Incidental Mutation 'R5369:Ttbk2'
| ID |
429521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
| MMRRC Submission |
042946-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 120655743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
silent
Transcript: ENSMUST00000028740
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
| 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
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
| 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
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
| 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 |
noncoding transcript
Transcript: ENSMUST00000141921
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (77/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,545,796 (GRCm39) |
T444A |
probably damaging |
Het |
| A330070K13Rik |
G |
A |
5: 130,407,932 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Acbd5 |
T |
A |
2: 23,002,522 (GRCm39) |
L508Q |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,562,563 (GRCm39) |
V175A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,010 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
C |
15: 76,004,422 (GRCm39) |
S711R |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,984,526 (GRCm39) |
I508T |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,726,959 (GRCm39) |
R524* |
probably null |
Het |
| C3 |
C |
A |
17: 57,528,159 (GRCm39) |
D687Y |
probably benign |
Het |
| Ccbe1 |
G |
A |
18: 66,194,485 (GRCm39) |
A367V |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,326 (GRCm39) |
M68K |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,327 (GRCm39) |
|
probably benign |
Het |
| Celf2 |
C |
A |
2: 7,085,892 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,897,119 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,622,687 (GRCm39) |
K26E |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,299,032 (GRCm39) |
I48F |
probably benign |
Het |
| Cnot7 |
A |
T |
8: 40,947,061 (GRCm39) |
N238K |
probably benign |
Het |
| Colec12 |
A |
G |
18: 9,866,750 (GRCm39) |
I654V |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,128,194 (GRCm39) |
I22T |
probably damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,910,645 (GRCm39) |
T1375M |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,042 (GRCm39) |
G725D |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,566,304 (GRCm39) |
E496G |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,499,637 (GRCm39) |
S573T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,415 (GRCm39) |
V593A |
probably benign |
Het |
| Focad |
T |
A |
4: 88,039,610 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,919,976 (GRCm39) |
I460T |
possibly damaging |
Het |
| Galnt10 |
T |
G |
11: 57,656,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
A |
T |
7: 40,867,635 (GRCm39) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,037,330 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7935 |
A |
T |
15: 73,952,963 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Gstm5 |
G |
A |
3: 107,805,782 (GRCm39) |
A198T |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,832,448 (GRCm39) |
V3048D |
probably damaging |
Het |
| Htra4 |
T |
G |
8: 25,523,585 (GRCm39) |
I327L |
possibly damaging |
Het |
| Ifi209 |
T |
C |
1: 173,464,873 (GRCm39) |
M1T |
probably null |
Het |
| Ints6 |
T |
C |
14: 62,981,384 (GRCm39) |
T135A |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,496,385 (GRCm39) |
I2604N |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,600,993 (GRCm39) |
M268L |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,894,625 (GRCm39) |
S2201* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,289,904 (GRCm39) |
N3645S |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,722 (GRCm39) |
I539N |
possibly damaging |
Het |
| Map3k6 |
T |
C |
4: 132,974,992 (GRCm39) |
I675T |
probably damaging |
Het |
| Map3k9 |
T |
A |
12: 81,768,826 (GRCm39) |
E1074V |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,862,075 (GRCm39) |
S339R |
probably benign |
Het |
| Mrps18a |
T |
C |
17: 46,436,552 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,654 (GRCm39) |
E466G |
probably damaging |
Het |
| Nat8f2 |
G |
T |
6: 85,844,854 (GRCm39) |
Y169* |
probably null |
Het |
| Nlrp1b |
A |
G |
11: 71,072,625 (GRCm39) |
I406T |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,167,705 (GRCm39) |
|
probably null |
Het |
| Or10z1 |
A |
G |
1: 174,078,007 (GRCm39) |
V162A |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,743 (GRCm39) |
M39K |
probably damaging |
Het |
| Ostf1 |
C |
T |
19: 18,558,689 (GRCm39) |
G198E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,558,619 (GRCm39) |
V596A |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,202,754 (GRCm39) |
*647Q |
probably null |
Het |
| Pkm |
A |
T |
9: 59,577,917 (GRCm39) |
I245F |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,009,940 (GRCm39) |
R131S |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,299,985 (GRCm39) |
H179R |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,739 (GRCm39) |
S1356T |
probably benign |
Het |
| Rbm45 |
T |
A |
2: 76,200,594 (GRCm39) |
L41Q |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
T |
14: 103,823,929 (GRCm39) |
I386F |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,809,487 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Sirt3 |
A |
T |
7: 140,449,406 (GRCm39) |
L180Q |
probably damaging |
Het |
| Slc24a2 |
C |
T |
4: 86,909,625 (GRCm39) |
V698I |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,788,067 (GRCm39) |
H483L |
probably damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,262 (GRCm39) |
D25G |
probably benign |
Het |
| Snrnp40 |
T |
C |
4: 130,256,439 (GRCm39) |
S55P |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,855 (GRCm39) |
C399S |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,341 (GRCm39) |
V108A |
possibly damaging |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,672 (GRCm39) |
N295K |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,807,491 (GRCm39) |
P1851L |
possibly damaging |
Het |
| Zfp472 |
A |
T |
17: 33,196,717 (GRCm39) |
D264V |
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 |
|
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 |
|
| Posted On |
2016-09-06 |
Incidental Mutation