Incidental Mutation 'R4198:Tbkbp1'
| ID |
318644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbkbp1
|
| Ensembl Gene |
ENSMUSG00000038517 |
| Gene Name |
TBK1 binding protein 1 |
| Synonyms |
3110043L15Rik |
| MMRRC Submission |
041640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4198 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97026997-97042321 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 97039894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066078]
[ENSMUST00000066078]
[ENSMUST00000107613]
[ENSMUST00000107614]
[ENSMUST00000107614]
[ENSMUST00000107615]
[ENSMUST00000107615]
[ENSMUST00000118375]
[ENSMUST00000118375]
[ENSMUST00000146374]
[ENSMUST00000146374]
|
| AlphaFold |
A2A9T0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066078
|
| SMART Domains |
Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
218 |
278 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
287 |
342 |
2.8e-24 |
PFAM |
|
low complexity region
|
343 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066078
|
| SMART Domains |
Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
218 |
278 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
287 |
342 |
2.8e-24 |
PFAM |
|
low complexity region
|
343 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107613
|
| SMART Domains |
Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107614
|
| SMART Domains |
Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
218 |
278 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
289 |
343 |
4.1e-21 |
PFAM |
|
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107614
|
| SMART Domains |
Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
218 |
278 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
289 |
343 |
4.1e-21 |
PFAM |
|
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107615
|
| SMART Domains |
Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
277 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
286 |
341 |
4e-25 |
PFAM |
|
low complexity region
|
342 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107615
|
| SMART Domains |
Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
277 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
286 |
341 |
4e-25 |
PFAM |
|
low complexity region
|
342 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118375
|
| SMART Domains |
Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
277 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
286 |
341 |
4e-25 |
PFAM |
|
low complexity region
|
342 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118375
|
| SMART Domains |
Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
277 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
286 |
341 |
4e-25 |
PFAM |
|
low complexity region
|
342 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146374
|
| SMART Domains |
Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146374
|
| SMART Domains |
Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183796
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal GM-CSF-derived bone marrow-derived dendritic cell differentiation and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,124,766 (GRCm39) |
M1002I |
probably benign |
Het |
| Ap2b1 |
C |
A |
11: 83,233,429 (GRCm39) |
Q481K |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,463,434 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,332,928 (GRCm39) |
T201I |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,382 (GRCm39) |
V181A |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,032,496 (GRCm39) |
I488T |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,404,717 (GRCm39) |
T2368A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,315,702 (GRCm39) |
I1113F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,655,699 (GRCm39) |
N1020D |
probably benign |
Het |
| Gprc5c |
T |
G |
11: 114,754,686 (GRCm39) |
L121R |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,448,835 (GRCm39) |
*352Q |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnpk |
T |
C |
2: 74,399,453 (GRCm39) |
E30G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,025 (GRCm39) |
M79L |
probably benign |
Het |
| Or2y11 |
G |
A |
11: 49,443,461 (GRCm39) |
V296M |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,264,680 (GRCm39) |
M792T |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,948 (GRCm39) |
I339V |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Snx20 |
A |
G |
8: 89,354,226 (GRCm39) |
V168A |
possibly damaging |
Het |
| Sowaha |
T |
C |
11: 53,369,395 (GRCm39) |
E447G |
possibly damaging |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Stx19 |
G |
T |
16: 62,643,039 (GRCm39) |
C285F |
possibly damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,240,226 (GRCm39) |
M598V |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,685,125 (GRCm39) |
I165V |
probably benign |
Het |
|
| Other mutations in Tbkbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Tbkbp1
|
APN |
11 |
97,028,474 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01071:Tbkbp1
|
APN |
11 |
97,040,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0017:Tbkbp1
|
UTSW |
11 |
97,037,115 (GRCm39) |
unclassified |
probably benign |
|
|
R0445:Tbkbp1
|
UTSW |
11 |
97,040,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Tbkbp1
|
UTSW |
11 |
97,039,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Tbkbp1
|
UTSW |
11 |
97,039,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Tbkbp1
|
UTSW |
11 |
97,039,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Tbkbp1
|
UTSW |
11 |
97,029,567 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4910:Tbkbp1
|
UTSW |
11 |
97,029,956 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4947:Tbkbp1
|
UTSW |
11 |
97,029,770 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5571:Tbkbp1
|
UTSW |
11 |
97,039,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Tbkbp1
|
UTSW |
11 |
97,038,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Tbkbp1
|
UTSW |
11 |
97,037,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Tbkbp1
|
UTSW |
11 |
97,029,578 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7678:Tbkbp1
|
UTSW |
11 |
97,040,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Tbkbp1
|
UTSW |
11 |
97,038,559 (GRCm39) |
unclassified |
probably benign |
|
|
R8425:Tbkbp1
|
UTSW |
11 |
97,029,677 (GRCm39) |
missense |
unknown |
|
|
R8495:Tbkbp1
|
UTSW |
11 |
97,037,429 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8900:Tbkbp1
|
UTSW |
11 |
97,040,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8964:Tbkbp1
|
UTSW |
11 |
97,037,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9006:Tbkbp1
|
UTSW |
11 |
97,029,707 (GRCm39) |
missense |
unknown |
|
|
X0020:Tbkbp1
|
UTSW |
11 |
97,039,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tbkbp1
|
UTSW |
11 |
97,040,354 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTGAAGCTGATTTAGGG -3'
(R):5'- CTGAAGAAGTGGCTGCCTTG -3'
Sequencing Primer
(F):5'- CTGAAGCTGATTTAGGGAAGGC -3'
(R):5'- CCTTGGGGATGAGGAGCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation