Incidental Mutation 'R4190:Ttbk1'
ID |
319938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk1
|
Ensembl Gene |
ENSMUSG00000015599 |
Gene Name |
tau tubulin kinase 1 |
Synonyms |
C330008L01Rik |
MMRRC Submission |
041021-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.529)
|
Stock # |
R4190 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46753374-46798601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46790173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 91
(C91S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
[ENSMUST00000223818]
[ENSMUST00000225808]
|
AlphaFold |
Q6PCN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047034
AA Change: C91S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044580 Gene: ENSMUSG00000015599 AA Change: C91S
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 damaging
Transcript: ENSMUST00000225808
AA Change: C91S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.9286 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (50/52) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
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 |
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 |
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'- ATTCACCACCCAGCCTTG -3'
(R):5'- GCTGGGTGTAGTATACATACACA -3'
Sequencing Primer
(F):5'- CACCCAGCCTTGCCCCC -3'
(R):5'- TACAGAGATACAGTCACAGAGAGCTC -3'
|
Posted On |
2015-06-10 |