Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01298:Ttk'

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

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

83834689-83872389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83865142 bp

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]

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Ttk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00721:Ttk	APN	9	83863448	missense	probably damaging	1.00
IGL02806:Ttk	APN	9	83862487	nonsense	probably null
IGL03080:Ttk	APN	9	83843083	missense	probably damaging	1.00
R0396:Ttk	UTSW	9	83847260	unclassified	probably benign
R0507:Ttk	UTSW	9	83868067	missense	probably damaging	0.97
R0827:Ttk	UTSW	9	83843915	missense	probably benign
R1077:Ttk	UTSW	9	83844149	unclassified	probably benign
R1730:Ttk	UTSW	9	83868592	missense	possibly damaging	0.86
R1844:Ttk	UTSW	9	83854862	missense	possibly damaging	0.55
R1856:Ttk	UTSW	9	83869263	missense	probably damaging	1.00
R1941:Ttk	UTSW	9	83853126	missense	probably benign	0.22
R2191:Ttk	UTSW	9	83862183	missense	probably damaging	0.99
R3737:Ttk	UTSW	9	83854837	missense	possibly damaging	0.88
R4035:Ttk	UTSW	9	83854837	missense	possibly damaging	0.88
R4903:Ttk	UTSW	9	83865148	missense	probably benign	0.42
R4908:Ttk	UTSW	9	83843686	missense	possibly damaging	0.96
R4966:Ttk	UTSW	9	83865148	missense	probably benign	0.42
R5023:Ttk	UTSW	9	83863541	missense	probably damaging	1.00
R5197:Ttk	UTSW	9	83839341	missense	probably benign
R5567:Ttk	UTSW	9	83862535	missense	possibly damaging	0.94
R6022:Ttk	UTSW	9	83839322	missense	probably damaging	1.00
R6900:Ttk	UTSW	9	83872030	missense	probably damaging	0.96
R7039:Ttk	UTSW	9	83868092	missense	probably damaging	1.00
R7373:Ttk	UTSW	9	83854877	missense	probably benign	0.00
R7715:Ttk	UTSW	9	83865153	missense	probably benign	0.10
R7846:Ttk	UTSW	9	83843679	missense	probably benign	0.27
R8189:Ttk	UTSW	9	83847219	missense	probably benign	0.38
R8520:Ttk	UTSW	9	83857327	missense	possibly damaging	0.93

Posted On

2013-10-07