Incidental Mutation 'R2179:Ikbkb'
ID |
237054 |
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 |
040181-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2179 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to T
at 23171769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033939]
[ENSMUST00000033939]
[ENSMUST00000063401]
[ENSMUST00000063401]
[ENSMUST00000063401]
[ENSMUST00000063401]
[ENSMUST00000125314]
[ENSMUST00000125314]
[ENSMUST00000135326]
[ENSMUST00000135326]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 |
probably null
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 |
probably null
Transcript: ENSMUST00000063401
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537
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 null
Transcript: ENSMUST00000063401
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537
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 null
Transcript: ENSMUST00000063401
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537
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 null
Transcript: ENSMUST00000063401
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537
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: 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: ENSMUST00000131767
|
SMART Domains |
Protein: ENSMUSP00000120916 Gene: ENSMUSG00000031537
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
7 |
100 |
5.5e-16 |
PFAM |
Pfam:Pkinase_Tyr
|
11 |
100 |
1.4e-13 |
PFAM |
|
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 |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150259
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,271,018 (GRCm39) |
D849G |
possibly damaging |
Het |
Amz2 |
A |
G |
11: 109,320,658 (GRCm39) |
H155R |
probably damaging |
Het |
Cfhr4 |
G |
T |
1: 139,659,279 (GRCm39) |
P679Q |
probably damaging |
Het |
Chuk |
C |
A |
19: 44,092,160 (GRCm39) |
C46F |
possibly damaging |
Het |
Cp |
A |
T |
3: 20,042,151 (GRCm39) |
D973V |
probably damaging |
Het |
Cpm |
T |
A |
10: 117,519,266 (GRCm39) |
D391E |
probably benign |
Het |
Creb3 |
T |
C |
4: 43,566,306 (GRCm39) |
S271P |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,323,053 (GRCm39) |
H2838L |
possibly damaging |
Het |
Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
Dnaaf2 |
C |
A |
12: 69,245,071 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
T |
A |
10: 24,681,793 (GRCm39) |
Q304H |
probably benign |
Het |
Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
Fndc8 |
A |
C |
11: 82,789,580 (GRCm39) |
K246T |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,884 (GRCm39) |
|
probably null |
Het |
Gucy2e |
A |
T |
11: 69,119,404 (GRCm39) |
|
probably null |
Het |
Igf1r |
A |
G |
7: 67,653,698 (GRCm39) |
T79A |
probably damaging |
Het |
Il16 |
A |
T |
7: 83,337,287 (GRCm39) |
|
probably null |
Het |
Irs1 |
T |
A |
1: 82,267,940 (GRCm39) |
H92L |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,277,464 (GRCm39) |
M315T |
probably benign |
Het |
Lrba |
T |
G |
3: 86,261,588 (GRCm39) |
L1514R |
probably damaging |
Het |
Mcpt2 |
A |
G |
14: 56,279,573 (GRCm39) |
|
probably benign |
Het |
Metap1d |
A |
G |
2: 71,283,715 (GRCm39) |
I5V |
probably benign |
Het |
Mga |
T |
A |
2: 119,790,923 (GRCm39) |
S2479T |
probably damaging |
Het |
Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,950,928 (GRCm39) |
|
probably null |
Het |
Mtfr1 |
C |
T |
3: 19,254,308 (GRCm39) |
R15* |
probably null |
Het |
Npm2 |
A |
G |
14: 70,885,749 (GRCm39) |
V152A |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
Ogdhl |
A |
G |
14: 32,057,302 (GRCm39) |
N303D |
probably damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,220 (GRCm39) |
Y101C |
probably benign |
Het |
Or10q1b |
T |
C |
19: 13,682,758 (GRCm39) |
V189A |
probably damaging |
Het |
Or4d11 |
T |
C |
19: 12,013,452 (GRCm39) |
Y218C |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,238 (GRCm39) |
V204A |
probably benign |
Het |
Pah |
T |
C |
10: 87,403,197 (GRCm39) |
F191L |
probably damaging |
Het |
Paics |
A |
T |
5: 77,109,291 (GRCm39) |
I209F |
probably damaging |
Het |
Pcare |
T |
C |
17: 72,059,521 (GRCm39) |
D52G |
probably damaging |
Het |
Pld6 |
A |
G |
11: 59,678,184 (GRCm39) |
L93P |
probably damaging |
Het |
Plod3 |
T |
C |
5: 137,019,862 (GRCm39) |
F431L |
possibly damaging |
Het |
Ppm1b |
T |
A |
17: 85,301,862 (GRCm39) |
D247E |
probably damaging |
Het |
Prx |
A |
G |
7: 27,217,410 (GRCm39) |
D637G |
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,720,679 (GRCm39) |
Y2656* |
probably null |
Het |
Setd2 |
T |
A |
9: 110,423,756 (GRCm39) |
Y492* |
probably null |
Het |
Shmt1 |
A |
G |
11: 60,697,825 (GRCm39) |
W9R |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,222,151 (GRCm39) |
V107A |
probably benign |
Het |
Sptlc1 |
A |
T |
13: 53,505,675 (GRCm39) |
Y248N |
probably damaging |
Het |
Stam2 |
T |
C |
2: 52,584,936 (GRCm39) |
T453A |
probably benign |
Het |
Tango2 |
G |
T |
16: 18,128,762 (GRCm39) |
N77K |
probably damaging |
Het |
Tas2r121 |
A |
T |
6: 132,677,831 (GRCm39) |
I47N |
probably damaging |
Het |
Terb1 |
A |
T |
8: 105,179,347 (GRCm39) |
C614S |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,199,369 (GRCm39) |
N525S |
probably benign |
Het |
Ttc6 |
A |
G |
12: 57,719,904 (GRCm39) |
D825G |
possibly damaging |
Het |
U90926 |
A |
T |
5: 92,357,838 (GRCm39) |
H104Q |
probably benign |
Het |
Zfand4 |
G |
A |
6: 116,291,742 (GRCm39) |
A559T |
possibly damaging |
Het |
Zfp462 |
T |
C |
4: 55,009,524 (GRCm39) |
S497P |
possibly 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 |
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 |
R9588:Ikbkb
|
UTSW |
8 |
23,151,410 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGCACAAGACATTCACAAG -3'
(R):5'- GTGCCCCAAATCTACTATGCTG -3'
Sequencing Primer
(F):5'- TTCTAAATATCCATGGAGCCGGC -3'
(R):5'- CCAAATCTACTATGCTGAGGGTACTC -3'
|
Posted On |
2014-10-02 |