Incidental Mutation 'R9524:Ikbkb'
| ID |
719088 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 23172740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033939]
[ENSMUST00000063401]
[ENSMUST00000125314]
[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 benign
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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,180,594 (GRCm39) |
|
probably null |
Het |
| Adra2c |
G |
A |
5: 35,438,143 (GRCm39) |
R305Q |
probably benign |
Het |
| Ahnak |
A |
G |
19: 9,014,617 (GRCm39) |
D147G |
|
Het |
| Arhgap30 |
T |
A |
1: 171,225,114 (GRCm39) |
S57T |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,408,607 (GRCm39) |
I2498T |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,744 (GRCm39) |
D101E |
probably benign |
Het |
| Cntfr |
A |
G |
4: 41,661,995 (GRCm39) |
L249P |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,071,876 (GRCm39) |
I940T |
possibly damaging |
Het |
| Dnah12 |
T |
G |
14: 26,572,494 (GRCm39) |
C2862G |
probably null |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,976,309 (GRCm39) |
F1247L |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,264,611 (GRCm39) |
Q737R |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,959,897 (GRCm39) |
V673A |
possibly damaging |
Het |
| Eif2a |
A |
T |
3: 58,448,467 (GRCm39) |
K100I |
possibly damaging |
Het |
| Flnc |
C |
A |
6: 29,461,109 (GRCm39) |
N2694K |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,768 (GRCm39) |
D111E |
possibly damaging |
Het |
| Gcnt3 |
G |
A |
9: 69,941,569 (GRCm39) |
A333V |
probably damaging |
Het |
| Gpr151 |
T |
C |
18: 42,712,710 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,727,416 (GRCm39) |
T177A |
probably benign |
Het |
| Hnmt |
G |
A |
2: 23,893,880 (GRCm39) |
L205F |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,337 (GRCm39) |
S391G |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,140,286 (GRCm39) |
T505M |
probably damaging |
Het |
| Kif3b |
A |
T |
2: 153,159,460 (GRCm39) |
K420N |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,730,294 (GRCm39) |
V3341A |
unknown |
Het |
| Lce1i |
T |
C |
3: 92,685,081 (GRCm39) |
K32E |
unknown |
Het |
| Lmf1 |
A |
G |
17: 25,881,514 (GRCm39) |
Y521C |
probably damaging |
Het |
| Mki67 |
C |
T |
7: 135,305,913 (GRCm39) |
C655Y |
probably damaging |
Het |
| Morc3 |
T |
A |
16: 93,667,401 (GRCm39) |
V593E |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,497,314 (GRCm39) |
F6613L |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,563,101 (GRCm39) |
T688I |
probably benign |
Het |
| Or2n1d |
T |
A |
17: 38,646,540 (GRCm39) |
L164* |
probably null |
Het |
| Otop2 |
T |
A |
11: 115,214,503 (GRCm39) |
C87S |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,810,484 (GRCm39) |
L97* |
probably null |
Het |
| Pik3c2g |
T |
A |
6: 139,606,768 (GRCm39) |
W272R |
probably damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,101,398 (GRCm39) |
G20R |
unknown |
Het |
| Ppp1r35 |
G |
A |
5: 137,777,304 (GRCm39) |
A17T |
unknown |
Het |
| Ppp2r5e |
A |
T |
12: 75,509,167 (GRCm39) |
Y371N |
possibly damaging |
Het |
| Rexo1 |
T |
C |
10: 80,386,872 (GRCm39) |
E62G |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,973 (GRCm39) |
E1622G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,723,600 (GRCm39) |
E4181G |
probably damaging |
Het |
| Saxo1 |
C |
A |
4: 86,397,132 (GRCm39) |
M135I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,964,183 (GRCm39) |
P597Q |
possibly damaging |
Het |
| Shld2 |
G |
A |
14: 33,971,245 (GRCm39) |
Q547* |
probably null |
Het |
| Slc44a1 |
G |
A |
4: 53,542,389 (GRCm39) |
V308I |
probably benign |
Het |
| Slc6a21 |
A |
G |
7: 44,937,785 (GRCm39) |
H367R |
probably benign |
Het |
| Snx11 |
G |
T |
11: 96,660,023 (GRCm39) |
T222K |
probably benign |
Het |
| Snx4 |
C |
T |
16: 33,112,228 (GRCm39) |
Q388* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,622 (GRCm39) |
L831P |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Unc5c |
T |
C |
3: 141,494,683 (GRCm39) |
V406A |
possibly damaging |
Het |
| Unc5d |
A |
C |
8: 29,365,639 (GRCm39) |
N115K |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,026 (GRCm39) |
T819N |
probably damaging |
Het |
| Usp42 |
T |
C |
5: 143,702,704 (GRCm39) |
D639G |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,564 (GRCm39) |
M193K |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,823 (GRCm39) |
Y247H |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,822,814 (GRCm39) |
D2989G |
|
Het |
| Vsig2 |
A |
G |
9: 37,455,335 (GRCm39) |
E295G |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,055,333 (GRCm39) |
N1579I |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,980,173 (GRCm39) |
D80G |
possibly damaging |
Het |
| Zfp663 |
A |
C |
2: 165,195,607 (GRCm39) |
L204R |
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 |
|
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'- GCCTCAATCTGCTTGCACTG -3'
(R):5'- TGTCTCTTGCAGGCTAGTCAATTC -3'
Sequencing Primer
(F):5'- GCTTGCACTGCTGTTTCAAGAAAAAC -3'
(R):5'- CTTGCAGGCTAGTCAATTCTGAGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation