Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Ttk'

78328

Institutional Source

Beutler Lab

Gene Symbol

Ttk

Ensembl Gene

ENSMUSG00000038379

Gene Name

Ttk protein kinase

Synonyms

Mps1, Esk1

MMRRC Submission

039007-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0827 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

83716742-83754442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83725968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 250 (R250G)

Ref Sequence

ENSEMBL: ENSMUSP00000139956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070326] [ENSMUST00000185913] [ENSMUST00000191484]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070326
AA Change: R250G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: R250G

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
AA Change: R250G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379
AA Change: R250G

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: ENSMUST00000186277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188445

Predicted Effect

probably benign
Transcript: ENSMUST00000191484

SMART Domains

Protein: ENSMUSP00000139900
Gene: ENSMUSG00000038379

Domain	Start	End	E-Value	Type
PDB:4H7Y\|D	48	156	4e-65	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGCCGTTCTCCAGCTCACTTG -3'
(R):5'- GGACATGGATATACGTCAGTGGCAG -3'

Sequencing Primer
(F):5'- TCCAGCTCACTTGGAAATGTACAG -3'
(R):5'- GTCTTCACATAGAAATCTGGGCTG -3'

Posted On

2013-10-16