Incidental Mutation 'R6594:Kars1'
ID 524781
Institutional Source Beutler Lab
Gene Symbol Kars1
Ensembl Gene ENSMUSG00000031948
Gene Name lysyl-tRNA synthetase 1
Synonyms D8Ertd698e, LysRS, Kars, D8Wsu108e
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6594 (G1)
Quality Score 146.008
Status Validated
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 112720299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000034427] [ENSMUST00000093120] [ENSMUST00000120457] [ENSMUST00000139820] [ENSMUST00000164470]
AlphaFold Q99MN1
Predicted Effect unknown
Transcript: ENSMUST00000034426
AA Change: K577E
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: K577E

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: ENSMUST00000034427
SMART Domains Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949

DomainStartEndE-ValueType
ADEAMc 2 499 4.19e-176 SMART
Predicted Effect unknown
Transcript: ENSMUST00000093120
AA Change: K606E
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: K606E

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: ENSMUST00000120457
SMART Domains Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949

DomainStartEndE-ValueType
Pfam:A_deamin 63 354 8.1e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139820
SMART Domains Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949

DomainStartEndE-ValueType
ADEAMc 2 453 1e-141 SMART
Predicted Effect unknown
Transcript: ENSMUST00000164470
AA Change: K606E
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: K606E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G 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
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'- AGTAACACTGCATGGGTAAAGA -3'
(R):5'- TGTAACATCAGGCAACAGCA -3'

Sequencing Primer
(F):5'- TGGTAACGAGGAATAAAAAGAACTTC -3'
(R):5'- CCATAGTGCCCTGTTATTGAAAGGC -3'
Posted On 2018-06-22