Incidental Mutation 'R7715:Ttk'
ID 594859
Institutional Source Beutler Lab
Gene Symbol Ttk
Ensembl Gene ENSMUSG00000038379
Gene Name Ttk protein kinase
Synonyms Mps1, Esk1
MMRRC Submission 045773-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7715 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 83716742-83754442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83747206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 682 (T682A)
Ref Sequence ENSEMBL: ENSMUSP00000064839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070326] [ENSMUST00000185913]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070326
AA Change: T682A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: T682A

DomainStartEndE-ValueType
PDB:4B94|D 55 235 7e-97 PDB
low complexity region 459 487 N/A INTRINSIC
S_TKc 498 764 1.14e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185913
SMART Domains Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379

DomainStartEndE-ValueType
PDB:4B94|D 55 235 2e-97 PDB
low complexity region 459 487 N/A INTRINSIC
Pfam:Pkinase 498 661 7.9e-36 PFAM
Pfam:Pkinase_Tyr 498 661 6.8e-15 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a floxed allele activated in oocytes exhibit reduced female fertility associated with defective spindle assembly checkpoint, premature chromosome segregation, and accelerated anaphase and polar body extrusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,659 (GRCm39) F57L probably benign Het
Agl C T 3: 116,551,905 (GRCm39) R563Q Het
Ahctf1 A G 1: 179,598,413 (GRCm39) M919T probably benign Het
Ano4 A T 10: 88,831,173 (GRCm39) N483K probably damaging Het
Armt1 A G 10: 4,400,751 (GRCm39) K166R probably benign Het
Asgr2 T C 11: 69,987,721 (GRCm39) V73A probably benign Het
Atp6v0a2 A C 5: 124,791,262 (GRCm39) T564P probably damaging Het
B3gntl1 T C 11: 121,530,622 (GRCm39) T150A possibly damaging Het
Bach1 A G 16: 87,516,859 (GRCm39) I467V possibly damaging Het
Bicd1 A G 6: 149,414,471 (GRCm39) K395E probably benign Het
Cadps G A 14: 12,457,762 (GRCm38) P1040S probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Canx A G 11: 50,201,631 (GRCm39) S80P probably benign Het
Ccdc149 T A 5: 52,561,533 (GRCm39) probably null Het
Cd34 A T 1: 194,631,624 (GRCm39) N87Y probably damaging Het
Cdh11 T A 8: 103,391,346 (GRCm39) I297F possibly damaging Het
Cfap251 A G 5: 123,400,197 (GRCm39) N439D probably damaging Het
Cip2a A T 16: 48,834,347 (GRCm39) Q643L probably damaging Het
Col14a1 A G 15: 55,351,379 (GRCm39) I1569V unknown Het
Cxcr4 C T 1: 128,517,479 (GRCm39) V61M probably damaging Het
Cyp20a1 G A 1: 60,411,764 (GRCm39) V271M probably benign Het
Cyp2b23 T C 7: 26,381,120 (GRCm39) Y79C probably benign Het
Daam1 A G 12: 72,035,675 (GRCm39) K957E probably benign Het
Dip2c A G 13: 9,664,427 (GRCm39) K947E probably damaging Het
Efcab12 T C 6: 115,800,504 (GRCm39) K173R possibly damaging Het
Emc1 C T 4: 139,098,934 (GRCm39) R806C probably damaging Het
Epg5 G A 18: 78,011,801 (GRCm39) R816Q probably damaging Het
Faf1 G T 4: 109,568,011 (GRCm39) D24Y probably damaging Het
Fchsd1 A T 18: 38,099,695 (GRCm39) probably null Het
Foxp1 T C 6: 98,922,621 (GRCm39) T404A unknown Het
Fra10ac1 T C 19: 38,178,286 (GRCm39) E299G probably damaging Het
Gon4l A G 3: 88,815,313 (GRCm39) T1959A probably benign Het
Gpam A C 19: 55,077,353 (GRCm39) V146G probably benign Het
Hephl1 T A 9: 14,972,081 (GRCm39) D953V probably benign Het
Kcnc2 G T 10: 112,107,845 (GRCm39) E79* probably null Het
Kcnj12 T A 11: 60,957,778 (GRCm39) probably null Het
Llgl2 A T 11: 115,740,554 (GRCm39) T417S probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Macc1 C T 12: 119,409,991 (GRCm39) A253V possibly damaging Het
Mark1 A G 1: 184,639,431 (GRCm39) S529P probably damaging Het
Mfsd6l T C 11: 68,448,376 (GRCm39) L409P probably damaging Het
Nek1 A G 8: 61,459,794 (GRCm39) E34G probably damaging Het
Nlrp3 T A 11: 59,433,829 (GRCm39) probably null Het
Obsl1 A T 1: 75,478,680 (GRCm39) V686D probably damaging Het
Or2l5 C T 16: 19,333,480 (GRCm39) R302K probably benign Het
Or55b10 T A 7: 102,143,668 (GRCm39) M105L possibly damaging Het
Or7h8 G A 9: 20,123,731 (GRCm39) G29R probably damaging Het
Or7h8 G A 9: 20,123,732 (GRCm39) G29E probably benign Het
Or8c15 T A 9: 38,120,775 (GRCm39) M140K probably benign Het
Or8g18 A T 9: 39,149,174 (GRCm39) L182H probably damaging Het
Ostm1 G A 10: 42,559,183 (GRCm39) G148R probably benign Het
Oxsr1 A G 9: 119,071,822 (GRCm39) S470P probably damaging Het
Pacs1 C T 19: 5,191,709 (GRCm39) M709I probably benign Het
Pan2 A G 10: 128,153,592 (GRCm39) M963V probably benign Het
Pds5a A G 5: 65,795,904 (GRCm39) L662P possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sh2b2 T C 5: 136,247,889 (GRCm39) N554S probably benign Het
Sh3gl2 T A 4: 85,317,077 (GRCm39) probably null Het
Slc24a4 A G 12: 102,185,219 (GRCm39) M93V possibly damaging Het
Sohlh1 A G 2: 25,734,640 (GRCm39) S218P possibly damaging Het
Spast T A 17: 74,675,921 (GRCm39) N321K probably benign Het
Srcap T G 7: 127,148,460 (GRCm39) I1936S probably damaging Het
Themis G A 10: 28,739,305 (GRCm39) V592I probably benign Het
Tnfrsf1a C T 6: 125,338,377 (GRCm39) T296I possibly damaging Het
Virma C T 4: 11,549,682 (GRCm39) R1807W probably damaging Het
Virma A G 4: 11,513,016 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,177 (GRCm39) D724E probably damaging Het
Vmn2r11 A G 5: 109,195,307 (GRCm39) V673A probably damaging Het
Wbp4 C T 14: 79,703,734 (GRCm39) S271N probably benign Het
Other mutations in Ttk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00721:Ttk APN 9 83,745,501 (GRCm39) missense probably damaging 1.00
IGL01298:Ttk APN 9 83,747,195 (GRCm39) missense probably benign 0.27
IGL02806:Ttk APN 9 83,744,540 (GRCm39) nonsense probably null
IGL03080:Ttk APN 9 83,725,136 (GRCm39) missense probably damaging 1.00
R0396:Ttk UTSW 9 83,729,313 (GRCm39) unclassified probably benign
R0507:Ttk UTSW 9 83,750,120 (GRCm39) missense probably damaging 0.97
R0827:Ttk UTSW 9 83,725,968 (GRCm39) missense probably benign
R1077:Ttk UTSW 9 83,726,202 (GRCm39) unclassified probably benign
R1730:Ttk UTSW 9 83,750,645 (GRCm39) missense possibly damaging 0.86
R1844:Ttk UTSW 9 83,736,915 (GRCm39) missense possibly damaging 0.55
R1856:Ttk UTSW 9 83,751,316 (GRCm39) missense probably damaging 1.00
R1941:Ttk UTSW 9 83,735,179 (GRCm39) missense probably benign 0.22
R2191:Ttk UTSW 9 83,744,236 (GRCm39) missense probably damaging 0.99
R3737:Ttk UTSW 9 83,736,890 (GRCm39) missense possibly damaging 0.88
R4035:Ttk UTSW 9 83,736,890 (GRCm39) missense possibly damaging 0.88
R4903:Ttk UTSW 9 83,747,201 (GRCm39) missense probably benign 0.42
R4908:Ttk UTSW 9 83,725,739 (GRCm39) missense possibly damaging 0.96
R4966:Ttk UTSW 9 83,747,201 (GRCm39) missense probably benign 0.42
R5023:Ttk UTSW 9 83,745,594 (GRCm39) missense probably damaging 1.00
R5197:Ttk UTSW 9 83,721,394 (GRCm39) missense probably benign
R5567:Ttk UTSW 9 83,744,588 (GRCm39) missense possibly damaging 0.94
R6022:Ttk UTSW 9 83,721,375 (GRCm39) missense probably damaging 1.00
R6900:Ttk UTSW 9 83,754,083 (GRCm39) missense probably damaging 0.96
R7039:Ttk UTSW 9 83,750,145 (GRCm39) missense probably damaging 1.00
R7373:Ttk UTSW 9 83,736,930 (GRCm39) missense probably benign 0.00
R7846:Ttk UTSW 9 83,725,732 (GRCm39) missense probably benign 0.27
R8189:Ttk UTSW 9 83,729,272 (GRCm39) missense probably benign 0.38
R8520:Ttk UTSW 9 83,739,380 (GRCm39) missense possibly damaging 0.93
R8880:Ttk UTSW 9 83,751,304 (GRCm39) missense probably damaging 1.00
R8903:Ttk UTSW 9 83,750,113 (GRCm39) missense probably damaging 1.00
R8919:Ttk UTSW 9 83,721,322 (GRCm39) missense probably damaging 1.00
R9105:Ttk UTSW 9 83,745,544 (GRCm39) missense probably damaging 1.00
R9142:Ttk UTSW 9 83,725,741 (GRCm39) missense probably damaging 0.99
R9434:Ttk UTSW 9 83,750,143 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTACCTGGGATGGGATAGTAC -3'
(R):5'- AGAAACTGGGCCCCTGATAAG -3'

Sequencing Primer
(F):5'- CCTGGGATGGGATAGTACATACATTC -3'
(R):5'- CTGATAAGGGACATCAGGGAAGC -3'
Posted On 2019-11-12