Incidental Mutation 'R0400:Ttbk2'
ID |
38103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
038605-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120580723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 538
(T538S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
AA Change: T538S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: T538S
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: T469S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: T469S
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: T469S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: T469S
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: T434S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: T434S
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: T469S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: T469S
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 |
0.0598 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
Validation Efficiency |
97% (76/78) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
T |
A |
11: 30,376,360 (GRCm39) |
H169L |
probably benign |
Het |
9130230L23Rik |
T |
C |
5: 66,147,699 (GRCm39) |
D28G |
unknown |
Het |
Abca12 |
T |
A |
1: 71,298,935 (GRCm39) |
|
probably benign |
Het |
Acsl5 |
T |
C |
19: 55,282,143 (GRCm39) |
V573A |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,770,972 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
G |
15: 96,254,806 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
T |
A |
3: 61,271,556 (GRCm39) |
|
probably benign |
Het |
Brsk2 |
T |
C |
7: 141,552,290 (GRCm39) |
L584P |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,449,043 (GRCm39) |
Y35H |
probably damaging |
Het |
Cacul1 |
A |
G |
19: 60,551,591 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,414,078 (GRCm39) |
V88A |
probably benign |
Het |
Cnnm1 |
A |
T |
19: 43,456,803 (GRCm39) |
H614L |
probably damaging |
Het |
Col1a1 |
T |
A |
11: 94,832,195 (GRCm39) |
|
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,021,016 (GRCm39) |
D242V |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,420,915 (GRCm39) |
M1T |
probably null |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,721,054 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,972,904 (GRCm39) |
S2010P |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,480,934 (GRCm39) |
L246P |
probably damaging |
Het |
Dus2 |
A |
T |
8: 106,775,309 (GRCm39) |
T279S |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,423,522 (GRCm39) |
|
probably null |
Het |
Esco2 |
C |
A |
14: 66,069,155 (GRCm39) |
V52F |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 63,012,882 (GRCm39) |
T104S |
probably benign |
Het |
Foxj2 |
A |
T |
6: 122,810,767 (GRCm39) |
Q249L |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,037,023 (GRCm39) |
Y122C |
probably damaging |
Het |
Gimd1 |
T |
C |
3: 132,340,588 (GRCm39) |
Y35H |
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,871,305 (GRCm39) |
F74L |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,139 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,141 (GRCm39) |
T2325A |
probably damaging |
Het |
Iffo1 |
A |
G |
6: 125,130,434 (GRCm39) |
K471R |
probably damaging |
Het |
Ireb2 |
G |
A |
9: 54,803,782 (GRCm39) |
R491H |
probably benign |
Het |
Isg20 |
A |
G |
7: 78,566,473 (GRCm39) |
N141D |
possibly damaging |
Het |
Kmt5c |
G |
A |
7: 4,749,243 (GRCm39) |
R100H |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
Lrrn4 |
A |
C |
2: 132,719,940 (GRCm39) |
F287V |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,427 (GRCm39) |
K349E |
probably benign |
Het |
Mmrn1 |
A |
C |
6: 60,954,099 (GRCm39) |
K793N |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,421,830 (GRCm39) |
V8227A |
possibly damaging |
Het |
Myh2 |
C |
T |
11: 67,083,424 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,372 (GRCm39) |
|
probably benign |
Het |
Nfia |
T |
C |
4: 97,951,373 (GRCm39) |
V400A |
probably damaging |
Het |
Nxph4 |
T |
A |
10: 127,362,127 (GRCm39) |
T255S |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,803,386 (GRCm39) |
T359I |
probably damaging |
Het |
Or1e33 |
T |
C |
11: 73,738,867 (GRCm39) |
Y28C |
probably benign |
Het |
Or5t18 |
A |
G |
2: 86,636,995 (GRCm39) |
M116T |
probably damaging |
Het |
Or8b44 |
A |
G |
9: 38,410,207 (GRCm39) |
M81V |
possibly damaging |
Het |
Or8g21 |
G |
T |
9: 38,906,494 (GRCm39) |
P79Q |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,939,499 (GRCm39) |
I545M |
possibly damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
Phlpp1 |
T |
A |
1: 106,320,664 (GRCm39) |
I1553N |
probably benign |
Het |
Pink1 |
T |
C |
4: 138,045,229 (GRCm39) |
T282A |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,838,240 (GRCm39) |
F1706S |
probably benign |
Het |
Pycr1 |
G |
A |
11: 120,532,352 (GRCm39) |
|
probably benign |
Het |
Rigi |
A |
G |
4: 40,235,257 (GRCm39) |
Y78H |
probably benign |
Het |
Skint9 |
A |
G |
4: 112,271,198 (GRCm39) |
S71P |
probably damaging |
Het |
Smad1 |
A |
G |
8: 80,098,399 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
A |
T |
9: 64,087,789 (GRCm39) |
E33D |
probably damaging |
Het |
Snrnp40 |
T |
C |
4: 130,256,443 (GRCm39) |
L56P |
probably damaging |
Het |
Stab2 |
A |
C |
10: 86,708,474 (GRCm39) |
I1697S |
probably damaging |
Het |
Tfap2a |
G |
T |
13: 40,870,888 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
G |
10: 114,916,025 (GRCm39) |
|
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,077 (GRCm39) |
V118A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,545,616 (GRCm39) |
V32569A |
possibly damaging |
Het |
U2af1 |
T |
A |
17: 31,867,166 (GRCm39) |
Y158F |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,534,496 (GRCm39) |
|
probably benign |
Het |
Vdr |
A |
G |
15: 97,767,232 (GRCm39) |
S179P |
probably benign |
Het |
Vps13d |
A |
C |
4: 144,792,397 (GRCm39) |
S663A |
probably benign |
Het |
Wdr62 |
T |
A |
7: 29,940,887 (GRCm39) |
T844S |
possibly damaging |
Het |
Wipi1 |
C |
T |
11: 109,467,956 (GRCm39) |
R407Q |
probably damaging |
Het |
Zbtb43 |
A |
G |
2: 33,343,909 (GRCm39) |
C439R |
probably damaging |
Het |
Zfp507 |
T |
A |
7: 35,491,171 (GRCm39) |
H704L |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,786,068 (GRCm39) |
R2080K |
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 |
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'- AGCTCACCTTCTAACAAAGGCACTG -3'
(R):5'- GCTCCAAGCCTTGGTTCACCAATTC -3'
Sequencing Primer
(F):5'- CAAAGGCACTGCAAATATGTTC -3'
(R):5'- CGTGTCCGATCAGAGATTACTCAG -3'
|
Posted On |
2013-05-23 |