Incidental Mutation 'R6512:Tbk1'
| ID |
519956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbk1
|
| Ensembl Gene |
ENSMUSG00000020115 |
| Gene Name |
TANK-binding kinase 1 |
| Synonyms |
1200008B05Rik |
| MMRRC Submission |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121382360-121422692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121414526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 63
(N63Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020316]
[ENSMUST00000219400]
[ENSMUST00000219493]
|
| AlphaFold |
Q9WUN2 |
| PDB Structure |
Crystal structure of mouse TBK1 bound to BX795 [X-RAY DIFFRACTION]
Crystal structure of mouse TBK1 bound to SU6668 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020316
AA Change: N63Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: N63Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
9 |
300 |
2.6e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
10 |
250 |
1.5e-27 |
PFAM |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219400
AA Change: N63Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219493
AA Change: N11Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1837 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(23) : Targeted(5) Gene trapped(18)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
| Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
probably benign |
Het |
|
| Other mutations in Tbk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Tbk1
|
APN |
10 |
121,388,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01021:Tbk1
|
APN |
10 |
121,387,177 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01371:Tbk1
|
APN |
10 |
121,395,776 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01383:Tbk1
|
APN |
10 |
121,412,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Tbk1
|
APN |
10 |
121,393,134 (GRCm39) |
missense |
probably benign |
|
|
IGL01734:Tbk1
|
APN |
10 |
121,407,888 (GRCm39) |
nonsense |
probably null |
|
|
IGL02068:Tbk1
|
APN |
10 |
121,406,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Tbk1
|
APN |
10 |
121,403,985 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02737:Tbk1
|
APN |
10 |
121,395,767 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL03334:Tbk1
|
APN |
10 |
121,420,104 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Pathfinder
|
UTSW |
10 |
121,388,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
pioneer
|
UTSW |
10 |
121,414,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trailblazer
|
UTSW |
10 |
121,406,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Tbk1
|
UTSW |
10 |
121,393,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Tbk1
|
UTSW |
10 |
121,393,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0030:Tbk1
|
UTSW |
10 |
121,397,529 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0386:Tbk1
|
UTSW |
10 |
121,420,159 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1396:Tbk1
|
UTSW |
10 |
121,407,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Tbk1
|
UTSW |
10 |
121,395,839 (GRCm39) |
missense |
probably benign |
|
|
R1522:Tbk1
|
UTSW |
10 |
121,387,223 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1542:Tbk1
|
UTSW |
10 |
121,395,840 (GRCm39) |
missense |
probably benign |
|
|
R1717:Tbk1
|
UTSW |
10 |
121,397,550 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1860:Tbk1
|
UTSW |
10 |
121,383,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2188:Tbk1
|
UTSW |
10 |
121,399,836 (GRCm39) |
nonsense |
probably null |
|
|
R2519:Tbk1
|
UTSW |
10 |
121,393,164 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4627:Tbk1
|
UTSW |
10 |
121,403,985 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4945:Tbk1
|
UTSW |
10 |
121,387,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5061:Tbk1
|
UTSW |
10 |
121,412,241 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5256:Tbk1
|
UTSW |
10 |
121,406,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Tbk1
|
UTSW |
10 |
121,391,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6187:Tbk1
|
UTSW |
10 |
121,420,148 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6425:Tbk1
|
UTSW |
10 |
121,399,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6897:Tbk1
|
UTSW |
10 |
121,395,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7268:Tbk1
|
UTSW |
10 |
121,388,404 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7609:Tbk1
|
UTSW |
10 |
121,388,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7860:Tbk1
|
UTSW |
10 |
121,388,151 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7929:Tbk1
|
UTSW |
10 |
121,393,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8378:Tbk1
|
UTSW |
10 |
121,414,597 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9680:Tbk1
|
UTSW |
10 |
121,389,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Tbk1
|
UTSW |
10 |
121,396,198 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCATTAGAGAAGTGCTGTGGATAC -3'
(R):5'- TGAGTGCTGAGAGGGTACAC -3'
Sequencing Primer
(F):5'- GGATACAACACTAGGTTACAAGAGCC -3'
(R):5'- TGTGAGCTGAGAGGGTACACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation