Incidental Mutation 'IGL01071:Tbkbp1'
| ID |
52224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbkbp1
|
| Ensembl Gene |
ENSMUSG00000038517 |
| Gene Name |
TBK1 binding protein 1 |
| Synonyms |
3110043L15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97026997-97042321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97040388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 9
(I9V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066078]
[ENSMUST00000107613]
[ENSMUST00000107614]
[ENSMUST00000107615]
[ENSMUST00000118375]
[ENSMUST00000146374]
|
| AlphaFold |
A2A9T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066078
AA Change: I9V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 |
possibly damaging
Transcript: ENSMUST00000107613
AA Change: I9V
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 damaging
Transcript: ENSMUST00000107614
AA Change: I9V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 damaging
Transcript: ENSMUST00000107615
AA Change: I9V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 damaging
Transcript: ENSMUST00000118375
AA Change: I9V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 |
possibly damaging
Transcript: ENSMUST00000146374
AA Change: I9V
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517
AA Change: I9V
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
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 |
|
|
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 |
|
R4198:Tbkbp1
|
UTSW |
11 |
97,039,894 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation