Incidental Mutation 'R6552:Ttbk1'
| ID |
521746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk1
|
| Ensembl Gene |
ENSMUSG00000015599 |
| Gene Name |
tau tubulin kinase 1 |
| Synonyms |
C330008L01Rik |
| MMRRC Submission |
044677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
R6552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46789888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 125
(T125N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
[ENSMUST00000223818]
[ENSMUST00000225808]
|
| AlphaFold |
Q6PCN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047034
AA Change: T125N
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: T125N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225808
AA Change: T125N
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
| Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
| Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
| Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
| Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,012,032 (GRCm39) |
Y163H |
probably damaging |
Het |
| Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
| Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
| Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,693,165 (GRCm39) |
H247R |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,311 (GRCm39) |
M404V |
possibly damaging |
Het |
| Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,673,953 (GRCm39) |
E748K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
| Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
| Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
| Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
| Slc23a1 |
C |
A |
18: 35,755,391 (GRCm39) |
G475C |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
| Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
| Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
| Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
possibly 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 |
|
|
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 |
|
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'- TGCTCAAAGAGAGGAGGCTC -3'
(R):5'- ATGTGGTGATGCAGCTCCAG -3'
Sequencing Primer
(F):5'- TCTGAGGGCCCAGCACTG -3'
(R):5'- TCTTTGCCCAAGAGCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation