Incidental Mutation 'R4419:Ky'
ID 327004
Institutional Source Beutler Lab
Gene Symbol Ky
Ensembl Gene ENSMUSG00000035606
Gene Name kyphoscoliosis peptidase
Synonyms D9Mgc44e
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 102382954-102423443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102419909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 639 (V639I)
Ref Sequence ENSEMBL: ENSMUSP00000036032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039390]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039390
AA Change: V639I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: V639I

DomainStartEndE-ValueType
TGc 217 285 1.9e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P probably benign 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
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
R5529:Ky UTSW 9 102,419,274 (GRCm39) missense probably benign 0.10
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'- TCCCTGAGAGCTTTGGCAAC -3'
(R):5'- AGAGGCCTAGAAGTGGTTTCATG -3'

Sequencing Primer
(F):5'- GGACAATGAACTGCTAGAGCCTCTC -3'
(R):5'- CCTAGAAGTGGTTTCATGCAGATTAG -3'
Posted On 2015-07-07