Incidental Mutation 'R0279:Ttbk2'
ID |
24524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
038501-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120579441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 491
(H491Q)
|
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: H560Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: H560Q
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: H491Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: H491Q
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: H491Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: H491Q
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 benign
Transcript: ENSMUST00000143051
AA Change: H491Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: H491Q
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 |
0.0580 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.6%
|
Validation Efficiency |
99% (82/83) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610528J11Rik |
A |
T |
4: 118,386,490 (GRCm39) |
M1L |
probably benign |
Het |
5730596B20Rik |
T |
A |
6: 52,156,182 (GRCm39) |
|
probably benign |
Het |
Acrbp |
T |
C |
6: 125,030,917 (GRCm39) |
|
probably null |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Acss3 |
A |
G |
10: 106,920,732 (GRCm39) |
I126T |
possibly damaging |
Het |
Aff3 |
T |
C |
1: 38,574,650 (GRCm39) |
E110G |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,059,000 (GRCm39) |
I113V |
probably benign |
Het |
Aplp2 |
T |
C |
9: 31,069,086 (GRCm39) |
E525G |
probably damaging |
Het |
Atp2b4 |
A |
G |
1: 133,657,440 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
C |
T |
5: 67,970,435 (GRCm39) |
|
probably null |
Het |
Bhmt |
A |
G |
13: 93,761,972 (GRCm39) |
C104R |
probably damaging |
Het |
Cct5 |
T |
G |
15: 31,591,177 (GRCm39) |
E508A |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,787,065 (GRCm39) |
E2761D |
probably benign |
Het |
Clstn1 |
T |
C |
4: 149,728,131 (GRCm39) |
S600P |
probably damaging |
Het |
Cnppd1 |
A |
G |
1: 75,113,573 (GRCm39) |
S232P |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,619 (GRCm39) |
|
probably null |
Het |
Csmd1 |
A |
G |
8: 16,273,249 (GRCm39) |
I861T |
probably damaging |
Het |
Cyp2d10 |
A |
C |
15: 82,289,540 (GRCm39) |
S191A |
possibly damaging |
Het |
Ddx10 |
T |
C |
9: 53,146,604 (GRCm39) |
D206G |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,024,332 (GRCm39) |
H916N |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,802,615 (GRCm39) |
|
probably null |
Het |
Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
Etnppl |
A |
G |
3: 130,423,062 (GRCm39) |
R248G |
probably damaging |
Het |
Eya3 |
T |
C |
4: 132,446,558 (GRCm39) |
F369L |
probably damaging |
Het |
Fam170b |
T |
C |
14: 32,556,025 (GRCm39) |
|
probably benign |
Het |
Fli1 |
A |
T |
9: 32,372,723 (GRCm39) |
V105D |
probably damaging |
Het |
Fmo1 |
T |
C |
1: 162,657,841 (GRCm39) |
I433M |
possibly damaging |
Het |
Fndc3b |
C |
A |
3: 27,511,155 (GRCm39) |
C785F |
probably benign |
Het |
Foxe3 |
T |
C |
4: 114,782,765 (GRCm39) |
D149G |
probably damaging |
Het |
Gk5 |
T |
C |
9: 96,056,857 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
A |
G |
2: 154,867,372 (GRCm39) |
D443G |
possibly damaging |
Het |
Gm9796 |
C |
T |
11: 95,588,821 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
A |
T |
9: 118,398,061 (GRCm39) |
R52S |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,710,006 (GRCm39) |
C249F |
probably damaging |
Het |
Ipo9 |
A |
T |
1: 135,348,101 (GRCm39) |
|
probably benign |
Het |
Ireb2 |
C |
A |
9: 54,793,877 (GRCm39) |
T269K |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,391,050 (GRCm39) |
