Incidental Mutation 'R8520:Ttk'
ID 658597
Institutional Source Beutler Lab
Gene Symbol Ttk
Ensembl Gene ENSMUSG00000038379
Gene Name Ttk protein kinase
Synonyms Mps1, Esk1
MMRRC Submission 067947-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8520 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 83716742-83754442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83739380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 484 (S484T)
Ref Sequence ENSEMBL: ENSMUSP00000064839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070326] [ENSMUST00000185913]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000070326
AA Change: S484T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: S484T

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 possibly damaging
Transcript: ENSMUST00000185913
AA Change: S484T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379
AA Change: S484T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,423 (GRCm39) F136L possibly damaging Het
A430033K04Rik T A 5: 138,644,968 (GRCm39) N284K possibly damaging Het
Abcb1a T C 5: 8,735,346 (GRCm39) I151T possibly damaging Het
Adam28 C T 14: 68,879,532 (GRCm39) G172D probably damaging Het
Adcy6 A G 15: 98,502,041 (GRCm39) V191A probably benign Het
Ankrd52 T C 10: 128,225,359 (GRCm39) L911P probably damaging Het
C5ar1 A G 7: 15,982,076 (GRCm39) S315P probably damaging Het
Cubn A G 2: 13,313,331 (GRCm39) probably null Het
Dlec1 T C 9: 118,941,277 (GRCm39) S276P probably benign Het
Dnah14 T A 1: 181,481,203 (GRCm39) I1564N probably damaging Het
Dsg2 G A 18: 20,712,508 (GRCm39) G171R probably damaging Het
Dusp13b C A 14: 21,793,538 (GRCm39) G208* probably null Het
Ebf3 A C 7: 136,802,853 (GRCm39) probably null Het
Fbn2 A T 18: 58,171,270 (GRCm39) probably null Het
Fbxo27 A G 7: 28,392,767 (GRCm39) D16G probably benign Het
G6pc3 A G 11: 102,083,934 (GRCm39) S187G probably benign Het
Gucy2d G A 7: 98,121,513 (GRCm39) V995I probably null Het
Hmcn2 C A 2: 31,244,726 (GRCm39) P728T probably damaging Het
Il1r2 T C 1: 40,144,499 (GRCm39) L62P probably damaging Het
Ints7 T C 1: 191,314,603 (GRCm39) S63P probably damaging Het
Lyset T A 12: 102,710,431 (GRCm39) probably null Het
Mcf2l C A 8: 12,930,089 (GRCm39) D36E probably benign Het
Mfsd13b T G 7: 120,590,586 (GRCm39) I109S probably benign Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Mydgf C A 17: 56,490,734 (GRCm39) probably null Het
Nanog A T 6: 122,690,475 (GRCm39) L268F possibly damaging Het
Or12j5 T A 7: 140,084,315 (GRCm39) D19V probably benign Het
Or14a259 A T 7: 86,013,471 (GRCm39) C25S probably benign Het
Otud4 T A 8: 80,385,896 (GRCm39) N256K probably damaging Het
P2rx1 A T 11: 72,899,779 (GRCm39) D128V probably benign Het
Pappa G A 4: 65,254,001 (GRCm39) V1552I probably benign Het
Pax8 A T 2: 24,333,034 (GRCm39) F103I probably damaging Het
Ptk2b T A 14: 66,412,204 (GRCm39) S396C probably damaging Het
Rnf148 A G 6: 23,654,169 (GRCm39) Y276H probably damaging Het
Sec11c A T 18: 65,947,911 (GRCm39) I93L probably damaging Het
Serpinb2 T A 1: 107,450,910 (GRCm39) N217K probably benign Het
Slc2a13 T A 15: 91,457,105 (GRCm39) T66S probably damaging Het
Slc4a3 T C 1: 75,526,506 (GRCm39) M9T probably benign Het
Sord G A 2: 122,087,423 (GRCm39) V176I possibly damaging Het
Thbs4 G A 13: 92,890,792 (GRCm39) Q892* probably null Het
Thsd7b T A 1: 129,849,157 (GRCm39) D956E probably benign Het
Topbp1 T A 9: 103,186,176 (GRCm39) probably null Het
Tst T C 15: 78,289,453 (GRCm39) E194G probably damaging Het
U2surp A G 9: 95,384,607 (GRCm39) S26P possibly damaging Het
Ugt2b37 C T 5: 87,388,714 (GRCm39) A500T probably benign Het
Utrn A T 10: 12,545,930 (GRCm39) Y1669* probably null Het
Vmn2r23 A T 6: 123,718,615 (GRCm39) Q656L probably damaging Het
Wdr7 A G 18: 64,120,231 (GRCm39) N1424S probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp984 T A 4: 147,840,668 (GRCm39) Y61F 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
R7715:Ttk UTSW 9 83,747,206 (GRCm39) missense probably benign 0.10
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
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'- GAGACCTTTGAGAAATTTGTCTCTG -3'
(R):5'- GGAGGATATGAGGCAGCTTTTC -3'

Sequencing Primer
(F):5'- ACTCCTCATTTATGTTTTGTTGGTG -3'
(R):5'- CAGCTTTTCTGGCTCCAGGG -3'
Posted On 2021-01-18