Incidental Mutation 'R9588:Ikbkb'
| ID |
722889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbkb
|
| Ensembl Gene |
ENSMUSG00000031537 |
| Gene Name |
inhibitor of kappaB kinase beta |
| Synonyms |
IKK[b], IKK-beta, IKK-2, IKK2, IKKbeta |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23151410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 738
(A738V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033939]
[ENSMUST00000063401]
[ENSMUST00000125314]
[ENSMUST00000132279]
[ENSMUST00000135326]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033939
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
15 |
247 |
1.2e-38 |
PFAM |
|
Pfam:Pkinase
|
15 |
296 |
1.2e-54 |
PFAM |
|
Pfam:Kdo
|
31 |
176 |
1.3e-7 |
PFAM |
|
IKKbetaNEMObind
|
705 |
742 |
4.71e-16 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000063401
AA Change: A738V
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: A738V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
15 |
247 |
7.3e-39 |
PFAM |
|
Pfam:Pkinase
|
15 |
296 |
6.9e-56 |
PFAM |
|
Pfam:Kdo
|
44 |
177 |
3e-8 |
PFAM |
|
IKKbetaNEMObind
|
705 |
737 |
1.83e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125314
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
15 |
248 |
2.8e-38 |
PFAM |
|
Pfam:Pkinase
|
15 |
296 |
2.5e-55 |
PFAM |
|
Pfam:Kdo
|
43 |
177 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135326
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
15 |
248 |
2.8e-38 |
PFAM |
|
Pfam:Pkinase
|
15 |
296 |
2.5e-55 |
PFAM |
|
Pfam:Kdo
|
43 |
177 |
1.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit liver degeneration and die in midgestation. Conditional mutations that lack gene expression in lymphoid cells or epidermal keratinocytes exhibit B and T cell deficits and skin inflammation, respectively. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,468,328 (GRCm39) |
F153L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,342 (GRCm39) |
K491E |
possibly damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,950,126 (GRCm39) |
N424S |
probably benign |
Het |
| Ccdc61 |
A |
G |
7: 18,644,266 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,733,770 (GRCm39) |
S586P |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
| Cops5 |
C |
A |
1: 10,108,222 (GRCm39) |
R5L |
unknown |
Het |
| Cpne2 |
C |
A |
8: 95,286,781 (GRCm39) |
P369Q |
possibly damaging |
Het |
| Cyp3a25 |
G |
T |
5: 145,921,699 (GRCm39) |
Q412K |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,622,785 (GRCm39) |
V612A |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,783 (GRCm39) |
D426G |
probably benign |
Het |
| Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
| Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
T |
13: 31,992,587 (GRCm39) |
H466L |
unknown |
Het |
| Hsf2bp |
A |
G |
17: 32,241,810 (GRCm39) |
L78P |
probably damaging |
Het |
| Itgb8 |
G |
T |
12: 119,140,754 (GRCm39) |
N374K |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,804 (GRCm39) |
Q998L |
possibly damaging |
Het |
| Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
| Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,467,225 (GRCm39) |
T267I |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,978,130 (GRCm39) |
D1299E |
probably benign |
Het |
| Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or14c39 |
T |
A |
7: 86,343,948 (GRCm39) |
C95S |
probably damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,564 (GRCm39) |
D339G |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,100,870 (GRCm39) |
D160E |
probably benign |
Het |
| Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,121,025 (GRCm39) |
N1078S |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,471 (GRCm39) |
K255E |
possibly damaging |
Het |
| Surf4 |
C |
A |
2: 26,823,622 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 130,108,223 (GRCm39) |
C1313G |
probably damaging |
Het |
| Trmt44 |
A |
T |
5: 35,727,256 (GRCm39) |
C320S |
probably damaging |
Het |
| Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,079 (GRCm39) |
I348N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,347 (GRCm39) |
M31K |
probably null |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,205 (GRCm39) |
T699A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
probably damaging |
Het |
|
| Other mutations in Ikbkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Ikbkb
|
APN |
8 |
23,196,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00899:Ikbkb
|
APN |
8 |
23,150,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02271:Ikbkb
|
APN |
8 |
23,155,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02569:Ikbkb
|
APN |
8 |
23,183,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02610:Ikbkb
|
APN |
8 |
23,165,088 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03085:Ikbkb
|
APN |
8 |
23,172,802 (GRCm39) |
missense |
probably benign |
0.03 |
|
Baby
|
UTSW |
8 |
23,165,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Impaired
|
UTSW |
8 |
23,156,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kiki
|
UTSW |
8 |
23,161,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0110:Ikbkb
|
UTSW |
8 |
23,161,651 (GRCm39) |
nonsense |
probably null |
|
|
R0366:Ikbkb
|
UTSW |
8 |
23,185,276 (GRCm39) |
splice site |
probably benign |
|
|
R0469:Ikbkb
|
UTSW |
8 |
23,161,651 (GRCm39) |
nonsense |
probably null |
|
|
R0510:Ikbkb
|
UTSW |
8 |
23,161,651 (GRCm39) |
nonsense |
probably null |
|
|
R1386:Ikbkb
|
UTSW |
8 |
23,155,633 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1436:Ikbkb
|
UTSW |
8 |
23,163,419 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1645:Ikbkb
|
UTSW |
8 |
23,181,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1695:Ikbkb
|
UTSW |
8 |
23,163,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Ikbkb
|
UTSW |
8 |
23,157,233 (GRCm39) |
splice site |
probably benign |
|
|
R2120:Ikbkb
|
UTSW |
8 |
23,157,233 (GRCm39) |
splice site |
probably benign |
|
|
R2121:Ikbkb
|
UTSW |
8 |
23,157,233 (GRCm39) |
splice site |
probably benign |
|
|
R2124:Ikbkb
|
UTSW |
8 |
23,157,233 (GRCm39) |
splice site |
probably benign |
|
|
R2124:Ikbkb
|
UTSW |
8 |
23,156,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Ikbkb
|
UTSW |
8 |
23,172,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Ikbkb
|
UTSW |
8 |
23,171,769 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2897:Ikbkb
|
UTSW |
8 |
23,159,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3861:Ikbkb
|
UTSW |
8 |
23,168,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4019:Ikbkb
|
UTSW |
8 |
23,161,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4723:Ikbkb
|
UTSW |
8 |
23,159,623 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4962:Ikbkb
|
UTSW |
8 |
23,171,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Ikbkb
|
UTSW |
8 |
23,168,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Ikbkb
|
UTSW |
8 |
23,165,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Ikbkb
|
UTSW |
8 |
23,155,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7054:Ikbkb
|
UTSW |
8 |
23,161,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7284:Ikbkb
|
UTSW |
8 |
23,158,976 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7383:Ikbkb
|
UTSW |
8 |
23,159,066 (GRCm39) |
missense |
probably benign |
|
|
R7633:Ikbkb
|
UTSW |
8 |
23,161,757 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7768:Ikbkb
|
UTSW |
8 |
23,185,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7819:Ikbkb
|
UTSW |
8 |
23,161,742 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8332:Ikbkb
|
UTSW |
8 |
23,155,641 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8369:Ikbkb
|
UTSW |
8 |
23,181,097 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8421:Ikbkb
|
UTSW |
8 |
23,168,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8934:Ikbkb
|
UTSW |
8 |
23,150,407 (GRCm39) |
makesense |
probably null |
|
|
R9249:Ikbkb
|
UTSW |
8 |
23,171,735 (GRCm39) |
nonsense |
probably null |
|
|
R9352:Ikbkb
|
UTSW |
8 |
23,150,444 (GRCm39) |
missense |
probably benign |
|
|
R9367:Ikbkb
|
UTSW |
8 |
23,171,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Ikbkb
|
UTSW |
8 |
23,172,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9581:Ikbkb
|
UTSW |
8 |
23,155,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTGCTGTCACCTCCTTAG -3'
(R):5'- TGAAGACATGAGTGATTCCTGTG -3'
Sequencing Primer
(F):5'- GGATTACGTGTCATAAGGGATTAAG -3'
(R):5'- AGTGATTCCTGTGTTGTTTTAGAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation