Incidental Mutation 'IGL02569:Ikbkb'
| ID |
298960 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23183899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 84
(Q84K)
|
| 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 damaging
Transcript: ENSMUST00000033939
AA Change: Q84K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: Q84K
| 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 damaging
Transcript: ENSMUST00000063401
AA Change: Q84K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: Q84K
| 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: Q84K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: Q84K
| 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: ENSMUST00000126439
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131767
AA Change: Q35K
|
| SMART Domains |
Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537
AA Change: Q35K
| 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
AA Change: Q84K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: Q84K
| 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: ENSMUST00000150259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146212
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,034,061 (GRCm39) |
D2223G |
probably damaging |
Het |
| Brd1 |
A |
G |
15: 88,598,132 (GRCm39) |
L538P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,245 (GRCm39) |
V424A |
probably damaging |
Het |
| Capg |
A |
C |
6: 72,538,032 (GRCm39) |
E306A |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,428 (GRCm39) |
Y115C |
probably benign |
Het |
| Crat |
G |
A |
2: 30,294,542 (GRCm39) |
R509W |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,477,985 (GRCm39) |
N1594S |
possibly damaging |
Het |
| Fabp2 |
T |
C |
3: 122,689,113 (GRCm39) |
F18L |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,985 (GRCm39) |
K263R |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,518,323 (GRCm39) |
C323Y |
probably benign |
Het |
| Fas |
A |
G |
19: 34,297,962 (GRCm39) |
E210G |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,569 (GRCm39) |
F241S |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,932 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,573,244 (GRCm39) |
M2135K |
probably benign |
Het |
| Kcnk9 |
T |
C |
15: 72,384,426 (GRCm39) |
T251A |
probably benign |
Het |
| Mphosph9 |
C |
A |
5: 124,435,634 (GRCm39) |
E600* |
probably null |
Het |
| Or2ag1 |
T |
A |
7: 106,313,793 (GRCm39) |
I32L |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,849 (GRCm39) |
T30S |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,698,602 (GRCm39) |
K341N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Scart2 |
A |
C |
7: 139,878,275 (GRCm39) |
I885L |
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,030,285 (GRCm39) |
Y132C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St6galnac1 |
T |
C |
11: 116,658,528 (GRCm39) |
D312G |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,703,639 (GRCm39) |
|
probably null |
Het |
| Tex9 |
C |
T |
9: 72,385,645 (GRCm39) |
V8I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,301,382 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,129 (GRCm39) |
W182* |
probably null |
Het |
| Vmn2r61 |
G |
A |
7: 41,926,070 (GRCm39) |
G525E |
probably damaging |
Het |
| Zfp111 |
T |
C |
7: 23,906,494 (GRCm39) |
T2A |
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 |
|
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 |
|
R9588:Ikbkb
|
UTSW |
8 |
23,151,410 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation