Incidental Mutation 'R9485:Ttbk2'
ID |
716498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9485 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 120575986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 997
(T997N)
|
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: T997N
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: T997N
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: T928N
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: T928N
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: T928N
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: T928N
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
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,383,400 (GRCm39) |
D855G |
possibly damaging |
Het |
4930486L24Rik |
A |
T |
13: 61,001,059 (GRCm39) |
V159D |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,979,438 (GRCm39) |
A241T |
probably benign |
Het |
Apoa4 |
T |
C |
9: 46,152,453 (GRCm39) |
M1T |
probably null |
Het |
Atn1 |
T |
C |
6: 124,722,748 (GRCm39) |
K776E |
unknown |
Het |
Atp1a2 |
A |
G |
1: 172,105,822 (GRCm39) |
*948R |
probably null |
Het |
Atp7b |
T |
C |
8: 22,502,778 (GRCm39) |
Q801R |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,945,398 (GRCm39) |
S2824T |
probably damaging |
Het |
Cacng3 |
A |
T |
7: 122,361,435 (GRCm39) |
I109F |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,805 (GRCm39) |
F629S |
probably benign |
Het |
Ccdc168 |
T |
G |
1: 44,095,399 (GRCm39) |
K1900Q |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,230,858 (GRCm39) |
T370A |
probably damaging |
Het |
Cntnap5c |
A |
C |
17: 58,409,103 (GRCm39) |
D447A |
probably damaging |
Het |
Col11a2 |
T |
A |
17: 34,258,669 (GRCm39) |
L14Q |
unknown |
Het |
Dennd4a |
T |
G |
9: 64,814,388 (GRCm39) |
Y1505* |
probably null |
Het |
Dhx32 |
T |
C |
7: 133,327,110 (GRCm39) |
M464V |
possibly damaging |
Het |
Dip2b |
T |
C |
15: 100,052,924 (GRCm39) |
V266A |
probably benign |
Het |
Dnajb6 |
C |
T |
5: 29,986,517 (GRCm39) |
Q220* |
probably null |
Het |
Dnmt3a |
G |
A |
12: 3,916,121 (GRCm39) |
S102N |
probably benign |
Het |
Dph5 |
A |
T |
3: 115,681,977 (GRCm39) |
|
probably benign |
Het |
Ear6 |
T |
A |
14: 52,091,489 (GRCm39) |
L12H |
|
Het |
Erp27 |
T |
C |
6: 136,886,548 (GRCm39) |
T162A |
possibly damaging |
Het |
Fance |
T |
A |
17: 28,536,479 (GRCm39) |
L13H |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,089,405 (GRCm39) |
V947D |
probably benign |
Het |
Gab1 |
G |
A |
8: 81,515,484 (GRCm39) |
T278M |
probably damaging |
Het |
Gbp4 |
A |
T |
5: 105,269,796 (GRCm39) |
M344K |
probably damaging |
Het |
Gpr87 |
C |
T |
3: 59,087,005 (GRCm39) |
V167M |
possibly damaging |
Het |
Gramd1a |
T |
G |
7: 30,829,963 (GRCm39) |
D708A |
unknown |
Het |
Gzmd |
T |
A |
14: 56,368,160 (GRCm39) |
I100F |
probably benign |
Het |
Hcrtr1 |
T |
A |
4: 130,031,054 (GRCm39) |
M77L |
possibly damaging |
Het |
Hipk2 |
C |
A |
6: 38,680,445 (GRCm39) |
R965L |
possibly damaging |
Het |
Ift88 |
T |
C |
14: 57,675,724 (GRCm39) |
M79T |
probably benign |
Het |
Ighv1-12 |
T |
C |
12: 114,579,525 (GRCm39) |
Y99C |
possibly damaging |
Het |
Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
Il22b |
A |
G |
10: 118,130,314 (GRCm39) |
V63A |
probably benign |
Het |
Mllt1 |
C |
T |
17: 57,207,184 (GRCm39) |
R220H |
probably damaging |
Het |
Mroh8 |
T |
C |
2: 157,071,913 (GRCm39) |
T531A |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,181,802 (GRCm39) |
K1833R |
probably benign |
Het |
Nfkbie |
C |
T |
17: 45,871,353 (GRCm39) |
T270I |
probably damaging |
Het |
Or4c110 |
G |
A |
2: 88,831,709 (GRCm39) |
P308S |
unknown |
Het |
Or52b3 |
A |
T |
7: 102,204,013 (GRCm39) |
N174I |
probably damaging |
Het |
Or52e5 |
C |
T |
7: 104,718,703 (GRCm39) |
H10Y |
possibly damaging |
Het |
Pcdh8 |
A |
T |
14: 80,005,689 (GRCm39) |
F900I |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,520,720 (GRCm39) |
C32* |
probably null |
Het |
Pus7 |
A |
T |
5: 23,973,859 (GRCm39) |
S212T |
probably benign |
Het |
Rgs12 |
G |
T |
5: 35,189,614 (GRCm39) |
W1322L |
probably damaging |
Het |
Sec1 |
G |
A |
7: 45,328,033 (GRCm39) |
T338I |
probably damaging |
Het |
Slc25a36 |
T |
C |
9: 96,962,522 (GRCm39) |
K156E |
probably benign |
Het |
Snrpn |
C |
T |
7: 59,637,212 (GRCm39) |
D35N |
probably damaging |
Het |
Sox9 |
A |
G |
11: 112,673,705 (GRCm39) |
S99G |
probably benign |
Het |
Spmip3 |
T |
C |
1: 177,580,545 (GRCm39) |
V130A |
possibly damaging |
Het |
Tacc3 |
T |
C |
5: 33,821,644 (GRCm39) |
S135P |
possibly damaging |
Het |
Taf2 |
T |
C |
15: 54,911,667 (GRCm39) |
E583G |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,498,282 (GRCm39) |
K366* |
probably null |
Het |
Trpm6 |
G |
T |
19: 18,755,978 (GRCm39) |
V74L |
probably benign |
Het |
Utp25 |
C |
A |
1: 192,812,541 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
Vps50 |
T |
C |
6: 3,592,557 (GRCm39) |
V730A |
probably damaging |
Het |
Wdr47 |
A |
T |
3: 108,544,371 (GRCm39) |
I665F |
probably damaging |
Het |
Wnt7a |
T |
A |
6: 91,343,297 (GRCm39) |
N195I |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,251,885 (GRCm39) |
|
probably benign |
Het |
Zfp709 |
T |
A |
8: 72,643,669 (GRCm39) |
V366E |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,280 (GRCm39) |
C383S |
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 |
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 |
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'- CTCCCAGGAAAGACTTGAACTGC -3'
(R):5'- TTGACCCACATGCTGAAGGG -3'
Sequencing Primer
(F):5'- GGCTGATAGGCTTTCTTCT -3'
(R):5'- CCAGATGGCAGCAATGCAG -3'
|
Posted On |
2022-07-18 |