Incidental Mutation 'R8189:Ttk'
| ID |
635031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttk
|
| Ensembl Gene |
ENSMUSG00000038379 |
| Gene Name |
Ttk protein kinase |
| Synonyms |
Mps1, Esk1 |
| MMRRC Submission |
067612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
83716742-83754442 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83729272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 352
(S352G)
|
| 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 benign
Transcript: ENSMUST00000070326
AA Change: S352G
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000064839
Gene: ENSMUSG00000038379
AA Change: S352G
| 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: S352G
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139956
Gene: ENSMUSG00000038379
AA Change: S352G
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,885 (GRCm39) |
I1531T |
probably damaging |
Het |
| Ankrd13d |
G |
A |
19: 4,320,880 (GRCm39) |
P516S |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,364,214 (GRCm39) |
|
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,837,563 (GRCm39) |
I422V |
probably benign |
Het |
| Ceacam1 |
A |
G |
7: 25,173,343 (GRCm39) |
S282P |
probably damaging |
Het |
| Chka |
G |
T |
19: 3,925,759 (GRCm39) |
E159* |
probably null |
Het |
| Ckmt2 |
T |
C |
13: 92,003,894 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cngb1 |
TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG |
TTCTGGCTCTGGCTCTGGCTCTGG |
8: 96,030,248 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
A |
G |
13: 61,184,969 (GRCm39) |
L239P |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,106 (GRCm39) |
L1358P |
probably damaging |
Het |
| Dglucy |
G |
A |
12: 100,804,889 (GRCm39) |
E127K |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,910,077 (GRCm39) |
L794P |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,774,629 (GRCm39) |
T654I |
probably damaging |
Het |
| Gmeb2 |
G |
A |
2: 180,919,760 (GRCm39) |
T38M |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,108,625 (GRCm39) |
F243L |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,629,489 (GRCm39) |
D244E |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,106,396 (GRCm39) |
I1005F |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,756 (GRCm39) |
F2658L |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,013,164 (GRCm39) |
D27G |
probably damaging |
Het |
| Mrgprb2 |
G |
T |
7: 48,202,502 (GRCm39) |
Y74* |
probably null |
Het |
| Mtrex |
T |
A |
13: 113,028,515 (GRCm39) |
R628S |
possibly damaging |
Het |
| Nrcam |
C |
A |
12: 44,617,291 (GRCm39) |
P740T |
possibly damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,011,637 (GRCm39) |
V331I |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,013 (GRCm39) |
V157A |
probably benign |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,118 (GRCm39) |
V153A |
|
Het |
| Or5k1b |
T |
A |
16: 58,581,288 (GRCm39) |
N84Y |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,501,939 (GRCm39) |
N5S |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,377,122 (GRCm39) |
C239S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,733,337 (GRCm39) |
F479L |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,819,404 (GRCm39) |
F104I |
probably damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,204,039 (GRCm39) |
C58S |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,022 (GRCm39) |
V260A |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,433,439 (GRCm39) |
T1395A |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,144,570 (GRCm39) |
I95T |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,635,575 (GRCm39) |
V599A |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,555 (GRCm39) |
D196N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,713 (GRCm39) |
F664L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,478,618 (GRCm39) |
L43Q |
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 |
|
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'- TCTGGGAGTTTGTGAGTCTACAAATAC -3'
(R):5'- ACTTGAGGCCTTTCCATGC -3'
Sequencing Primer
(F):5'- CAAGAGATAGTTTTGCAAGCAATC -3'
(R):5'- ATGCCATGGTTATCTTCTCTTATCG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation