Incidental Mutation 'IGL01517:Nfkbia'
| ID |
90424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfkbia
|
| Ensembl Gene |
ENSMUSG00000021025 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha |
| Synonyms |
Nfkbi, I(Kappa)B(alpha), I-kappaBalpha, IkappaBalpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
55536195-55539432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55537430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 220
(A220T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021413]
|
| AlphaFold |
Q9Z1E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021413
AA Change: A220T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: A220T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
73 |
103 |
1.39e3 |
SMART |
|
ANK
|
110 |
139 |
5.93e-3 |
SMART |
|
ANK
|
143 |
172 |
3.04e0 |
SMART |
|
ANK
|
182 |
211 |
4.39e-6 |
SMART |
|
ANK
|
216 |
245 |
9.41e-6 |
SMART |
|
low complexity region
|
282 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219869
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
| Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
| Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
| Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
| Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
| Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
| Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
| Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
| Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
| Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
| Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
Het |
|
| Other mutations in Nfkbia |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Nfkbia
|
APN |
12 |
55,537,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02636:Nfkbia
|
APN |
12 |
55,537,958 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Fulfilling
|
UTSW |
12 |
55,537,455 (GRCm39) |
splice site |
probably benign |
|
|
Promising
|
UTSW |
12 |
55,539,083 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0836:Nfkbia
|
UTSW |
12 |
55,537,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Nfkbia
|
UTSW |
12 |
55,537,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Nfkbia
|
UTSW |
12 |
55,537,455 (GRCm39) |
splice site |
probably benign |
|
|
R5821:Nfkbia
|
UTSW |
12 |
55,538,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7568:Nfkbia
|
UTSW |
12 |
55,538,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Nfkbia
|
UTSW |
12 |
55,537,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Nfkbia
|
UTSW |
12 |
55,539,083 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8843:Nfkbia
|
UTSW |
12 |
55,539,196 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8921:Nfkbia
|
UTSW |
12 |
55,537,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Nfkbia
|
UTSW |
12 |
55,537,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Nfkbia
|
UTSW |
12 |
55,537,372 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2013-12-09 |
Incidental Mutation