Incidental Mutation 'R1423:Ttbk1'
| ID |
161193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk1
|
| Ensembl Gene |
ENSMUSG00000015599 |
| Gene Name |
tau tubulin kinase 1 |
| Synonyms |
C330008L01Rik |
| MMRRC Submission |
039479-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R1423 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 46757080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
|
| AlphaFold |
Q6PCN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047034
|
| SMART Domains |
Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,988,896 (GRCm39) |
E691G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
| Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
| Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
| Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
| Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
| Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
| Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
| Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
| Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
| Mrtfb |
T |
C |
16: 13,230,105 (GRCm39) |
V930A |
possibly damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
| Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
| Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
| Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,392 (GRCm39) |
R1074H |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
| Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
| Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,233,090 (GRCm39) |
M241T |
probably damaging |
Het |
| Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,488 (GRCm39) |
L9Q |
probably benign |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
probably damaging |
Het |
|
| Other mutations in Ttbk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Ttbk1
|
APN |
17 |
46,757,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGAACTGGCACTTGAACCAC -3'
(R):5'- CCCAGAAGCCGTATTCCTGTCTTG -3'
Sequencing Primer
(F):5'- TTGAACCACAAGTGACACAGTG -3'
(R):5'- TGAGACACTCTCAGGCACTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation