Incidental Mutation 'R0906:Ttbk2'
ID |
83315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
039064-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120614262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 151
(R151C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: R220C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: R220C
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: R151C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: R151C
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: R151C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: R151C
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 benign
Transcript: ENSMUST00000131389
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100
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: R151C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: R151C
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 |
0.2261 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
100% (33/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
T |
A |
1: 130,665,430 (GRCm39) |
|
probably benign |
Het |
Atp7b |
T |
C |
8: 22,517,842 (GRCm39) |
H332R |
probably benign |
Het |
Bace2 |
C |
T |
16: 97,158,141 (GRCm39) |
P47L |
possibly damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,499,315 (GRCm39) |
M1V |
probably null |
Het |
Dcbld2 |
A |
G |
16: 58,275,610 (GRCm39) |
E442G |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,642,308 (GRCm39) |
T660A |
probably damaging |
Het |
Gm4945 |
A |
C |
17: 47,353,796 (GRCm39) |
|
noncoding transcript |
Het |
Gm6729 |
T |
C |
10: 86,376,456 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
G |
A |
2: 38,937,655 (GRCm39) |
R204W |
probably damaging |
Het |
Guf1 |
T |
C |
5: 69,723,729 (GRCm39) |
I348T |
probably damaging |
Het |
Htra4 |
T |
A |
8: 25,527,160 (GRCm39) |
I212L |
probably benign |
Het |
Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
Lgalsl2 |
T |
C |
7: 5,362,828 (GRCm39) |
I153T |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,425,403 (GRCm39) |
V1520A |
probably benign |
Het |
Nuak1 |
C |
T |
10: 84,211,144 (GRCm39) |
V315I |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,213,827 (GRCm39) |
G1740C |
probably damaging |
Het |
Or1r1 |
G |
C |
11: 73,874,685 (GRCm39) |
L250V |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,726,700 (GRCm39) |
|
probably benign |
Het |
Pik3r6 |
T |
C |
11: 68,426,927 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,292,556 (GRCm39) |
F1336I |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,345,291 (GRCm39) |
I355T |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,104,048 (GRCm39) |
|
probably benign |
Het |
Sec63 |
T |
A |
10: 42,677,924 (GRCm39) |
M312K |
probably damaging |
Het |
Slc2a5 |
T |
C |
4: 150,227,287 (GRCm39) |
I401T |
probably benign |
Het |
Slc9a8 |
G |
T |
2: 167,276,787 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
C |
14: 30,867,206 (GRCm39) |
E1718G |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,179,268 (GRCm39) |
I640N |
probably damaging |
Het |
Tmem217 |
A |
G |
17: 29,745,490 (GRCm39) |
L80P |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,205,792 (GRCm39) |
P810L |
probably benign |
Het |
Vmn2r88 |
T |
G |
14: 51,655,666 (GRCm39) |
L626R |
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 |
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 |
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'- TGGCCTTTTGGACAAGATCAAGTGT -3'
(R):5'- TGCTCAGTTTCCCTGATGGTAGACA -3'
Sequencing Primer
(F):5'- TTTGGACAAGATCAAGTGTAAAGTG -3'
(R):5'- CCCTTGAGAGGTAGAATCTGCAAC -3'
|
Posted On |
2013-11-08 |