Incidental Mutation 'R7528:Kars1'
ID 583133
Institutional Source Beutler Lab
Gene Symbol Kars1
Ensembl Gene ENSMUSG00000031948
Gene Name lysyl-tRNA synthetase 1
Synonyms D8Ertd698e, LysRS, Kars, D8Wsu108e
MMRRC Submission 045600-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7528 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112737866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000034426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000052138] [ENSMUST00000071732] [ENSMUST00000093120] [ENSMUST00000164470] [ENSMUST00000211990]
AlphaFold Q99MN1
Predicted Effect probably benign
Transcript: ENSMUST00000034426
AA Change: D12G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: D12G

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: ENSMUST00000052138
SMART Domains Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430

DomainStartEndE-ValueType
Pfam:BRCT_2 17 100 1.4e-23 PFAM
Pfam:Myb_DNA-bind_2 129 193 3.9e-35 PFAM
low complexity region 279 298 N/A INTRINSIC
Pfam:Rap1_C 315 392 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071732
SMART Domains Protein: ENSMUSP00000128163
Gene: ENSMUSG00000092086

DomainStartEndE-ValueType
RRM 14 86 3.1e-26 SMART
RRM 105 177 8.1e-24 SMART
low complexity region 192 310 N/A INTRINSIC
low complexity region 321 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093120
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948

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
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948

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 probably benign
Transcript: ENSMUST00000211990
Meta Mutation Damage Score 0.0770 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,767,317 (GRCm39) E920G probably damaging Het
Acss2 A C 2: 155,399,066 (GRCm39) N443H probably damaging Het
Adam3 C A 8: 25,167,279 (GRCm39) A71S unknown Het
Agpat3 A G 10: 78,123,746 (GRCm39) L38P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Amtn C A 5: 88,526,711 (GRCm39) probably null Het
App T G 16: 84,775,146 (GRCm39) Y497S possibly damaging Het
Bphl T A 13: 34,244,473 (GRCm39) Y197N probably damaging Het
Btrc T A 19: 45,491,525 (GRCm39) M160K possibly damaging Het
Ccdc181 A C 1: 164,107,527 (GRCm39) N70T probably benign Het
Cd55b T C 1: 130,347,473 (GRCm39) N113D possibly damaging Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Dnah2 T C 11: 69,391,622 (GRCm39) H691R probably damaging Het
Dnajc13 A G 9: 104,056,164 (GRCm39) V1579A possibly damaging Het
Dst T A 1: 34,333,603 (GRCm39) F5030I probably damaging Het
Eppk1 G A 15: 76,004,308 (GRCm39) probably benign Het
Fbxw4 T C 19: 45,648,449 (GRCm39) E7G unknown Het
Fos T A 12: 85,522,432 (GRCm39) C154S probably damaging Het
Foxh1 A G 15: 76,553,511 (GRCm39) V97A probably benign Het
Gmeb1 G A 4: 131,959,361 (GRCm39) T231I possibly damaging Het
Golga3 T A 5: 110,360,098 (GRCm39) V1112E probably damaging Het
Gprin3 T C 6: 59,331,017 (GRCm39) D430G possibly damaging Het
Hpse2 T C 19: 42,801,463 (GRCm39) D441G probably damaging Het
Hydin G A 8: 111,107,204 (GRCm39) W460* probably null Het
Ifi204 T C 1: 173,579,406 (GRCm39) I480V probably benign Het
Impg2 T C 16: 56,080,743 (GRCm39) V849A possibly damaging Het
Klhdc7a A T 4: 139,694,828 (GRCm39) Y40N probably damaging Het
Krtap5-3 T C 7: 141,755,219 (GRCm39) C19R unknown Het
Macf1 G A 4: 123,325,852 (GRCm39) A5217V possibly damaging Het
Mlc1 A T 15: 88,858,710 (GRCm39) I146N possibly damaging Het
Myo3a A T 2: 22,270,925 (GRCm39) R129* probably null Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Or4k1 A G 14: 50,377,277 (GRCm39) V273A possibly damaging Het
Or56a3b T C 7: 104,771,071 (GRCm39) Y136H probably damaging Het
Pard3 G A 8: 128,329,646 (GRCm39) R1214H probably damaging Het
Phf20 T A 2: 156,144,928 (GRCm39) Y845* probably null Het
Pik3c2a A G 7: 115,993,474 (GRCm39) I431T probably damaging Het
Plxna2 A G 1: 194,494,464 (GRCm39) S1894G probably damaging Het
Ppp1r7 C T 1: 93,282,123 (GRCm39) Q225* probably null Het
Ppp4r1 C A 17: 66,120,493 (GRCm39) T209K probably damaging Het
Prc1 T C 7: 79,950,183 (GRCm39) probably null Het
Prex2 T G 1: 11,274,316 (GRCm39) D1329E probably damaging Het
Ptch1 C T 13: 63,659,528 (GRCm39) R1375H probably benign Het
Rab24 A T 13: 55,468,921 (GRCm39) C87S probably damaging Het
Rnf43 A T 11: 87,622,954 (GRCm39) Y558F probably benign Het
Serpinb6e T C 13: 34,016,474 (GRCm39) I420V possibly damaging Het
Slain2 C A 5: 73,072,143 (GRCm39) S59* probably null Het
Slfn3 A G 11: 83,105,731 (GRCm39) D576G probably benign Het
Sptbn4 A G 7: 27,141,960 (GRCm39) M11T probably benign Het
Tdh T C 14: 63,731,460 (GRCm39) D238G probably damaging Het
Top2b T A 14: 16,395,427 (GRCm38) Y337* probably null Het
Trav15-2-dv6-2 A C 14: 53,887,308 (GRCm39) Y76S probably benign Het
Vmn1r172 G T 7: 23,359,189 (GRCm39) G25C probably damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null Het
Vps13d T C 4: 144,818,492 (GRCm39) E3125G Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp142 T C 1: 74,610,061 (GRCm39) T1245A probably benign Het
Zfp960 C T 17: 17,307,825 (GRCm39) H180Y 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
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
R8225:Kars1 UTSW 8 112,729,970 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACGGCACTGCATCTCTGTC -3'
(R):5'- CCCCGCTGTACAAGTAAAGC -3'

Sequencing Primer
(F):5'- GCATCTCTGTCCCAGCATGTG -3'
(R):5'- CGACCTGGAAGTTCTAGTTC -3'
Posted On 2019-10-17