP00000126268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000093120] [ENSMUST00000164470] [ENSMUST00000211990]
AlphaFold Q99MN1
Predicted Effect probably benign
Transcript: ENSMUST00000034426
AA Change: N171S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: N171S

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 benign
Transcript: ENSMUST00000093120
AA Change: N200S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: N200S

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 benign
Transcript: ENSMUST00000164470
AA Change: N200S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: N200S

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 probably benign
Transcript: ENSMUST00000211990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212693
Meta Mutation Damage Score 0.2708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 97% (60/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,247 (GRCm39) S447P possibly damaging Het
9930111J21Rik2 A G 11: 48,911,144 (GRCm39) F430L probably benign Het
Acap2 A G 16: 30,938,233 (GRCm39) V297A probably damaging Het
Adam3 G A 8: 25,179,479 (GRCm39) R613C possibly damaging Het
Akt1 C T 12: 112,626,071 (GRCm39) R67Q probably benign Het
Ambp T C 4: 63,069,702 (GRCm39) Y108C probably damaging Het
Apob A G 12: 8,061,090 (GRCm39) I3158V probably benign Het
Bank1 T C 3: 136,031,679 (GRCm39) T8A probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc88a G T 11: 29,413,546 (GRCm39) E695* probably null Het
Cep68 A C 11: 20,189,888 (GRCm39) S375A probably benign Het
Cfap44 A G 16: 44,236,375 (GRCm39) I417V probably benign Het
Chrna2 T A 14: 66,379,677 (GRCm39) H5Q probably benign Het
Cog7 A T 7: 121,536,193 (GRCm39) I549K probably damaging Het
Col28a1 C A 6: 8,083,783 (GRCm39) S558I possibly damaging Het
Cyp4f14 A G 17: 33,125,505 (GRCm39) I385T probably damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm5616 A G 9: 48,361,928 (GRCm39) noncoding transcript Het
Gm5709 T C 3: 59,543,142 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Itpr3 T A 17: 27,321,785 (GRCm39) M1054K possibly damaging Het
Kdm2a C A 19: 4,372,492 (GRCm39) R951L probably damaging Het
Ldhd T A 8: 112,356,578 (GRCm39) H61L probably damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Micall2 A G 5: 139,703,266 (GRCm39) V190A possibly damaging Het
Mis18bp1 A T 12: 65,195,883 (GRCm39) V627E probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nox3 A G 17: 3,744,296 (GRCm39) probably benign Het
Or4b1d G T 2: 89,969,200 (GRCm39) C94* probably null Het
Or5p63 A G 7: 107,811,049 (GRCm39) L229P probably damaging Het
Or6c1b T A 10: 129,273,451 (GRCm39) Y257N probably damaging Het
Osbpl2 C A 2: 179,791,969 (GRCm39) probably null Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Pgr T A 9: 8,958,399 (GRCm39) V802D probably damaging Het
Pgs1 A G 11: 117,893,228 (GRCm39) E55G probably benign Het
Pkd2 T A 5: 104,614,744 (GRCm39) probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Ptprd C T 4: 75,875,341 (GRCm39) E1240K probably damaging Het
Recql5 G A 11: 115,784,466 (GRCm39) T878I probably benign Het
Rnf17 A G 14: 56,669,036 (GRCm39) D233G possibly damaging Het
Sectm1a A G 11: 120,960,408 (GRCm39) probably benign Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Srcin1 A G 11: 97,416,872 (GRCm39) S931P probably benign Het
Tcof1 C T 18: 60,966,605 (GRCm39) G329R probably damaging Het
Thsd7a G A 6: 12,327,535 (GRCm39) H1446Y probably benign Het
Tlr11 A G 14: 50,600,026 (GRCm39) T671A probably damaging Het
Tmem171 C A 13: 98,828,733 (GRCm39) W139L probably damaging Het
Vmn2r101 C T 17: 19,810,368 (GRCm39) R385* probably null Het
Vps13c A T 9: 67,843,567 (GRCm39) probably benign Het
Wdr87-ps G T 7: 29,230,959 (GRCm39) noncoding transcript Het
Zfp287 A C 11: 62,605,808 (GRCm39) Y366* probably null Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp523 A G 17: 28,419,978 (GRCm39) probably benign Het
Zfp667 A C 7: 6,308,416 (GRCm39) K361N possibly damaging Het
Other mutations in Kars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Kars1 APN 8 112,721,606 (GRCm39) missense probably benign
IGL02005:Kars1 APN 8 112,726,736 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TCTGTGATGGCTACAGGAGG -3'
(R):5'- GAAGGTTTCCTGAGTGAGACAG -3'

Sequencing Primer
(F):5'- CGCGCATCCGAGATCAG -3'
(R):5'- CTGGCTCTGCGGGAAGATTTC -3'
Posted On 2014-08-25