Incidental Mutation 'R2033:Ttbk2'
| ID |
221448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
| MMRRC Submission |
040040-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2033 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120637330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 112
(T112A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: T112A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: T112A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
90 |
347 |
7e-31 |
PFAM |
|
Pfam:Pkinase_Tyr
|
90 |
348 |
8.2e-19 |
PFAM |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057135
AA Change: T43A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: T43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085840
AA Change: T43A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: T43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131389
AA Change: T43A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: T43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
145 |
1.3e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
148 |
9.7e-12 |
PFAM |
|
Pfam:Pkinase
|
145 |
239 |
1.2e-5 |
PFAM |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141921
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143051
AA Change: T43A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: T43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
2.4e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
7.7e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
| Meta Mutation Damage Score |
0.1244 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
| Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
| Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
| Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
| Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
| G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
| Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
| Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
| Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
| Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
| Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
| Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
| Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
| Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
| Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
| Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
| Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
probably benign |
Het |
|
| Other mutations in Ttbk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ttbk2
|
APN |
2 |
120,579,314 (GRCm39) |
nonsense |
probably null |
|
|
IGL00484:Ttbk2
|
APN |
2 |
120,604,367 (GRCm39) |
nonsense |
probably null |
|
|
IGL00767:Ttbk2
|
APN |
2 |
120,576,226 (GRCm39) |
missense |
probably benign |
|
|
IGL00809:Ttbk2
|
APN |
2 |
120,590,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Ttbk2
|
APN |
2 |
120,570,314 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01974:Ttbk2
|
APN |
2 |
120,616,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02488:Ttbk2
|
APN |
2 |
120,586,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02874:Ttbk2
|
APN |
2 |
120,576,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02893:Ttbk2
|
APN |
2 |
120,614,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Ttbk2
|
APN |
2 |
120,652,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0279:Ttbk2
|
UTSW |
2 |
120,579,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Ttbk2
|
UTSW |
2 |
120,576,264 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0376:Ttbk2
|
UTSW |
2 |
120,608,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Ttbk2
|
UTSW |
2 |
120,580,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0601:Ttbk2
|
UTSW |
2 |
120,655,777 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0606:Ttbk2
|
UTSW |
2 |
120,604,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Ttbk2
|
UTSW |
2 |
120,579,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0718:Ttbk2
|
UTSW |
2 |
120,579,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0718:Ttbk2
|
UTSW |
2 |
120,575,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0783:Ttbk2
|
UTSW |
2 |
120,570,458 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0906:Ttbk2
|
UTSW |
2 |
120,614,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:Ttbk2
|
UTSW |
2 |
120,637,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Ttbk2
|
UTSW |
2 |
120,637,389 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1420:Ttbk2
|
UTSW |
2 |
120,576,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1734:Ttbk2
|
UTSW |
2 |
120,586,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2047:Ttbk2
|
UTSW |
2 |
120,579,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2893:Ttbk2
|
UTSW |
2 |
120,576,091 (GRCm39) |
splice site |
probably null |
|
|
R3783:Ttbk2
|
UTSW |
2 |
120,604,296 (GRCm39) |
splice site |
probably benign |
|
|
R3785:Ttbk2
|
UTSW |
2 |
120,604,296 (GRCm39) |
splice site |
probably benign |
|
|
R3870:Ttbk2
|
UTSW |
2 |
120,570,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Ttbk2
|
UTSW |
2 |
120,590,736 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4039:Ttbk2
|
UTSW |
2 |
120,576,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4060:Ttbk2
|
UTSW |
2 |
120,579,465 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4624:Ttbk2
|
UTSW |
2 |
120,603,804 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4634:Ttbk2
|
UTSW |
2 |
120,570,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Ttbk2
|
UTSW |
2 |
120,570,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Ttbk2
|
UTSW |
2 |
120,575,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4811:Ttbk2
|
UTSW |
2 |
120,570,551 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4962:Ttbk2
|
UTSW |
2 |
120,575,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Ttbk2
|
UTSW |
2 |
120,603,758 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4966:Ttbk2
|
UTSW |
2 |
120,603,758 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5369:Ttbk2
|
UTSW |
2 |
120,655,743 (GRCm39) |
start gained |
probably benign |
|
|
R5430:Ttbk2
|
UTSW |
2 |
120,608,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Ttbk2
|
UTSW |
2 |
120,637,305 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5812:Ttbk2
|
UTSW |
2 |
120,653,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5898:Ttbk2
|
UTSW |
2 |
120,575,521 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5951:Ttbk2
|
UTSW |
2 |
120,603,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6135:Ttbk2
|
UTSW |
2 |
120,580,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Ttbk2
|
UTSW |
2 |
120,603,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Ttbk2
|
UTSW |
2 |
120,655,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7013:Ttbk2
|
UTSW |
2 |
120,576,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7128:Ttbk2
|
UTSW |
2 |
120,576,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7173:Ttbk2
|
UTSW |
2 |
120,570,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Ttbk2
|
UTSW |
2 |
120,620,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Ttbk2
|
UTSW |
2 |
120,579,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7891:Ttbk2
|
UTSW |
2 |
120,616,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Ttbk2
|
UTSW |
2 |
120,604,338 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9050:Ttbk2
|
UTSW |
2 |
120,637,319 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9051:Ttbk2
|
UTSW |
2 |
120,575,911 (GRCm39) |
nonsense |
probably null |
|
|
R9372:Ttbk2
|
UTSW |
2 |
120,603,766 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9485:Ttbk2
|
UTSW |
2 |
120,575,986 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9675:Ttbk2
|
UTSW |
2 |
120,637,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
RF010:Ttbk2
|
UTSW |
2 |
120,620,820 (GRCm39) |
nonsense |
probably null |
|
|
RF021:Ttbk2
|
UTSW |
2 |
120,579,115 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTTTATAACTAGCTAACACCAGAG -3'
(R):5'- TGTAGACAAATCTGTAGGACAGTG -3'
Sequencing Primer
(F):5'- CCAGAGTGGTCCATTAGTATAGAG -3'
(R):5'- TGTGTTTTTCTTGCTGTATAAATGAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation