Incidental Mutation 'IGL02610:Nfkbib'
| ID |
300434 |
| 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 # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28457676-28466069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28459274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 319
(D319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032815]
[ENSMUST00000085851]
[ENSMUST00000137121]
[ENSMUST00000178767]
|
| AlphaFold |
Q60778 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032815
AA Change: D319G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: D319G
| 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 damaging
Transcript: ENSMUST00000085851
AA Change: D319G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: D319G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
| Other mutations in Nfkbib |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01822:Nfkbib
|
APN |
7 |
28,461,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation