Incidental Mutation 'IGL01298:Ttk'
ID 73207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttk
Ensembl Gene ENSMUSG00000038379
Gene Name Ttk protein kinase
Synonyms Mps1, Esk1
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01298
Quality Score
Status
Chromosome 9
Chromosomal Location 83716742-83754442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83747195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 678 (S678L)
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: S678L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: S678L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188445
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,169,326 (GRCm39) W263C probably damaging Het
Agtpbp1 G A 13: 59,652,040 (GRCm39) H424Y possibly damaging Het
Angpt2 T G 8: 18,760,544 (GRCm39) N186T probably benign Het
Ank2 A G 3: 126,753,369 (GRCm39) V304A possibly damaging Het
Atg3 T C 16: 44,992,036 (GRCm39) M88T possibly damaging Het
Baz1a G T 12: 55,001,594 (GRCm39) P142Q probably damaging Het
Btbd1 G T 7: 81,444,055 (GRCm39) probably null Het
Cacnb3 T C 15: 98,537,734 (GRCm39) Y70H probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 (GRCm39) W19R probably damaging Het
Dock10 T A 1: 80,508,962 (GRCm39) I1610F probably damaging Het
Gm11444 C A 11: 85,738,920 (GRCm39) D58Y unknown Het
Gm7168 A T 17: 14,170,120 (GRCm39) T496S probably benign Het
Gpc5 A G 14: 115,636,600 (GRCm39) S428G probably benign Het
Haus8 T C 8: 71,705,757 (GRCm39) E309G probably damaging Het
Ice1 A G 13: 70,753,023 (GRCm39) L1021P possibly damaging Het
Krtap14 A T 16: 88,622,615 (GRCm39) H121Q probably benign Het
Nwd1 T C 8: 73,388,959 (GRCm39) V170A probably benign Het
Or1j10 T A 2: 36,267,460 (GRCm39) M224K probably benign Het
Or6c3b T C 10: 129,527,898 (GRCm39) Y4C probably damaging Het
Or8g24 G A 9: 38,990,020 (GRCm39) T7I possibly damaging Het
Pfpl T C 19: 12,406,037 (GRCm39) M96T possibly damaging Het
Pramel5 A G 4: 143,997,732 (GRCm39) probably benign Het
Proc T C 18: 32,256,605 (GRCm39) N354S probably benign Het
Prss40 T G 1: 34,599,847 (GRCm39) I47L probably benign Het
Tmprss7 T C 16: 45,484,538 (GRCm39) R541G probably benign Het
Togaram2 T C 17: 72,023,508 (GRCm39) V788A possibly damaging Het
Trbv19 T C 6: 41,155,838 (GRCm39) Y70H probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Other mutations in Ttk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00721:Ttk APN 9 83,745,501 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-10-07