Incidental Mutation 'R5951:Ttbk2'
ID |
470866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
044141-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 120603764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 256
(S256R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
AA Change: S325R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: S325R
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 benign
Transcript: ENSMUST00000057135
AA Change: S256R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: S256R
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: ENSMUST00000085840
AA Change: S256R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: S256R
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
AA Change: S221R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: S221R
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 benign
Transcript: ENSMUST00000143051
AA Change: S256R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: S256R
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 |
0.0685 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (78/78) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,244,811 (GRCm39) |
E180D |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,232,720 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,590,620 (GRCm39) |
I4396N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,450,199 (GRCm39) |
S2331L |
possibly damaging |
Het |
Apoh |
G |
T |
11: 108,286,729 (GRCm39) |
C51F |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,317,648 (GRCm39) |
V177A |
possibly damaging |
Het |
Atp13a1 |
T |
A |
8: 70,249,935 (GRCm39) |
I343N |
probably damaging |
Het |
Bcar1 |
T |
C |
8: 112,440,032 (GRCm39) |
D654G |
probably benign |
Het |
Brox |
T |
C |
1: 183,064,072 (GRCm39) |
K245R |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,524,577 (GRCm39) |
S258R |
possibly damaging |
Het |
Ccdc169 |
A |
C |
3: 55,047,562 (GRCm39) |
K18Q |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Crot |
C |
A |
5: 9,019,120 (GRCm39) |
E478* |
probably null |
Het |
Dgkq |
A |
T |
5: 108,802,236 (GRCm39) |
M443K |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,339,057 (GRCm39) |
L326Q |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,000,342 (GRCm39) |
I93V |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,118,357 (GRCm39) |
T44I |
probably benign |
Het |
Enc1 |
T |
C |
13: 97,381,765 (GRCm39) |
S92P |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,051 (GRCm39) |
|
probably benign |
Het |
Eya4 |
T |
A |
10: 23,031,892 (GRCm39) |
S244C |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,436,173 (GRCm39) |
I490F |
possibly damaging |
Het |
Galntl6 |
A |
G |
8: 58,415,436 (GRCm39) |
V239A |
probably benign |
Het |
Glg1 |
T |
C |
8: 111,892,323 (GRCm39) |
I841V |
possibly damaging |
Het |
Gm15455 |
T |
C |
1: 33,876,893 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1l |
C |
T |
9: 114,743,473 (GRCm39) |
M142I |
probably benign |
Het |
Helb |
A |
G |
10: 119,927,653 (GRCm39) |
V819A |
possibly damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,802,255 (GRCm39) |
F374C |
probably damaging |
Het |
Hoxc10 |
G |
A |
15: 102,875,753 (GRCm39) |
S154N |
possibly damaging |
Het |
Ice2 |
A |
T |
9: 69,319,651 (GRCm39) |
T367S |
possibly damaging |
Het |
Iqca1 |
A |
T |
1: 90,067,819 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,535,801 (GRCm39) |
D1447E |
probably benign |
Het |
Larp1 |
G |
T |
11: 57,940,765 (GRCm39) |
M630I |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,326,667 (GRCm39) |
|
probably null |
Het |
Map4k3 |
G |
T |
17: 80,911,427 (GRCm39) |
Q673K |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,686,823 (GRCm39) |
N201D |
possibly damaging |
Het |
Mrpl15 |
C |
A |
1: 4,855,956 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,998,222 (GRCm39) |
V655D |
probably damaging |
Het |
Odf1 |
T |
C |
15: 38,226,531 (GRCm39) |
Y144H |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,493 (GRCm39) |
C169F |
probably damaging |
Het |
Or5t5 |
G |
T |
2: 86,616,571 (GRCm39) |
V166L |
probably benign |
Het |
Padi1 |
T |
C |
4: 140,542,140 (GRCm39) |
Y594C |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,756,049 (GRCm39) |
D520E |
probably benign |
Het |
Paox |
G |
A |
7: 139,707,567 (GRCm39) |
C130Y |
probably damaging |
Het |
Parpbp |
T |
A |
10: 87,975,769 (GRCm39) |
S115C |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,721,708 (GRCm39) |
V1438A |
possibly damaging |
Het |
Pdlim2 |
T |
A |
14: 70,405,229 (GRCm39) |
D212V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,121,006 (GRCm39) |
F53L |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,967,419 (GRCm39) |
D839E |
probably damaging |
Het |
Pou2f1 |
T |
C |
1: 165,710,625 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
T |
16: 4,906,492 (GRCm39) |
Y1268N |
probably benign |
Het |
Prelid3a |
C |
T |
18: 67,598,011 (GRCm39) |
S6L |
probably benign |
Het |
Ptk2 |
T |
G |
15: 73,175,682 (GRCm39) |
D285A |
possibly damaging |
Het |
Rasd2 |
T |
G |
8: 75,948,811 (GRCm39) |
Y246D |
probably damaging |
Het |
Rhbdl2 |
A |
G |
4: 123,708,120 (GRCm39) |
T110A |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,085 (GRCm39) |
F217I |
probably damaging |
Het |
Serhl |
T |
C |
15: 82,987,237 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,123,078 (GRCm39) |
E613G |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,502,714 (GRCm39) |
|
probably benign |
Het |
Steap4 |
T |
C |
5: 8,025,769 (GRCm39) |
I110T |
probably benign |
Het |
Syde1 |
C |
A |
10: 78,425,150 (GRCm39) |
R287L |
possibly damaging |
Het |
Tmem184c |
C |
T |
8: 78,325,291 (GRCm39) |
|
probably null |
Het |
Trmt44 |
C |
A |
5: 35,730,032 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,036,336 (GRCm39) |
I322F |
probably damaging |
Het |
Ubap2 |
A |
T |
4: 41,205,753 (GRCm39) |
|
probably null |
Het |
Wsb2 |
A |
T |
5: 117,515,600 (GRCm39) |
T402S |
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 |
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 |
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'- GTTTGCACACATTCCACATCAC -3'
(R):5'- TGCATAGCCTGTTTCAATCTTGAC -3'
Sequencing Primer
(F):5'- ACCAGCATCATGTTCATTTCAC -3'
(R):5'- ACAGTGTTAATCGTCAGTGTGTAAGC -3'
|
Posted On |
2017-03-31 |