Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Ttk'

384017

Institutional Source

Beutler Lab

Gene Symbol

Ttk

Ensembl Gene

ENSMUSG00000038379

Gene Name

Ttk protein kinase

Synonyms

Mps1, Esk1

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83716742-83754442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83747201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 680 (I680N)

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: I680N

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: I680N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	probably damaging	Het

Other mutations in Ttk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCTCATCTGATTGTACCTGGG -3'
(R):5'- AAACTGGGCCCCTGATAAGG -3'

Sequencing Primer
(F):5'- CCTGGGATGGGATAGTACATACATTC -3'
(R):5'- CTGATAAGGGACATCAGGGAAGC -3'

Posted On

2016-04-27