Incidental Mutation 'R1436:Ikbkb'
| ID |
160645 |
| 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 |
039491-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1436 (G1)
|
| Quality Score |
102 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23163419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 297
(N297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033939]
[ENSMUST00000063401]
[ENSMUST00000125314]
[ENSMUST00000135326]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033939
AA Change: N297I
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: N297I
| 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
AA Change: N297I
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: N297I
| 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
AA Change: N297I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: N297I
| 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: ENSMUST00000126496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135326
AA Change: N297I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: N297I
| 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: ENSMUST00000146212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150259
|
| Meta Mutation Damage Score |
0.1371 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| Validation Efficiency |
94% (65/69) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
| Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
| Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
| Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
| Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
| Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
| Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
| Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
| Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
| Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
| Mpeg1 |
C |
T |
19: 12,439,823 (GRCm39) |
S427F |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
| Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
| Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
| Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
| Rhot2 |
A |
C |
17: 26,060,374 (GRCm39) |
S277R |
probably benign |
Het |
| Satb1 |
T |
G |
17: 52,111,391 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
| Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,040,580 (GRCm39) |
Y561H |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
| Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
| Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
| Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
| Trip4 |
A |
T |
9: 65,788,233 (GRCm39) |
W71R |
probably damaging |
Het |
| Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
| Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,361,196 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R9588:Ikbkb
|
UTSW |
8 |
23,151,410 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTTGCCAAGACCCTTTGCTAC -3'
(R):5'- TGCTTCGGGATTTGCACACTGC -3'
Sequencing Primer
(F):5'- TTTTTAGCCCAAAGAGTCAGAGG -3'
(R):5'- TGCAGCTGATGCTTATGTGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation