Incidental Mutation 'R6595:Tbkbp1'
| ID |
543496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbkbp1
|
| Ensembl Gene |
ENSMUSG00000038517 |
| Gene Name |
TBK1 binding protein 1 |
| Synonyms |
3110043L15Rik |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
63.0073 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97026997-97042321 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to A
at 97029578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066078]
[ENSMUST00000107613]
[ENSMUST00000107614]
[ENSMUST00000107615]
[ENSMUST00000118375]
|
| AlphaFold |
A2A9T0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000066078
AA Change: A526V
|
| SMART Domains |
Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: A526V
| 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 |
unknown
Transcript: ENSMUST00000107614
AA Change: A526V
|
| SMART Domains |
Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: A526V
| 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 |
unknown
Transcript: ENSMUST00000107615
AA Change: A525V
|
| SMART Domains |
Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: A525V
| 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 |
unknown
Transcript: ENSMUST00000118375
AA Change: A525V
|
| SMART Domains |
Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: A525V
| 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 |
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
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 |
|
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 |
|
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'- ATCTCAATTACCCAGGCTGAG -3'
(R):5'- TTTGTCTTGCCCAGGCCAAAG -3'
Sequencing Primer
(F):5'- CTGAGGGAAGCAGTACACTACTC -3'
(R):5'- TGTCTACGCCAAGCCGC -3'
|
| Posted On |
2019-01-30 |
Incidental Mutation