Incidental Mutation 'R0574:Nfkbib'
| ID |
46570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfkbib
|
| Ensembl Gene |
ENSMUSG00000030595 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta |
| Synonyms |
IkB, IKappaBbeta |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28457676-28466069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28461213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 145
(V145I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032815]
[ENSMUST00000072965]
[ENSMUST00000085851]
[ENSMUST00000122915]
[ENSMUST00000137121]
[ENSMUST00000178767]
|
| AlphaFold |
Q60778 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032815
AA Change: V145I
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: V145I
| 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: ENSMUST00000072965
|
| SMART Domains |
Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
37 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
84 |
268 |
2.6e-60 |
PFAM |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085851
AA Change: V145I
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: V145I
| 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: ENSMUST00000122915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137121
AA Change: V145I
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595
AA Change: V145I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
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 |
|
IGL02610:Nfkbib
|
APN |
7 |
28,459,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGTAGCCTCCAGTCTTCATCACG -3'
(R):5'- TGATTCATCAGCATGAGCCCTTCC -3'
Sequencing Primer
(F):5'- AGTCTTCATCACGCGGCTC -3'
(R):5'- ATTGTCAGCGTGGCCCTAAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation