Incidental Mutation 'R2897:Ikbkb'
| ID |
260846 |
| 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 |
040485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23159693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 432
(Q432K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000033939
AA Change: Q432K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: Q432K
| 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 |
possibly damaging
Transcript: ENSMUST00000063401
AA Change: Q432K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: Q432K
| 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: P430Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: P430Q
| 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: P430Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: P430Q
| 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
|
| Meta Mutation Damage Score |
0.1299 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,640 (GRCm39) |
V1015A |
probably benign |
Het |
| 4930480E11Rik |
C |
T |
X: 77,413,868 (GRCm39) |
Q198* |
probably null |
Het |
| Acap3 |
G |
C |
4: 155,989,388 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
T |
C |
10: 61,040,689 (GRCm39) |
D879G |
probably damaging |
Het |
| Akap1 |
A |
T |
11: 88,735,605 (GRCm39) |
C352* |
probably null |
Het |
| Ankk1 |
T |
A |
9: 49,333,122 (GRCm39) |
T121S |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,860,438 (GRCm39) |
S2G |
probably damaging |
Het |
| Anks1 |
G |
T |
17: 28,204,337 (GRCm39) |
|
probably null |
Het |
| Apob |
G |
A |
12: 8,060,356 (GRCm39) |
G2946D |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,419,105 (GRCm39) |
C782W |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,074,257 (GRCm39) |
I332N |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,152 (GRCm39) |
I406V |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,199 (GRCm39) |
D327V |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,988,341 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
C |
4: 152,456,572 (GRCm39) |
F970L |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,579,752 (GRCm39) |
Y236H |
probably damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,929,680 (GRCm39) |
H93R |
unknown |
Het |
| Cxcr2 |
T |
C |
1: 74,198,130 (GRCm39) |
V208A |
probably benign |
Het |
| Cyp1b1 |
G |
A |
17: 80,021,160 (GRCm39) |
T194M |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,317,061 (GRCm39) |
V79E |
probably damaging |
Het |
| Dcx |
A |
G |
X: 142,706,428 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
G |
A |
1: 162,113,643 (GRCm39) |
|
probably benign |
Het |
| Erbin |
C |
T |
13: 104,022,705 (GRCm39) |
E45K |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,532,960 (GRCm39) |
L469P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm10271 |
A |
G |
10: 116,808,495 (GRCm39) |
L7S |
probably damaging |
Het |
| Gm5087 |
T |
C |
14: 13,158,805 (GRCm38) |
|
noncoding transcript |
Het |
| Hid1 |
A |
G |
11: 115,241,356 (GRCm39) |
S645P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,678,624 (GRCm39) |
C499Y |
probably damaging |
Het |
| Ifna1 |
C |
A |
4: 88,768,450 (GRCm39) |
Q43K |
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,405,675 (GRCm39) |
H148L |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,074,839 (GRCm39) |
R2338Q |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,224,667 (GRCm39) |
I1441N |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,541 (GRCm39) |
R757G |
probably benign |
Het |
| Lmx1a |
T |
A |
1: 167,658,109 (GRCm39) |
|
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,796,722 (GRCm39) |
S81T |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,063,111 (GRCm39) |
N65S |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,180,360 (GRCm39) |
D981G |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,183,853 (GRCm39) |
I296V |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,767,565 (GRCm39) |
R184G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,822,550 (GRCm39) |
|
noncoding transcript |
Het |
| Myo6 |
T |
A |
9: 80,176,893 (GRCm39) |
|
probably null |
Het |
| Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
| Ndrg4 |
A |
G |
8: 96,405,014 (GRCm39) |
|
probably null |
Het |
| Neu2 |
A |
G |
1: 87,522,782 (GRCm39) |
S72G |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,755,040 (GRCm39) |
M59L |
probably benign |
Het |
| Nuak2 |
A |
T |
1: 132,252,791 (GRCm39) |
H115L |
probably damaging |
Het |
| Oog1 |
T |
A |
12: 87,655,178 (GRCm39) |
I272K |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,869,699 (GRCm39) |
F61S |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,366,749 (GRCm39) |
Y316F |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,516 (GRCm39) |
Y489C |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,572,651 (GRCm39) |
I344T |
probably benign |
Het |
| Pip5kl1 |
C |
A |
2: 32,473,359 (GRCm39) |
A332D |
probably benign |
Het |
| Pja1 |
T |
C |
X: 98,510,754 (GRCm39) |
E385G |
probably benign |
Het |
| Psma6 |
A |
T |
12: 55,454,829 (GRCm39) |
I53L |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,761 (GRCm39) |
D206E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,534,776 (GRCm39) |
T32A |
unknown |
Het |
| Shroom2 |
G |
T |
X: 151,443,035 (GRCm39) |
T710K |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,572,424 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,671,984 (GRCm39) |
S895T |
probably null |
Het |
| Sycp3 |
G |
A |
10: 88,308,544 (GRCm39) |
E205K |
possibly damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,048,654 (GRCm39) |
I333N |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,658,831 (GRCm39) |
Y101* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,549,500 (GRCm39) |
T23399S |
probably damaging |
Het |
| Vipas39 |
A |
G |
12: 87,289,297 (GRCm39) |
V389A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,994,598 (GRCm39) |
|
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,413 (GRCm39) |
H370Q |
probably damaging |
Het |
| Zfp37 |
C |
T |
4: 62,110,014 (GRCm39) |
G350D |
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 |
|
|
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'- ACCAGAGCCCCTAAGAGTTG -3'
(R):5'- GCCATCCCTTCTGCTAATGGAG -3'
Sequencing Primer
(F):5'- AGAGCCCCTAAGAGTTGCTTCTG -3'
(R):5'- TGGAGCACCGAGTTGTTTAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation