Incidental Mutation 'R0783:Ttbk2'
ID |
76710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
038963-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0783 (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 120570458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1163
(S1163T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028740
AA Change: S1232T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: S1232T
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 |
possibly damaging
Transcript: ENSMUST00000057135
AA Change: S1163T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: S1163T
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 |
possibly damaging
Transcript: ENSMUST00000085840
AA Change: S1163T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: S1163T
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 |
noncoding transcript
Transcript: ENSMUST00000148285
|
Meta Mutation Damage Score |
0.0894 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
Validation Efficiency |
100% (47/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
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 |
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'- TTCCCAGAGATGTAGCCTGCTCAC -3'
(R):5'- CGCCTGGCCCAAATTCTTCAAAATG -3'
Sequencing Primer
(F):5'- TCCTATCTGCTGAGTTTACTGG -3'
(R):5'- TGGATCTCAGAAATCCCGGAG -3'
|
Posted On |
2013-10-16 |