V274A |
probably damaging |
Het |
Kcnk2 |
C |
T |
1: 188,942,169 (GRCm39) |
A352T |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,006,442 (GRCm39) |
E903G |
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,541 (GRCm39) |
K253R |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,793,536 (GRCm39) |
|
probably benign |
Het |
Lrrc39 |
A |
T |
3: 116,371,952 (GRCm39) |
T240S |
probably benign |
Het |
Lrrc43 |
A |
G |
5: 123,635,085 (GRCm39) |
|
probably null |
Het |
Maf |
T |
C |
8: 116,432,495 (GRCm39) |
M370V |
possibly damaging |
Het |
Mib2 |
G |
A |
4: 155,745,673 (GRCm39) |
S46L |
possibly damaging |
Het |
Mms22l |
C |
T |
4: 24,497,867 (GRCm39) |
T63I |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,633,989 (GRCm39) |
S700R |
probably benign |
Het |
Mpz |
A |
G |
1: 170,987,498 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
T |
C |
16: 81,420,225 (GRCm39) |
|
probably benign |
Het |
Niban1 |
T |
C |
1: 151,584,957 (GRCm39) |
|
probably null |
Het |
Nudt14 |
C |
T |
12: 112,902,037 (GRCm39) |
A123T |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,543 (GRCm39) |
|
probably benign |
Het |
Or10h1 |
C |
T |
17: 33,418,298 (GRCm39) |
T92I |
probably benign |
Het |
Or2a7 |
G |
A |
6: 43,151,692 (GRCm39) |
M257I |
probably benign |
Het |
Or9g20 |
A |
T |
2: 85,629,879 (GRCm39) |
I245N |
possibly damaging |
Het |
Otoa |
T |
C |
7: 120,710,302 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
G |
A |
12: 32,254,790 (GRCm39) |
T399I |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,973,309 (GRCm39) |
A377V |
probably benign |
Het |
Ppan |
A |
G |
9: 20,802,825 (GRCm39) |
N327S |
probably benign |
Het |
Prkca |
T |
C |
11: 107,944,937 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,543,033 (GRCm39) |
V320E |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,444,278 (GRCm39) |
V1442A |
probably damaging |
Het |
Rapgef1 |
C |
T |
2: 29,616,239 (GRCm39) |
R834C |
probably damaging |
Het |
Rbms1 |
G |
T |
2: 60,672,754 (GRCm39) |
N44K |
probably damaging |
Het |
Rfwd3 |
A |
C |
8: 112,009,365 (GRCm39) |
F404V |
probably benign |
Het |
Rimbp3 |
G |
T |
16: 17,027,317 (GRCm39) |
R247L |
probably benign |
Het |
Serpinb1b |
T |
C |
13: 33,277,696 (GRCm39) |
S310P |
possibly damaging |
Het |
Smtn |
C |
A |
11: 3,480,235 (GRCm39) |
V329L |
probably damaging |
Het |
Snapc2 |
T |
C |
8: 4,304,979 (GRCm39) |
|
probably benign |
Het |
Spam1 |
A |
T |
6: 24,800,418 (GRCm39) |
M386L |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,142,387 (GRCm39) |
E6208G |
probably damaging |
Het |
Teddm1a |
T |
C |
1: 153,768,369 (GRCm39) |
Y278H |
probably damaging |
Het |
Tnfaip6 |
A |
T |
2: 51,945,928 (GRCm39) |
N258I |
possibly damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,472 (GRCm39) |
R188Q |
probably damaging |
Het |
Urgcp |
C |
T |
11: 5,666,989 (GRCm39) |
E450K |
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,637 (GRCm39) |
N294D |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,015,958 (GRCm39) |
C2606S |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,021,377 (GRCm39) |
H642Q |
unknown |
Het |
Zbtb46 |
A |
G |
2: 181,053,567 (GRCm39) |
S382P |
possibly damaging |
Het |
Zfp217 |
A |
G |
2: 169,961,700 (GRCm39) |
I209T |
probably benign |
Het |
Zranb3 |
T |
A |
1: 127,891,510 (GRCm39) |
N822I |
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 |
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 |
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'- TGATCCCTCAAGGACCTGAAGCAC -3'
(R):5'- CAAGTAGAGAGCATCATGGCCCTG -3'
Sequencing Primer
(F):5'- TTGTCCTAAAGTCCTGAAGGTC -3'
(R):5'- ATCATGGCCCTGTGAGACTC -3'
|
Posted On |
2013-04-16 |