Incidental Mutation 'R8225:Kars1'
ID 636939
Institutional Source Beutler Lab
Gene Symbol Kars1
Ensembl Gene ENSMUSG00000031948
Gene Name lysyl-tRNA synthetase 1
Synonyms D8Ertd698e, LysRS, Kars, D8Wsu108e
MMRRC Submission 067642-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8225 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112729970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 136 (I136V)
Ref Sequence ENSEMBL: ENSMUSP00000090808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000093120] [ENSMUST00000164470] [ENSMUST00000211990]
AlphaFold Q99MN1
Predicted Effect probably benign
Transcript: ENSMUST00000034426
AA Change: I107V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: I107V

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: I136V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: I136V

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: I136V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: I136V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,865,597 (GRCm39) N82S probably benign Het
Ago3 A T 4: 126,247,532 (GRCm39) L595Q probably damaging Het
Bpifc T C 10: 85,836,431 (GRCm39) T25A probably benign Het
Bsn T A 9: 107,984,305 (GRCm39) T478S Het
Cacna1d A G 14: 29,844,990 (GRCm39) V720A probably benign Het
Cd109 G T 9: 78,568,972 (GRCm39) K350N probably damaging Het
Cdk6 C A 5: 3,440,790 (GRCm39) P115T probably benign Het
Clock T C 5: 76,389,759 (GRCm39) N363S probably damaging Het
Defa42 T C 8: 21,946,418 (GRCm39) D39G possibly damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dock10 T A 1: 80,481,447 (GRCm39) K517* probably null Het
Dynlt1a G T 17: 6,361,628 (GRCm39) Q71K probably damaging Het
Epb41l3 C T 17: 69,581,796 (GRCm39) T591I possibly damaging Het
Exosc10 G A 4: 148,649,661 (GRCm39) V364I possibly damaging Het
Fabp3-ps1 A G 10: 86,568,098 (GRCm39) I52T noncoding transcript Het
Fndc3a T C 14: 72,795,117 (GRCm39) Q766R probably benign Het
Gm10608 CACACACACAGA CA 9: 118,989,776 (GRCm39) probably null Het
Gm10645 C T 8: 83,892,467 (GRCm39) R80H unknown Het
Gpr146 A T 5: 139,378,371 (GRCm39) M58L probably benign Het
Gzf1 T A 2: 148,532,764 (GRCm39) F639L probably benign Het
Kcnj3 G A 2: 55,327,726 (GRCm39) V172M probably damaging Het
Kcnk10 A G 12: 98,406,849 (GRCm39) probably null Het
Nagpa C A 16: 5,016,724 (GRCm39) D334Y probably damaging Het
Nsun2 T C 13: 69,760,493 (GRCm39) I57T possibly damaging Het
Or5b107 A T 19: 13,142,507 (GRCm39) N43I probably damaging Het
Pax8 A T 2: 24,312,983 (GRCm39) L432Q probably damaging Het
Plxna4 A G 6: 32,139,038 (GRCm39) L1710P probably damaging Het
Prdm16 A G 4: 154,439,702 (GRCm39) probably null Het
Qrich2 A G 11: 116,344,894 (GRCm39) L1721P probably damaging Het
Sbsn TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG 7: 30,451,419 (GRCm39) probably benign Het
Sbsn T C 7: 30,451,869 (GRCm39) F295L probably benign Het
Slc4a7 C T 14: 14,738,224 (GRCm38) R153* probably null Het
Sult6b2 A T 6: 142,750,055 (GRCm39) M21K probably benign Het
Swt1 A C 1: 151,297,859 (GRCm39) S23A possibly damaging Het
Synm A C 7: 67,408,797 (GRCm39) S194A probably benign Het
Sytl2 G A 7: 90,024,725 (GRCm39) A238T probably benign Het
Tax1bp1 G A 6: 52,721,340 (GRCm39) probably null Het
Tfr2 G A 5: 137,569,725 (GRCm39) A74T possibly damaging Het
Tns1 G A 1: 74,025,046 (GRCm39) T389I probably damaging Het
Trpm2 C T 10: 77,783,807 (GRCm39) R222Q probably damaging Het
Trpm4 A G 7: 44,954,758 (GRCm39) C1094R probably benign Het
Ube2q2l A T 6: 136,378,110 (GRCm39) L240Q probably damaging Het
Uty T C Y: 1,158,634 (GRCm39) S471G probably benign Het
Vipr1 A T 9: 121,471,915 (GRCm39) M1L possibly damaging Het
Vps13b A G 15: 35,794,528 (GRCm39) R2313G probably damaging Het
Xrn1 T A 9: 95,917,720 (GRCm39) C1301S probably benign Het
Ythdc1 A T 5: 86,964,796 (GRCm39) S164C possibly damaging Het
Ythdc1 G T 5: 86,964,797 (GRCm39) S164I possibly damaging Het
Zbtb9 T A 17: 27,193,759 (GRCm39) I388N probably damaging Het
Zfp521 T C 18: 13,978,359 (GRCm39) I685V probably benign 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
R7528:Kars1 UTSW 8 112,737,866 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGTTTGAGGCCAGGCTAGG -3'
(R):5'- ACAAGCCACTGTGCTGTCTC -3'

Sequencing Primer
(F):5'- GCACACAGCAATATCTGGACTC -3'
(R):5'- ACTCCTGTAAGGTATTCTGTCATTG -3'
Posted On 2020-07-13