Incidental Mutation 'R9050:Ttbk2'
ID |
688282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
068876-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9050 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120637319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 115
(N115K)
|
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: N115K
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: N115K
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: N46K
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: N46K
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: N46K
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: N46K
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: N46K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: N46K
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: N46K
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: N46K
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
96% (53/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,208,605 (GRCm39) |
Y332H |
probably benign |
Het |
Apoc3 |
A |
G |
9: 46,144,592 (GRCm39) |
F77L |
probably benign |
Het |
Atp5f1c |
A |
T |
2: 10,069,049 (GRCm39) |
D99E |
probably damaging |
Het |
Atxn3 |
A |
T |
12: 101,924,387 (GRCm39) |
|
probably benign |
Het |
Calcoco1 |
A |
G |
15: 102,618,400 (GRCm39) |
V463A |
probably damaging |
Het |
Cby3 |
A |
G |
11: 50,248,617 (GRCm39) |
T20A |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,883,133 (GRCm39) |
D1256G |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,738,687 (GRCm39) |
D2385E |
possibly damaging |
Het |
Clec9a |
G |
C |
6: 129,396,561 (GRCm39) |
A170P |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,697,691 (GRCm39) |
G871S |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,635,099 (GRCm39) |
S159P |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,798,659 (GRCm39) |
F272L |
probably benign |
Het |
Glp1r |
G |
A |
17: 31,137,892 (GRCm39) |
G108S |
probably damaging |
Het |
Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
Hps5 |
T |
C |
7: 46,422,607 (GRCm39) |
D574G |
probably benign |
Het |
Il7 |
A |
G |
3: 7,669,170 (GRCm39) |
V22A |
possibly damaging |
Het |
Kmt5c |
A |
G |
7: 4,745,281 (GRCm39) |
T91A |
probably benign |
Het |
Mrpl39 |
A |
C |
16: 84,531,844 (GRCm39) |
|
probably benign |
Het |
Mtr |
T |
C |
13: 12,231,748 (GRCm39) |
D652G |
probably null |
Het |
Neb |
C |
T |
2: 52,079,901 (GRCm39) |
V5768M |
probably damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nicol1 |
G |
C |
5: 34,140,874 (GRCm39) |
A29P |
unknown |
Het |
Nmrk1 |
T |
A |
19: 18,618,539 (GRCm39) |
M74K |
probably benign |
Het |
Obox8 |
A |
G |
7: 14,066,870 (GRCm39) |
L58P |
unknown |
Het |
Oga |
T |
C |
19: 45,756,354 (GRCm39) |
T430A |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,820 (GRCm39) |
Y164H |
probably damaging |
Het |
Or2b2 |
A |
G |
13: 21,887,150 (GRCm39) |
|
probably benign |
Het |
Or2y1e |
T |
C |
11: 49,218,930 (GRCm39) |
S231P |
possibly damaging |
Het |
Or5p62 |
A |
C |
7: 107,771,087 (GRCm39) |
L288W |
probably damaging |
Het |
Pcdhb17 |
T |
G |
18: 37,620,286 (GRCm39) |
V692G |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,882,567 (GRCm39) |
V829A |
probably benign |
Het |
Pramel24 |
A |
T |
4: 143,453,329 (GRCm39) |
T146S |
probably benign |
Het |
Pth |
A |
G |
7: 112,985,043 (GRCm39) |
V110A |
probably benign |
Het |
Rabggta |
T |
A |
14: 55,959,056 (GRCm39) |
Q37L |
probably benign |
Het |
Rin3 |
A |
G |
12: 102,335,738 (GRCm39) |
T550A |
probably damaging |
Het |
Scn8a |
G |
A |
15: 100,906,161 (GRCm39) |
V785I |
possibly damaging |
Het |
Sec24d |
T |
C |
3: 123,144,374 (GRCm39) |
V617A |
probably benign |
Het |
Slc47a1 |
T |
C |
11: 61,235,160 (GRCm39) |
I558V |
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,252,516 (GRCm39) |
M560L |
possibly damaging |
Het |
Slfn9 |
G |
A |
11: 82,879,120 (GRCm39) |
T3I |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,935,294 (GRCm39) |
H35R |
probably damaging |
Het |
Spats2 |
G |
T |
15: 99,110,010 (GRCm39) |
R469L |
possibly damaging |
Het |
Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
Ssx2ip |
C |
T |
3: 146,144,512 (GRCm39) |
S592L |
possibly damaging |
Het |
Ston1 |
A |
G |
17: 88,944,228 (GRCm39) |
T545A |
probably benign |
Het |
Suz12 |
C |
T |
11: 79,913,023 (GRCm39) |
L379F |
probably damaging |
Het |
Tbc1d24 |
C |
A |
17: 24,404,899 (GRCm39) |
V82L |
probably benign |
Het |
Tbc1d24 |
A |
T |
17: 24,404,898 (GRCm39) |
V82E |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,736,629 (GRCm39) |
I884T |
probably damaging |
Het |
Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
Togaram2 |
T |
C |
17: 72,007,878 (GRCm39) |
L401P |
probably damaging |
Het |
Tubgcp4 |
G |
A |
2: 121,004,079 (GRCm39) |
S40N |
probably benign |
Het |
Wrn |
T |
C |
8: 33,833,021 (GRCm39) |
D157G |
probably damaging |
Het |
Zer1 |
A |
T |
2: 30,001,294 (GRCm39) |
F70Y |
probably damaging |
Het |
Zfp791 |
T |
C |
8: 85,837,334 (GRCm39) |
I177V |
possibly 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 |
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'- CCAGAGTGGTCCATTAGTATAGAG -3'
(R):5'- CTGTAGACAAATCTGTAGGACAGTG -3'
Sequencing Primer
(F):5'- AGCAACTTACCTTGCAGT -3'
(R):5'- TGTGTTTTTCTTGCTGTATAAATGAC -3'
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Posted On |
2021-11-19 |