Incidental Mutation 'R6889:Ttbk2'
ID |
537085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
044983-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6889 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120603834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 198
(E198G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: E302G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: E302G
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: E233G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: E233G
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: E233G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: E233G
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: E198G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: E198G
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 |
probably damaging
Transcript: ENSMUST00000143051
AA Change: E233G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: E233G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
Cacnb2 |
T |
A |
2: 14,990,826 (GRCm39) |
V636E |
possibly damaging |
Het |
Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,602,044 (GRCm39) |
Y270H |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
Nod1 |
A |
G |
6: 54,921,094 (GRCm39) |
F408S |
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
Qars1 |
A |
G |
9: 108,390,382 (GRCm39) |
T428A |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,951,960 (GRCm39) |
L1157Q |
probably damaging |
Het |
Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
possibly 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 |
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 |
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 |
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'- GTTTGCACACATTCCACATCAC -3'
(R):5'- ATCAGTTCACGGGCATAGGC -3'
Sequencing Primer
(F):5'- AGGAACCTTCTATACTTAGTTCTGTC -3'
(R):5'- GGCATAGGCTCCATGTTAATGTAAGC -3'
|
Posted On |
2018-10-18 |