Incidental Mutation 'R0376:Ttbk2'
ID |
30732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
038582-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0376 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120608062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 186
(F186L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: F255L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: F255L
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 |
probably damaging
Transcript: ENSMUST00000057135
AA Change: F186L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: F186L
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 |
probably damaging
Transcript: ENSMUST00000085840
AA Change: F186L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: F186L
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 |
probably damaging
Transcript: ENSMUST00000131389
AA Change: F151L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: F151L
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 |
possibly damaging
Transcript: ENSMUST00000143051
AA Change: F186L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: F186L
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 |
0.8481 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
probably damaging |
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 |
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 |
R2033:Ttbk2
|
UTSW |
2 |
120,637,330 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CCTCAGCTCCTAAGCACTTTATATGCC -3'
(R):5'- CCCAAGTTCAATGCCCATCATGTCATC -3'
Sequencing Primer
(F):5'- CCTAAGCACTTTATATGCCTTTGAAC -3'
(R):5'- cacacactcacacacacac -3'
|
Posted On |
2013-04-24 |