Incidental Mutation 'IGL02636:Nfkbia'
| ID |
301526 |
| 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 # |
IGL02636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
55536195-55539432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55537958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 165
(Q165R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021413]
|
| AlphaFold |
Q9Z1E3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021413
AA Change: Q165R
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: Q165R
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
| Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
| Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
| Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
| Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
| Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
| Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
| Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
| Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
| Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01517:Nfkbia
|
APN |
12 |
55,537,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation