Incidental Mutation 'R1228:Ttbk1'
ID |
175043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk1
|
Ensembl Gene |
ENSMUSG00000015599 |
Gene Name |
tau tubulin kinase 1 |
Synonyms |
C330008L01Rik |
MMRRC Submission |
039297-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.529)
|
Stock # |
R1228 (G1)
|
Quality Score |
215 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 46787638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
[ENSMUST00000047034]
[ENSMUST00000223818]
[ENSMUST00000225808]
|
AlphaFold |
Q6PCN3 |
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224870
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225808
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTGATACCGGGAAGATCAGC -3'
(R):5'- AGAAGTCTCCCAGAAAAGGGTCCAC -3'
Sequencing Primer
(F):5'- CTTGGGGGGCAATCTTGAAA -3'
(R):5'- CCATGATGACCTGTGGTCC -3'
|
Posted On |
2014-04-24 |