Incidental Mutation 'IGL03240:Kars'
ID414255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kars
Ensembl Gene ENSMUSG00000031948
Gene Namelysyl-tRNA synthetase
SynonymsLysRS, D8Ertd698e, D8Wsu108e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03240
Quality Score
Status
Chromosome8
Chromosomal Location111993443-112011323 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112005639 bp
ZygosityHeterozygous
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]
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: 124,556,716 probably benign Het
AA467197 A G 2: 122,639,262 T57A probably benign Het
Akap11 A T 14: 78,495,905 D1852E probably damaging Het
Arg2 T A 12: 79,131,831 probably null Het
Arhgef4 A G 1: 34,806,026 D1437G probably benign Het
AW551984 C A 9: 39,589,122 R780L probably benign Het
Baz1a T A 12: 54,927,567 K503* probably null Het
Cdk2ap1 A T 5: 124,346,144 H96Q probably damaging Het
Col11a1 T A 3: 114,217,210 probably null Het
Col12a1 A T 9: 79,678,383 probably null Het
Col22a1 G A 15: 71,807,928 P877S unknown Het
Col7a1 A T 9: 108,968,373 N1681Y probably null Het
Dennd1b T G 1: 139,139,392 S398A possibly damaging Het
Fam126b A G 1: 58,529,917 L501P probably damaging Het
Fam129b A C 2: 32,922,097 Y397S probably benign Het
Fgd2 C T 17: 29,361,161 probably benign Het
Hadh T C 3: 131,248,543 S98G probably benign Het
Has2 C T 15: 56,668,260 R353H probably damaging Het
Heg1 T C 16: 33,727,413 S857P probably benign Het
Hemgn T A 4: 46,400,732 R43* probably null Het
Htr4 A T 18: 62,437,621 H249L possibly damaging Het
Iqgap3 T C 3: 88,114,974 S495P probably benign Het
Krt40 T A 11: 99,537,568 S333C probably damaging Het
Lamc2 T C 1: 153,124,125 I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 I268N probably damaging Het
Mmp21 G T 7: 133,674,571 H514Q probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 T495A possibly damaging Het
Myo10 T A 15: 25,701,602 V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 S49P probably benign Het
Ncoa2 G A 1: 13,177,092 S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 K309* probably null Het
Pon2 A G 6: 5,265,316 probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Psmd6 A G 14: 14,112,393 probably benign Het
Ptprk G T 10: 28,492,961 R643L probably damaging Het
Ptprq T A 10: 107,688,507 Y455F probably benign Het
Sec23b G A 2: 144,566,759 probably benign Het
Sh3pxd2a A G 19: 47,268,026 L751P probably damaging Het
Snx6 T A 12: 54,783,443 H77L probably damaging Het
Svep1 C A 4: 58,048,188 C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 E50D probably damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 V352E probably benign Het
Tulp2 T G 7: 45,522,310 F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 V514A probably benign Het
Vps13c T C 9: 67,955,047 V2982A probably benign Het
Ywhaq T C 12: 21,395,000 T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 H64L probably damaging Het
Other mutations in Kars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Kars APN 8 111994974 missense probably benign
IGL02005:Kars APN 8 112000104 nonsense probably null
IGL02439:Kars APN 8 111997636 missense probably benign 0.09
IGL03399:Kars APN 8 112008294 missense probably benign 0.25
LCD18:Kars UTSW 8 111993708 critical splice acceptor site probably benign
R0325:Kars UTSW 8 112008216 missense probably benign
R0570:Kars UTSW 8 111994862 critical splice donor site probably null
R1566:Kars UTSW 8 111997658 missense probably benign 0.01
R2023:Kars UTSW 8 112001852 missense probably benign 0.02
R4690:Kars UTSW 8 112002584 missense probably benign
R4839:Kars UTSW 8 112002526 missense possibly damaging 0.75
R4946:Kars UTSW 8 112001720 missense possibly damaging 0.81
R5716:Kars UTSW 8 112003442 critical splice acceptor site probably null
R5882:Kars UTSW 8 112003425 nonsense probably null
R6188:Kars UTSW 8 112008481 critical splice donor site probably null
R6212:Kars UTSW 8 112000197 splice site probably null
R6594:Kars UTSW 8 111993667 unclassified probably benign
R7528:Kars UTSW 8 112011234 missense probably benign 0.02
R8225:Kars UTSW 8 112003338 missense probably benign
Posted On2016-08-02