Incidental Mutation 'IGL03240:Kars1'
ID 414255
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 # IGL03240
Quality Score
Status
Chromosome 8
Chromosomal Location 112720075-112737955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112732271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 99 (D99G)
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: D70G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: D70G

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: D99G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: D99G

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: D99G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: D99G

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
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
1700003H04Rik T C 3: 124,350,365 (GRCm39) probably benign Het
AA467197 A G 2: 122,481,182 (GRCm39) T57A probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Bltp3a C A 17: 28,112,227 (GRCm39) N1167K probably benign Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Hadh T C 3: 131,042,192 (GRCm39) S98G probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mmp21 G T 7: 133,276,300 (GRCm39) H514Q probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L probably 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
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 2016-08-02