Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Ttk'

694397

Institutional Source

Beutler Lab

Gene Symbol

Ttk

Ensembl Gene

ENSMUSG00000038379

Gene Name

Ttk protein kinase

Synonyms

Mps1, Esk1

MMRRC Submission

068934-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83716742-83754442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83725741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 221 (R221Q)

Ref Sequence

ENSEMBL: ENSMUSP00000064839 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070326
AA Change: R221Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: R221Q

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 damaging
Transcript: ENSMUST00000185913
AA Change: R221Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379
AA Change: R221Q

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

probably benign
Transcript: ENSMUST00000191484

SMART Domains

Protein: ENSMUSP00000139900
Gene: ENSMUSG00000038379

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Foxm1	T	A	6: 128,344,298 (GRCm39)	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Kif7	A	T	7: 79,356,585 (GRCm39)	M702K	probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or5w12	C	T	2: 87,502,313 (GRCm39)	V133I	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Or6c1	T	C	10: 129,518,285 (GRCm39)	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	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
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
R9434:Ttk	UTSW	9	83,750,143 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTTGGAAAGAAGTGTATTGATGC -3'
(R):5'- ACTTCGGCATCTTGTGGAGG -3'

Sequencing Primer
(F):5'- ATTGATGCTAGACATTGTCCCG -3'
(R):5'- TGGAGGCAAGTTCTCTCTAAAG -3'

Posted On

2022-01-20