Incidental Mutation 'IGL02197:Ky'
ID284087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ky
Ensembl Gene ENSMUSG00000035606
Gene Namekyphoscoliosis peptidase
SynonymsD9Mgc44e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.497) question?
Stock #IGL02197
Quality Score
Status
Chromosome9
Chromosomal Location102505750-102546239 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102537786 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 299 (F299S)
Ref Sequence ENSEMBL: ENSMUSP00000036032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039390]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039390
AA Change: F299S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: F299S

DomainStartEndE-ValueType
TGc 217 285 1.9e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,906,735 T445A probably damaging Het
Arhgap21 T C 2: 20,880,306 S526G probably benign Het
Atad2b A T 12: 5,018,056 N1018I possibly damaging Het
Baz1b A G 5: 135,209,097 E209G probably benign Het
Capn11 T A 17: 45,639,856 T264S probably benign Het
Cdh1 A G 8: 106,653,786 E187G probably benign Het
Cps1 A G 1: 67,157,764 I325V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dmbt1 A G 7: 131,085,422 probably benign Het
Dnaaf3 T C 7: 4,527,497 D203G probably damaging Het
Dscr3 G T 16: 94,501,690 probably benign Het
Eif2ak3 A G 6: 70,901,457 Y1045C probably benign Het
Fam13a T A 6: 58,935,601 D689V possibly damaging Het
Fnip1 T A 11: 54,493,374 L342I probably damaging Het
Frk T A 10: 34,484,334 N110K probably damaging Het
Gm5134 T C 10: 75,954,702 probably null Het
Gm53 T C 11: 96,251,723 noncoding transcript Het
Gm9312 A T 12: 24,252,162 noncoding transcript Het
Gm9936 A G 5: 114,857,091 probably benign Het
Hk3 A G 13: 55,014,468 F108L probably damaging Het
Homer2 A T 7: 81,610,399 S296T probably benign Het
Itga2b T A 11: 102,466,319 H245L probably benign Het
Lama5 A G 2: 180,207,219 Y224H possibly damaging Het
Leng9 G T 7: 4,148,724 L318I probably damaging Het
Lpin1 A G 12: 16,558,407 probably null Het
Lrp2 T C 2: 69,466,880 I3246V probably benign Het
Map2k3 A G 11: 60,946,764 Y230C probably damaging Het
Myef2 T C 2: 125,114,039 probably null Het
Myh3 A T 11: 67,098,583 I1510L probably benign Het
Mypn T C 10: 63,123,278 D1088G possibly damaging Het
Nek9 C A 12: 85,307,930 V745L probably null Het
Neu1 T A 17: 34,934,665 V355D possibly damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr1212 A G 2: 88,958,684 T73A probably benign Het
Olfr49 T C 14: 54,281,952 *314W probably null Het
Papola A T 12: 105,829,183 N631I possibly damaging Het
Pcnx T C 12: 81,919,104 S682P probably benign Het
Pcnx T C 12: 81,993,151 S2071P possibly damaging Het
Pga5 A G 19: 10,671,913 probably benign Het
Phlda1 T A 10: 111,507,153 M250K probably damaging Het
Phox2b A G 5: 67,096,526 probably benign Het
Pkdrej A G 15: 85,815,793 Y1981H possibly damaging Het
Pold1 G A 7: 44,542,239 P108S probably benign Het
Ptprg T G 14: 12,220,613 F442V probably damaging Het
Rab36 A G 10: 75,052,042 I248M probably damaging Het
Scnn1b G A 7: 121,902,890 R257Q probably null Het
Sdc1 A G 12: 8,790,835 Q200R possibly damaging Het
Slc10a7 A G 8: 78,515,663 T60A probably damaging Het
Snx13 A G 12: 35,106,801 D484G probably damaging Het
Tlr1 G A 5: 64,926,454 T260M probably damaging Het
Tpcn1 A G 5: 120,553,531 V286A probably damaging Het
Traip T G 9: 107,968,737 L343R possibly damaging Het
Unc13b A G 4: 43,165,828 H204R probably damaging Het
Unc80 A G 1: 66,530,065 S960G probably benign Het
V1ra8 C T 6: 90,203,202 P129L probably benign Het
Vps13b T A 15: 35,930,056 F3980I probably benign Het
Vps13d T C 4: 145,128,309 N2248S probably benign Het
Wnk4 T C 11: 101,263,957 L324P probably damaging Het
Other mutations in Ky
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Ky APN 9 102542105 missense probably benign
PIT4802001:Ky UTSW 9 102537773 missense probably benign 0.00
R0384:Ky UTSW 9 102542090 missense probably benign 0.05
R0620:Ky UTSW 9 102537621 missense probably benign 0.04
R1099:Ky UTSW 9 102537724 missense probably damaging 1.00
R1754:Ky UTSW 9 102541927 missense possibly damaging 0.54
R2075:Ky UTSW 9 102542746 missense probably damaging 0.98
R2322:Ky UTSW 9 102537791 critical splice donor site probably null
R2415:Ky UTSW 9 102541891 missense probably damaging 1.00
R3950:Ky UTSW 9 102542428 nonsense probably null
R4419:Ky UTSW 9 102542710 missense probably damaging 1.00
R4786:Ky UTSW 9 102541987 missense probably benign 0.02
R5261:Ky UTSW 9 102537599 critical splice acceptor site probably null
R5529:Ky UTSW 9 102542075 missense probably benign 0.10
R6857:Ky UTSW 9 102542432 missense probably damaging 1.00
R6931:Ky UTSW 9 102537627 missense probably damaging 1.00
R7205:Ky UTSW 9 102542292 missense probably damaging 1.00
R7211:Ky UTSW 9 102509150 missense probably benign 0.08
R7570:Ky UTSW 9 102542329 missense probably benign 0.00
R7642:Ky UTSW 9 102542270 missense probably benign 0.32
R7644:Ky UTSW 9 102537773 missense probably benign 0.00
R7910:Ky UTSW 9 102541942 missense possibly damaging 0.54
Posted On2015-04-16