Incidental Mutation 'IGL01822:Nfkbib'
| ID |
154571 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfkbib
|
| Ensembl Gene |
ENSMUSG00000030595 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta |
| Synonyms |
IkB, IKappaBbeta |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL01822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28457676-28466069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28461134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 171
(D171G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032815]
[ENSMUST00000085851]
[ENSMUST00000137121]
[ENSMUST00000178767]
|
| AlphaFold |
Q60778 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032815
AA Change: D171G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: D171G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
ANK
|
57 |
86 |
4.13e-2 |
SMART |
|
ANK
|
93 |
122 |
1.6e1 |
SMART |
|
ANK
|
126 |
155 |
5.98e1 |
SMART |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
ANK
|
206 |
235 |
5.12e-7 |
SMART |
|
ANK
|
240 |
269 |
1.76e-5 |
SMART |
|
ANK
|
273 |
303 |
1.37e2 |
SMART |
|
low complexity region
|
305 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085851
AA Change: D171G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: D171G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
ANK
|
57 |
86 |
4.13e-2 |
SMART |
|
ANK
|
93 |
122 |
1.6e1 |
SMART |
|
ANK
|
126 |
155 |
5.98e1 |
SMART |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
ANK
|
206 |
235 |
5.12e-7 |
SMART |
|
ANK
|
240 |
269 |
1.76e-5 |
SMART |
|
ANK
|
273 |
303 |
1.37e2 |
SMART |
|
low complexity region
|
305 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137121
|
| SMART Domains |
Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
ANK
|
57 |
86 |
4.13e-2 |
SMART |
|
ANK
|
93 |
122 |
1.6e1 |
SMART |
|
ANK
|
126 |
151 |
2.15e3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178767
|
| SMART Domains |
Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
117 |
N/A |
INTRINSIC |
|
coiled coil region
|
129 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
215 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an inhibitor of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kappaB). The encoded protein prevents NF-kappaB-mediated transcription activation by sequestering it in the cytosol. In response to signals that induce NF-kappaB, such as cytokines and growth factors, the encoded protein undergoes phosphorylation, triggering its rapid ubiquitination and proteasomal degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit decreased susceptibility to endotoxin shock and induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cald1 |
A |
T |
6: 34,730,507 (GRCm39) |
T269S |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,362,700 (GRCm39) |
I351N |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,399,236 (GRCm39) |
I296N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,972,819 (GRCm39) |
F2038S |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,789,626 (GRCm39) |
L303P |
probably damaging |
Het |
| Fabp12 |
G |
A |
3: 10,311,082 (GRCm39) |
R127* |
probably null |
Het |
| Fgf12 |
A |
T |
16: 28,008,351 (GRCm39) |
S150T |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,270,741 (GRCm39) |
M32T |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,787,311 (GRCm39) |
T13I |
probably benign |
Het |
| Mmgt2 |
T |
C |
11: 62,555,832 (GRCm39) |
V60A |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,148,758 (GRCm39) |
S2596R |
possibly damaging |
Het |
| Oas1a |
T |
C |
5: 121,037,277 (GRCm39) |
E250G |
probably benign |
Het |
| Or2n1 |
C |
A |
17: 38,486,339 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,136 (GRCm39) |
I269N |
probably benign |
Het |
| Rnf182 |
T |
C |
13: 43,821,508 (GRCm39) |
C20R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,325,608 (GRCm39) |
K970E |
probably damaging |
Het |
| Slc30a2 |
T |
A |
4: 134,075,948 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,100 (GRCm39) |
C10S |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,130 (GRCm39) |
H850L |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,307,991 (GRCm39) |
Y749C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,433 (GRCm39) |
C336S |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,843,205 (GRCm39) |
R287Q |
probably damaging |
Het |
|
| Other mutations in Nfkbib |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02006:Nfkbib
|
APN |
7 |
28,465,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02327:Nfkbib
|
APN |
7 |
28,458,568 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02342:Nfkbib
|
APN |
7 |
28,461,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02610:Nfkbib
|
APN |
7 |
28,459,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0574:Nfkbib
|
UTSW |
7 |
28,461,213 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1470:Nfkbib
|
UTSW |
7 |
28,461,447 (GRCm39) |
splice site |
probably null |
|
|
R1730:Nfkbib
|
UTSW |
7 |
28,461,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Nfkbib
|
UTSW |
7 |
28,461,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Nfkbib
|
UTSW |
7 |
28,461,173 (GRCm39) |
nonsense |
probably null |
|
|
R7291:Nfkbib
|
UTSW |
7 |
28,458,628 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7297:Nfkbib
|
UTSW |
7 |
28,465,768 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7890:Nfkbib
|
UTSW |
7 |
28,461,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Nfkbib
|
UTSW |
7 |
28,465,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9436:Nfkbib
|
UTSW |
7 |
28,465,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Nfkbib
|
UTSW |
7 |
28,459,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Nfkbib
|
UTSW |
7 |
28,461,304 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation