Incidental Mutation 'R5951:Ttbk2'
| ID |
470866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
B930008N24Rik, 2610507N02Rik, TTK |
| MMRRC Submission |
044141-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120732816-120850604 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120773283 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 256
(S256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
AA Change: S325R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: S325R
| 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: S256R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: S256R
| 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: S256R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: S256R
| 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: S221R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: S221R
| 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: S256R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: S256R
| 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 |
0.0685 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (78/78) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,354,799 (GRCm38) |
E180D |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,244,289 (GRCm38) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,442,501 (GRCm38) |
I4396N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,317,146 (GRCm38) |
S2331L |
possibly damaging |
Het |
| Apoh |
G |
T |
11: 108,395,903 (GRCm38) |
C51F |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,143,063 (GRCm38) |
V177A |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 69,797,285 (GRCm38) |
I343N |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 111,713,400 (GRCm38) |
D654G |
probably benign |
Het |
| Brox |
T |
C |
1: 183,282,508 (GRCm38) |
K245R |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,319,579 (GRCm38) |
S258R |
possibly damaging |
Het |
| Ccdc169 |
A |
C |
3: 55,140,141 (GRCm38) |
K18Q |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,130,201 (GRCm38) |
|
probably benign |
Het |
| Crot |
C |
A |
5: 8,969,120 (GRCm38) |
E478* |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,654,370 (GRCm38) |
M443K |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,737,328 (GRCm38) |
L326Q |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,158,422 (GRCm38) |
I93V |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 34,899,381 (GRCm38) |
T44I |
probably benign |
Het |
| Enc1 |
T |
C |
13: 97,245,257 (GRCm38) |
S92P |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,331,192 (GRCm38) |
|
probably benign |
Het |
| Eya4 |
T |
A |
10: 23,155,994 (GRCm38) |
S244C |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,325,910 (GRCm38) |
R302W |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,436,174 (GRCm38) |
I490F |
possibly damaging |
Het |
| Galntl6 |
A |
G |
8: 57,962,402 (GRCm38) |
V239A |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,165,691 (GRCm38) |
I841V |
possibly damaging |
Het |
| Gm15455 |
T |
C |
1: 33,837,812 (GRCm38) |
|
noncoding transcript |
Het |
| Gpd1l |
C |
T |
9: 114,914,405 (GRCm38) |
M142I |
probably benign |
Het |
| Helb |
A |
G |
10: 120,091,748 (GRCm38) |
V819A |
possibly damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,824,891 (GRCm38) |
F374C |
probably damaging |
Het |
| Hoxc10 |
G |
A |
15: 102,967,318 (GRCm38) |
S154N |
possibly damaging |
Het |
| Ice2 |
A |
T |
9: 69,412,369 (GRCm38) |
T367S |
possibly damaging |
Het |
| Iqca |
A |
T |
1: 90,140,097 (GRCm38) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,651,620 (GRCm38) |
H250L |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,330,803 (GRCm38) |
D1447E |
probably benign |
Het |
| Larp1 |
G |
T |
11: 58,049,939 (GRCm38) |
M630I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,496,323 (GRCm38) |
|
probably null |
Het |
| Map4k3 |
G |
T |
17: 80,603,998 (GRCm38) |
Q673K |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,795,997 (GRCm38) |
N201D |
possibly damaging |
Het |
| Mrpl15 |
C |
A |
1: 4,785,733 (GRCm38) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 4,048,222 (GRCm38) |
V655D |
probably damaging |
Het |
| Odf1 |
T |
C |
15: 38,226,287 (GRCm38) |
Y144H |
probably damaging |
Het |
| Olfr1093 |
G |
T |
2: 86,786,227 (GRCm38) |
V166L |
probably benign |
Het |
| Olfr38 |
G |
T |
6: 42,762,559 (GRCm38) |
C169F |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,814,829 (GRCm38) |
Y594C |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,029,420 (GRCm38) |
D520E |
probably benign |
Het |
| Paox |
G |
A |
7: 140,127,654 (GRCm38) |
C130Y |
probably damaging |
Het |
| Parpbp |
T |
A |
10: 88,139,907 (GRCm38) |
S115C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,671,680 (GRCm38) |
V1438A |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,167,780 (GRCm38) |
D212V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,303,142 (GRCm38) |
F53L |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 116,368,184 (GRCm38) |
D839E |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,883,056 (GRCm38) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 5,088,628 (GRCm38) |
Y1268N |
probably benign |
Het |
| Prelid3a |
C |
T |
18: 67,464,941 (GRCm38) |
S6L |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,303,833 (GRCm38) |
D285A |
possibly damaging |
Het |
| Rasd2 |
T |
G |
8: 75,222,183 (GRCm38) |
Y246D |
probably damaging |
Het |
| Rhbdl2 |
A |
G |
4: 123,814,327 (GRCm38) |
T110A |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,270,255 (GRCm38) |
F217I |
probably damaging |
Het |
| Serhl |
T |
C |
15: 83,103,036 (GRCm38) |
|
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 61,990,007 (GRCm38) |
E613G |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,452,715 (GRCm38) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 7,975,769 (GRCm38) |
I110T |
probably benign |
Het |
| Syde1 |
C |
A |
10: 78,589,316 (GRCm38) |
R287L |
possibly damaging |
Het |
| Tmem184c |
C |
T |
8: 77,598,662 (GRCm38) |
|
probably null |
Het |
| Trmt44 |
C |
A |
5: 35,572,688 (GRCm38) |
|
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,145,510 (GRCm38) |
I322F |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,205,753 (GRCm38) |
|
probably null |
Het |
| Wsb2 |
A |
T |
5: 117,377,535 (GRCm38) |
T402S |
probably damaging |
Het |
|
| Other mutations in Ttbk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ttbk2
|
APN |
2 |
120,748,833 (GRCm38) |
nonsense |
probably null |
|
|
IGL00484:Ttbk2
|
APN |
2 |
120,773,886 (GRCm38) |
nonsense |
probably null |
|
|
IGL00767:Ttbk2
|
APN |
2 |
120,745,745 (GRCm38) |
missense |
probably benign |
|
|
IGL00809:Ttbk2
|
APN |
2 |
120,760,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01484:Ttbk2
|
APN |
2 |
120,739,833 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01974:Ttbk2
|
APN |
2 |
120,786,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02488:Ttbk2
|
APN |
2 |
120,755,871 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02874:Ttbk2
|
APN |
2 |
120,745,712 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02893:Ttbk2
|
APN |
2 |
120,783,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03210:Ttbk2
|
APN |
2 |
120,822,492 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0279:Ttbk2
|
UTSW |
2 |
120,748,960 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0362:Ttbk2
|
UTSW |
2 |
120,745,783 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0376:Ttbk2
|
UTSW |
2 |
120,777,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0400:Ttbk2
|
UTSW |
2 |
120,750,242 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0601:Ttbk2
|
UTSW |
2 |
120,825,296 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0606:Ttbk2
|
UTSW |
2 |
120,773,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0664:Ttbk2
|
UTSW |
2 |
120,748,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0718:Ttbk2
|
UTSW |
2 |
120,748,575 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0718:Ttbk2
|
UTSW |
2 |
120,745,160 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0783:Ttbk2
|
UTSW |
2 |
120,739,977 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0906:Ttbk2
|
UTSW |
2 |
120,783,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1141:Ttbk2
|
UTSW |
2 |
120,806,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1363:Ttbk2
|
UTSW |
2 |
120,806,908 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1420:Ttbk2
|
UTSW |
2 |
120,745,912 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1734:Ttbk2
|
UTSW |
2 |
120,755,838 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2033:Ttbk2
|
UTSW |
2 |
120,806,849 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2047:Ttbk2
|
UTSW |
2 |
120,748,916 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2893:Ttbk2
|
UTSW |
2 |
120,745,610 (GRCm38) |
splice site |
probably null |
|
|
R3783:Ttbk2
|
UTSW |
2 |
120,773,815 (GRCm38) |
splice site |
probably benign |
|
|
R3785:Ttbk2
|
UTSW |
2 |
120,773,815 (GRCm38) |
splice site |
probably benign |
|
|
R3870:Ttbk2
|
UTSW |
2 |
120,740,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4024:Ttbk2
|
UTSW |
2 |
120,760,255 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4039:Ttbk2
|
UTSW |
2 |
120,745,795 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4060:Ttbk2
|
UTSW |
2 |
120,748,984 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4624:Ttbk2
|
UTSW |
2 |
120,773,323 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4634:Ttbk2
|
UTSW |
2 |
120,740,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4708:Ttbk2
|
UTSW |
2 |
120,739,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4727:Ttbk2
|
UTSW |
2 |
120,745,370 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4811:Ttbk2
|
UTSW |
2 |
120,740,070 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4962:Ttbk2
|
UTSW |
2 |
120,745,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Ttbk2
|
UTSW |
2 |
120,773,277 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4966:Ttbk2
|
UTSW |
2 |
120,773,277 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5369:Ttbk2
|
UTSW |
2 |
120,825,262 (GRCm38) |
start gained |
probably benign |
|
|
R5430:Ttbk2
|
UTSW |
2 |
120,777,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5607:Ttbk2
|
UTSW |
2 |
120,806,824 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5812:Ttbk2
|
UTSW |
2 |
120,822,559 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5898:Ttbk2
|
UTSW |
2 |
120,745,040 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6135:Ttbk2
|
UTSW |
2 |
120,750,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6889:Ttbk2
|
UTSW |
2 |
120,773,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6907:Ttbk2
|
UTSW |
2 |
120,825,270 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7013:Ttbk2
|
UTSW |
2 |
120,745,784 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7128:Ttbk2
|
UTSW |
2 |
120,746,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7173:Ttbk2
|
UTSW |
2 |
120,740,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7358:Ttbk2
|
UTSW |
2 |
120,790,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7475:Ttbk2
|
UTSW |
2 |
120,748,640 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7891:Ttbk2
|
UTSW |
2 |
120,786,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8529:Ttbk2
|
UTSW |
2 |
120,773,857 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9050:Ttbk2
|
UTSW |
2 |
120,806,838 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9051:Ttbk2
|
UTSW |
2 |
120,745,430 (GRCm38) |
nonsense |
probably null |
|
|
R9372:Ttbk2
|
UTSW |
2 |
120,773,285 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9485:Ttbk2
|
UTSW |
2 |
120,745,505 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9675:Ttbk2
|
UTSW |
2 |
120,806,760 (GRCm38) |
missense |
probably benign |
0.14 |
|
RF010:Ttbk2
|
UTSW |
2 |
120,790,339 (GRCm38) |
nonsense |
probably null |
|
|
RF021:Ttbk2
|
UTSW |
2 |
120,748,634 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGCACACATTCCACATCAC -3'
(R):5'- TGCATAGCCTGTTTCAATCTTGAC -3'
Sequencing Primer
(F):5'- ACCAGCATCATGTTCATTTCAC -3'
(R):5'- ACAGTGTTAATCGTCAGTGTGTAAGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation