Incidental Mutation 'R1228:Ttbk1'
| ID |
175043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk1
|
| Ensembl Gene |
ENSMUSG00000015599 |
| Gene Name |
tau tubulin kinase 1 |
| Synonyms |
|
| MMRRC Submission |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.589)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46442448-46487675 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 46476712 bp (GRCm38)
|
| 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 |
|---|
| Akap2 |
T |
A |
4: 57,856,909 (GRCm38) |
I787N |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,145,333 (GRCm38) |
S863R |
probably damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,286,391 (GRCm38) |
R455* |
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,622,604 (GRCm38) |
N110S |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,645,412 (GRCm38) |
I806F |
probably benign |
Het |
| Fam189a2 |
A |
G |
19: 23,979,465 (GRCm38) |
S355P |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,423,843 (GRCm38) |
Y431C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,417,778 (GRCm38) |
A488T |
probably damaging |
Het |
| Klhl25 |
C |
T |
7: 75,866,120 (GRCm38) |
A258V |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,121,477 (GRCm38) |
S7G |
probably benign |
Het |
| Pappa |
T |
C |
4: 65,340,689 (GRCm38) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,922,255 (GRCm38) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,224,152 (GRCm38) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,972,098 (GRCm38) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,472,756 (GRCm38) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,791,896 (GRCm38) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 82,174,975 (GRCm38) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,854,452 (GRCm38) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,591,760 (GRCm38) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,634,269 (GRCm38) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,684,445 (GRCm38) |
V81F |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,801,034 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Ttbk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Ttbk1
|
APN |
17 |
46,447,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02469:Ttbk1
|
APN |
17 |
46,470,630 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02826:Ttbk1
|
APN |
17 |
46,470,660 (GRCm38) |
missense |
probably benign |
|
|
IGL02874:Ttbk1
|
APN |
17 |
46,470,225 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02948:Ttbk1
|
APN |
17 |
46,446,330 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL03037:Ttbk1
|
APN |
17 |
46,446,330 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0165:Ttbk1
|
UTSW |
17 |
46,478,938 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1186:Ttbk1
|
UTSW |
17 |
46,467,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1423:Ttbk1
|
UTSW |
17 |
46,446,154 (GRCm38) |
splice site |
probably benign |
|
|
R1477:Ttbk1
|
UTSW |
17 |
46,476,799 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1960:Ttbk1
|
UTSW |
17 |
46,480,224 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1961:Ttbk1
|
UTSW |
17 |
46,480,224 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4043:Ttbk1
|
UTSW |
17 |
46,446,762 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4190:Ttbk1
|
UTSW |
17 |
46,479,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4192:Ttbk1
|
UTSW |
17 |
46,479,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4193:Ttbk1
|
UTSW |
17 |
46,479,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4660:Ttbk1
|
UTSW |
17 |
46,477,788 (GRCm38) |
nonsense |
probably null |
|
|
R5383:Ttbk1
|
UTSW |
17 |
46,467,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5385:Ttbk1
|
UTSW |
17 |
46,447,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5715:Ttbk1
|
UTSW |
17 |
46,479,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6218:Ttbk1
|
UTSW |
17 |
46,470,807 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6263:Ttbk1
|
UTSW |
17 |
46,467,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Ttbk1
|
UTSW |
17 |
46,467,277 (GRCm38) |
missense |
probably benign |
|
|
R6537:Ttbk1
|
UTSW |
17 |
46,470,310 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6552:Ttbk1
|
UTSW |
17 |
46,478,962 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7564:Ttbk1
|
UTSW |
17 |
46,476,931 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7853:Ttbk1
|
UTSW |
17 |
46,447,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7871:Ttbk1
|
UTSW |
17 |
46,446,238 (GRCm38) |
missense |
probably benign |
|
|
R7873:Ttbk1
|
UTSW |
17 |
46,446,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7908:Ttbk1
|
UTSW |
17 |
46,478,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8210:Ttbk1
|
UTSW |
17 |
46,480,161 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8236:Ttbk1
|
UTSW |
17 |
46,470,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8754:Ttbk1
|
UTSW |
17 |
46,445,201 (GRCm38) |
nonsense |
probably null |
|
|
R8829:Ttbk1
|
UTSW |
17 |
46,446,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8870:Ttbk1
|
UTSW |
17 |
46,470,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9091:Ttbk1
|
UTSW |
17 |
46,470,591 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9135:Ttbk1
|
UTSW |
17 |
46,479,206 (GRCm38) |
nonsense |
probably null |
|
|
R9270:Ttbk1
|
UTSW |
17 |
46,470,591 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9605:Ttbk1
|
UTSW |
17 |
46,473,590 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9609:Ttbk1
|
UTSW |
17 |
46,447,222 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9617:Ttbk1
|
UTSW |
17 |
46,447,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0066:Ttbk1
|
UTSW |
17 |
46,446,856 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
Z1088:Ttbk1
|
UTSW |
17 |
46,446,325 (GRCm38) |
missense |
probably benign |
0.35 |
|
Z1176:Ttbk1
|
UTSW |
17 |
46,460,911 (GRCm38) |
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 |
Incidental Mutation