Incidental Mutation 'IGL01787:Nfkbie'
| ID |
155099 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfkbie
|
| Ensembl Gene |
ENSMUSG00000023947 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45866629-45874095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45867189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 108
(L108P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024742]
|
| AlphaFold |
O54910 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024742
AA Change: L108P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: L108P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
ANK
|
122 |
152 |
1.14e2 |
SMART |
|
ANK
|
157 |
187 |
2.15e0 |
SMART |
|
ANK
|
190 |
219 |
6.81e-3 |
SMART |
|
ANK
|
233 |
262 |
5.09e-2 |
SMART |
|
ANK
|
267 |
296 |
1.12e-3 |
SMART |
|
ANK
|
300 |
329 |
1e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene display an essentially normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,210,052 (GRCm39) |
|
probably null |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,506,251 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,732 (GRCm39) |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,553,486 (GRCm39) |
L216P |
probably damaging |
Het |
| Zfp948 |
C |
T |
17: 21,807,333 (GRCm39) |
A175V |
probably benign |
Het |
|
| Other mutations in Nfkbie |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Nfkbie
|
APN |
17 |
45,871,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01331:Nfkbie
|
APN |
17 |
45,869,495 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02162:Nfkbie
|
APN |
17 |
45,867,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2092:Nfkbie
|
UTSW |
17 |
45,869,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4289:Nfkbie
|
UTSW |
17 |
45,869,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Nfkbie
|
UTSW |
17 |
45,867,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4609:Nfkbie
|
UTSW |
17 |
45,869,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Nfkbie
|
UTSW |
17 |
45,867,232 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5420:Nfkbie
|
UTSW |
17 |
45,871,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7226:Nfkbie
|
UTSW |
17 |
45,870,153 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7304:Nfkbie
|
UTSW |
17 |
45,871,067 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7472:Nfkbie
|
UTSW |
17 |
45,870,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8326:Nfkbie
|
UTSW |
17 |
45,870,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Nfkbie
|
UTSW |
17 |
45,871,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9038:Nfkbie
|
UTSW |
17 |
45,870,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9045:Nfkbie
|
UTSW |
17 |
45,872,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Nfkbie
|
UTSW |
17 |
45,871,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nfkbie
|
UTSW |
17 |
45,871,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation