Incidental Mutation 'IGL01869:Ttbk1'
| ID |
178649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttbk1
|
| Ensembl Gene |
ENSMUSG00000015599 |
| Gene Name |
tau tubulin kinase 1 |
| Synonyms |
C330008L01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
IGL01869
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46757989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 882
(S882P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
|
| AlphaFold |
Q6PCN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047034
AA Change: S882P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: S882P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
34 |
293 |
3.4e-21 |
PFAM |
|
Pfam:Pkinase
|
34 |
305 |
1.7e-33 |
PFAM |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
709 |
N/A |
INTRINSIC |
|
coiled coil region
|
729 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
962 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700026F02Rik |
A |
G |
8: 71,495,689 (GRCm39) |
|
noncoding transcript |
Het |
| Adam29 |
T |
C |
8: 56,324,732 (GRCm39) |
H574R |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,049,490 (GRCm39) |
T984K |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,521,837 (GRCm39) |
S396T |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,700,770 (GRCm39) |
K2587E |
unknown |
Het |
| Cyp3a44 |
A |
G |
5: 145,727,496 (GRCm39) |
S278P |
probably damaging |
Het |
| Daw1 |
T |
G |
1: 83,159,965 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,502 (GRCm39) |
K3200R |
probably benign |
Het |
| Efhd2 |
A |
G |
4: 141,601,913 (GRCm39) |
F89S |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,856,642 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,979 (GRCm39) |
D68G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,954 (GRCm39) |
C134S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,217,198 (GRCm39) |
T178A |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,657,820 (GRCm39) |
N312S |
possibly damaging |
Het |
| Npepps |
T |
C |
11: 97,126,948 (GRCm39) |
I437M |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,534 (GRCm39) |
D276G |
probably benign |
Het |
| Or11i1 |
C |
T |
3: 106,729,342 (GRCm39) |
D178N |
probably benign |
Het |
| Rcor1 |
C |
A |
12: 111,070,193 (GRCm39) |
T330K |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
| Sema3g |
A |
G |
14: 30,945,624 (GRCm39) |
E478G |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,641,741 (GRCm39) |
*460R |
probably null |
Het |
| Syde1 |
A |
G |
10: 78,424,753 (GRCm39) |
C360R |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,256,268 (GRCm39) |
V197A |
possibly damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,646,274 (GRCm39) |
V1405A |
possibly damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,006,269 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,750 (GRCm39) |
N157Y |
probably damaging |
Het |
| Vmn1r60 |
C |
T |
7: 5,547,228 (GRCm39) |
V291M |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo5 |
C |
T |
17: 46,553,133 (GRCm39) |
P1184L |
possibly damaging |
Het |
| Zfp946 |
T |
G |
17: 22,673,684 (GRCm39) |
I146S |
probably benign |
Het |
|
| Other mutations in Ttbk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02469:Ttbk1
|
APN |
17 |
46,781,556 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02826:Ttbk1
|
APN |
17 |
46,781,586 (GRCm39) |
missense |
probably benign |
|
|
IGL02874:Ttbk1
|
APN |
17 |
46,781,151 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02948:Ttbk1
|
APN |
17 |
46,757,256 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03037:Ttbk1
|
APN |
17 |
46,757,256 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0165:Ttbk1
|
UTSW |
17 |
46,789,864 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1186:Ttbk1
|
UTSW |
17 |
46,778,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Ttbk1
|
UTSW |
17 |
46,787,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1423:Ttbk1
|
UTSW |
17 |
46,757,080 (GRCm39) |
splice site |
probably benign |
|
|
R1477:Ttbk1
|
UTSW |
17 |
46,787,725 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1960:Ttbk1
|
UTSW |
17 |
46,791,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Ttbk1
|
UTSW |
17 |
46,791,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4043:Ttbk1
|
UTSW |
17 |
46,757,688 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4190:Ttbk1
|
UTSW |
17 |
46,790,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Ttbk1
|
UTSW |
17 |
46,790,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Ttbk1
|
UTSW |
17 |
46,790,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Ttbk1
|
UTSW |
17 |
46,788,714 (GRCm39) |
nonsense |
probably null |
|
|
R5383:Ttbk1
|
UTSW |
17 |
46,778,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ttbk1
|
UTSW |
17 |
46,758,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5715:Ttbk1
|
UTSW |
17 |
46,790,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6218:Ttbk1
|
UTSW |
17 |
46,781,733 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6263:Ttbk1
|
UTSW |
17 |
46,778,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Ttbk1
|
UTSW |
17 |
46,778,203 (GRCm39) |
missense |
probably benign |
|
|
R6537:Ttbk1
|
UTSW |
17 |
46,781,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6552:Ttbk1
|
UTSW |
17 |
46,789,888 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7564:Ttbk1
|
UTSW |
17 |
46,787,857 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7853:Ttbk1
|
UTSW |
17 |
46,758,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7871:Ttbk1
|
UTSW |
17 |
46,757,164 (GRCm39) |
missense |
probably benign |
|
|
R7873:Ttbk1
|
UTSW |
17 |
46,757,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Ttbk1
|
UTSW |
17 |
46,789,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Ttbk1
|
UTSW |
17 |
46,791,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8236:Ttbk1
|
UTSW |
17 |
46,781,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Ttbk1
|
UTSW |
17 |
46,756,127 (GRCm39) |
nonsense |
probably null |
|
|
R8829:Ttbk1
|
UTSW |
17 |
46,757,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Ttbk1
|
UTSW |
17 |
46,781,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Ttbk1
|
UTSW |
17 |
46,781,517 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9135:Ttbk1
|
UTSW |
17 |
46,790,132 (GRCm39) |
nonsense |
probably null |
|
|
R9270:Ttbk1
|
UTSW |
17 |
46,781,517 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9605:Ttbk1
|
UTSW |
17 |
46,784,516 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9609:Ttbk1
|
UTSW |
17 |
46,758,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9617:Ttbk1
|
UTSW |
17 |
46,757,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ttbk1
|
UTSW |
17 |
46,757,782 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1088:Ttbk1
|
UTSW |
17 |
46,757,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Ttbk1
|
UTSW |
17 |
46,771,837 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2014-05-07 |
Incidental Mutation