Incidental Mutation 'IGL02271:Ikbkb'
| ID |
287117 |
| 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 # |
IGL02271
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23155919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 583
(T583S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033939
(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
AA Change: T583S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: T583S
| 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: T583S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: T583S
| 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 |
noncoding transcript
Transcript: ENSMUST00000126496
|
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
C |
T |
1: 158,338,520 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,366,290 (GRCm39) |
V1068F |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,626 (GRCm39) |
N621K |
probably damaging |
Het |
| Cd44 |
C |
T |
2: 102,661,732 (GRCm39) |
E418K |
possibly damaging |
Het |
| Clip2 |
A |
T |
5: 134,531,425 (GRCm39) |
N758K |
probably benign |
Het |
| Cst11 |
A |
T |
2: 148,613,161 (GRCm39) |
Y55N |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,872 (GRCm39) |
L316* |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,843,057 (GRCm39) |
M352T |
probably damaging |
Het |
| Fancd2 |
G |
A |
6: 113,512,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,034,068 (GRCm39) |
E2573D |
probably benign |
Het |
| Fbxl13 |
T |
G |
5: 21,695,454 (GRCm39) |
D646A |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Grid2ip |
A |
G |
5: 143,374,664 (GRCm39) |
D928G |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,265,285 (GRCm39) |
L1231P |
probably damaging |
Het |
| Ifitm7 |
A |
G |
16: 13,801,541 (GRCm39) |
F73L |
probably damaging |
Het |
| Kdm6b |
G |
A |
11: 69,296,893 (GRCm39) |
A458V |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,180 (GRCm39) |
K143R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,764,309 (GRCm39) |
S42P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,857,028 (GRCm39) |
M360L |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,350,250 (GRCm39) |
N677S |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,557,155 (GRCm39) |
V1407I |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,168,113 (GRCm39) |
T426A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,937,663 (GRCm39) |
Y146C |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,122,625 (GRCm39) |
|
noncoding transcript |
Het |
| Notch4 |
A |
T |
17: 34,787,445 (GRCm39) |
N335I |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,215,134 (GRCm39) |
E232D |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,584 (GRCm39) |
I92K |
probably damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,784 (GRCm39) |
T267S |
probably benign |
Het |
| Pax3 |
A |
T |
1: 78,171,969 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,729,508 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,348,567 (GRCm39) |
D869G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,373,332 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pilrb2 |
T |
C |
5: 137,865,125 (GRCm39) |
D223G |
probably benign |
Het |
| Rag1 |
T |
A |
2: 101,473,733 (GRCm39) |
I470F |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,445,317 (GRCm39) |
S333P |
probably damaging |
Het |
| Rundc3b |
A |
G |
5: 8,542,530 (GRCm39) |
Y430H |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,793,472 (GRCm39) |
D1332G |
probably benign |
Het |
| Sgo1 |
G |
A |
17: 53,986,567 (GRCm39) |
A208V |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,794,778 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,706,451 (GRCm39) |
S597T |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,085 (GRCm39) |
|
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,847,448 (GRCm39) |
|
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,339,768 (GRCm39) |
D158G |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,871,224 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,912,335 (GRCm39) |
E1018V |
probably damaging |
Het |
| Vmn1r46 |
T |
A |
6: 89,953,886 (GRCm39) |
F245Y |
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 |
|
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 |
|
R9588:Ikbkb
|
UTSW |
8 |
23,151,410 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation