Incidental Mutation 'IGL02948:Ttbk1'
ID |
364830 |
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 # |
IGL02948
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46757256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1126
(T1126I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
|
AlphaFold |
Q6PCN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047034
AA Change: T1126I
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000044580 Gene: ENSMUSG00000015599 AA Change: T1126I
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,094,318 (GRCm39) |
|
probably benign |
Het |
Ano3 |
A |
T |
2: 110,527,363 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
C |
9: 112,005,268 (GRCm39) |
Y193C |
probably damaging |
Het |
Atm |
G |
A |
9: 53,364,740 (GRCm39) |
|
probably benign |
Het |
Ceacam13 |
C |
T |
7: 17,744,988 (GRCm39) |
|
probably benign |
Het |
Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
Clec7a |
A |
C |
6: 129,442,441 (GRCm39) |
D195E |
possibly damaging |
Het |
Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
Cntn1 |
A |
G |
15: 92,143,891 (GRCm39) |
T285A |
probably benign |
Het |
Dusp4 |
G |
T |
8: 35,285,726 (GRCm39) |
G329V |
probably damaging |
Het |
Emb |
C |
A |
13: 117,409,602 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,355,040 (GRCm39) |
S496T |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,112,648 (GRCm39) |
T1681A |
probably damaging |
Het |
Fam131b |
A |
C |
6: 42,297,926 (GRCm39) |
|
probably benign |
Het |
Fam162b |
T |
C |
10: 51,463,392 (GRCm39) |
M92V |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,695,723 (GRCm39) |
*455W |
probably null |
Het |
Gm12886 |
A |
G |
4: 121,280,234 (GRCm39) |
L14P |
unknown |
Het |
Gpc4 |
A |
T |
X: 51,163,178 (GRCm39) |
V235E |
probably damaging |
Het |
Gss |
A |
G |
2: 155,419,541 (GRCm39) |
L170P |
probably damaging |
Het |
Hbs1l |
C |
T |
10: 21,217,610 (GRCm39) |
|
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,857 (GRCm39) |
M92V |
probably benign |
Het |
Hhla1 |
A |
T |
15: 65,814,542 (GRCm39) |
L194H |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,757 (GRCm39) |
R452S |
probably benign |
Het |
Homer2 |
C |
A |
7: 81,299,393 (GRCm39) |
W24L |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,050,050 (GRCm39) |
L492H |
probably damaging |
Het |
Lrba |
C |
A |
3: 86,217,691 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,318,181 (GRCm39) |
P2090Q |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Madd |
T |
A |
2: 90,973,172 (GRCm39) |
M1497L |
probably benign |
Het |
Naprt |
C |
T |
15: 75,764,206 (GRCm39) |
R336Q |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,638,266 (GRCm39) |
C266R |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,874,145 (GRCm39) |
Y253* |
probably null |
Het |
Or5k8 |
T |
A |
16: 58,644,451 (GRCm39) |
Q207L |
probably benign |
Het |
Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,942,507 (GRCm39) |
N86S |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,980,135 (GRCm39) |
T402A |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,943,598 (GRCm39) |
|
probably benign |
Het |
Ropn1l |
T |
C |
15: 31,451,325 (GRCm39) |
D53G |
possibly damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
Rtn2 |
T |
C |
7: 19,027,036 (GRCm39) |
S17P |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,373 (GRCm39) |
V327A |
probably benign |
Het |
Slc22a16 |
T |
G |
10: 40,449,958 (GRCm39) |
Y131* |
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,288,458 (GRCm39) |
M583K |
possibly damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,961 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,582 (GRCm39) |
R823G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
Tmem104 |
G |
T |
11: 115,088,122 (GRCm39) |
A36S |
probably damaging |
Het |
Trim55 |
T |
A |
3: 19,725,116 (GRCm39) |
L211Q |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
Unc13a |
C |
T |
8: 72,103,193 (GRCm39) |
R931H |
possibly damaging |
Het |
Utp4 |
T |
A |
8: 107,621,273 (GRCm39) |
S17T |
probably benign |
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 |
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 |
2015-12-18 |