Incidental Mutation 'R5529:Ky'
ID 433586
Institutional Source Beutler Lab
Gene Symbol Ky
Ensembl Gene ENSMUSG00000035606
Gene Name kyphoscoliosis peptidase
Synonyms D9Mgc44e
MMRRC Submission 043087-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R5529 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 102382954-102423443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102419274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 427 (S427L)
Ref Sequence ENSEMBL: ENSMUSP00000036032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039390]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039390
AA Change: S427L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: S427L

DomainStartEndE-ValueType
TGc 217 285 1.9e-14 SMART
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,304,040 (GRCm39) Y2079C probably damaging Het
Alg2 T C 4: 47,472,101 (GRCm39) R236G probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
F12 T C 13: 55,569,872 (GRCm39) N102S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Setd5 T C 6: 113,098,529 (GRCm39) Y721H probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zbtb40 A G 4: 136,710,474 (GRCm39) F1222L possibly damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G probably damaging Het
Other mutations in Ky
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Ky APN 9 102,419,304 (GRCm39) missense probably benign
IGL02197:Ky APN 9 102,414,985 (GRCm39) missense possibly damaging 0.63
PIT4802001:Ky UTSW 9 102,414,972 (GRCm39) missense probably benign 0.00
R0384:Ky UTSW 9 102,419,289 (GRCm39) missense probably benign 0.05
R0620:Ky UTSW 9 102,414,820 (GRCm39) missense probably benign 0.04
R1099:Ky UTSW 9 102,414,923 (GRCm39) missense probably damaging 1.00
R1754:Ky UTSW 9 102,419,126 (GRCm39) missense possibly damaging 0.54
R2075:Ky UTSW 9 102,419,945 (GRCm39) missense probably damaging 0.98
R2322:Ky UTSW 9 102,414,990 (GRCm39) critical splice donor site probably null
R2415:Ky UTSW 9 102,419,090 (GRCm39) missense probably damaging 1.00
R3950:Ky UTSW 9 102,419,627 (GRCm39) nonsense probably null
R4419:Ky UTSW 9 102,419,909 (GRCm39) missense probably damaging 1.00
R4786:Ky UTSW 9 102,419,186 (GRCm39) missense probably benign 0.02
R5261:Ky UTSW 9 102,414,798 (GRCm39) critical splice acceptor site probably null
R6857:Ky UTSW 9 102,419,631 (GRCm39) missense probably damaging 1.00
R6931:Ky UTSW 9 102,414,826 (GRCm39) missense probably damaging 1.00
R7205:Ky UTSW 9 102,419,491 (GRCm39) missense probably damaging 1.00
R7211:Ky UTSW 9 102,386,349 (GRCm39) missense probably benign 0.08
R7570:Ky UTSW 9 102,419,528 (GRCm39) missense probably benign 0.00
R7642:Ky UTSW 9 102,419,469 (GRCm39) missense probably benign 0.32
R7644:Ky UTSW 9 102,414,972 (GRCm39) missense probably benign 0.00
R7910:Ky UTSW 9 102,419,141 (GRCm39) missense possibly damaging 0.54
R7988:Ky UTSW 9 102,402,614 (GRCm39) missense probably damaging 1.00
R8708:Ky UTSW 9 102,402,590 (GRCm39) splice site probably benign
R8726:Ky UTSW 9 102,405,102 (GRCm39) missense probably damaging 1.00
R9146:Ky UTSW 9 102,419,405 (GRCm39) missense
R9709:Ky UTSW 9 102,419,411 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGTCAATGGGAAAGCCAC -3'
(R):5'- TCATCGCCATGAAGGGATG -3'

Sequencing Primer
(F):5'- CAATCACCATCGAGAGCCGG -3'
(R):5'- TTCCACGCTAAAGCTGATGG -3'
Posted On 2016-10-06