Incidental Mutation 'R1941:Ttk'
ID 214015
Institutional Source Beutler Lab
Gene Symbol Ttk
Ensembl Gene ENSMUSG00000038379
Gene Name Ttk protein kinase
Synonyms Mps1, Esk1
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 83716742-83754442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83735179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 422 (S422A)
Ref Sequence ENSEMBL: ENSMUSP00000139956 (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: S422A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: S422A

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
AA Change: S422A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379
AA Change: S422A

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
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGGATACGGGTGTGCACAC -3'
(R):5'- CTGATGCTGAGAAAGAAAGTAATTTCC -3'

Sequencing Primer
(F):5'- AAGAGTCATGGTGCCTCTTCACAG -3'
(R):5'- TCTGAGCTCAGGGCAAAA -3'
Posted On 2014-07-14