Incidental Mutation 'R8369:Ikbkb'
| ID |
646300 |
| 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 |
067739-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23181097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 122
(V122A)
|
| 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 benign
Transcript: ENSMUST00000033939
AA Change: V122A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: V122A
| 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: V122A
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: V122A
| 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: V122A
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: V122A
| 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 |
possibly damaging
Transcript: ENSMUST00000131767
AA Change: V73A
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537
AA Change: V73A
| 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: V122A
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: V122A
| 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: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
A |
16: 90,852,657 (GRCm39) |
H160Y |
probably benign |
Het |
| Abcc4 |
T |
G |
14: 118,864,869 (GRCm39) |
I386L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,761,669 (GRCm39) |
R1686* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,465,477 (GRCm39) |
I2122N |
probably benign |
Het |
| Arhgap44 |
A |
T |
11: 64,950,680 (GRCm39) |
D119E |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,747 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,065,752 (GRCm39) |
L9M |
|
Het |
| Brinp1 |
A |
T |
4: 68,716,936 (GRCm39) |
L304Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,044,465 (GRCm39) |
V349A |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,405,597 (GRCm39) |
Y347H |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,422,126 (GRCm39) |
I534S |
probably benign |
Het |
| Cyb5r4 |
A |
T |
9: 86,922,486 (GRCm39) |
D165V |
probably benign |
Het |
| Cygb |
G |
A |
11: 116,540,109 (GRCm39) |
T180I |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,916,939 (GRCm39) |
S285R |
probably benign |
Het |
| Daxx |
G |
T |
17: 34,131,590 (GRCm39) |
C433F |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,185,043 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,938,766 (GRCm39) |
I115F |
probably damaging |
Het |
| Dnajc5b |
A |
G |
3: 19,664,796 (GRCm39) |
D198G |
probably damaging |
Het |
| Ercc1 |
T |
A |
7: 19,088,377 (GRCm39) |
C243* |
probably null |
Het |
| Ermard |
T |
C |
17: 15,273,560 (GRCm39) |
F382L |
probably damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,861,680 (GRCm39) |
G1879V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,150,905 (GRCm39) |
H516Q |
unknown |
Het |
| Gcsam |
T |
A |
16: 45,436,369 (GRCm39) |
W51R |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,798,111 (GRCm39) |
S1065T |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Krt24 |
A |
T |
11: 99,173,534 (GRCm39) |
C262* |
probably null |
Het |
| Lrat |
T |
C |
3: 82,810,865 (GRCm39) |
E52G |
probably damaging |
Het |
| Misp3 |
T |
A |
8: 84,737,627 (GRCm39) |
H94L |
unknown |
Het |
| N4bp3 |
A |
G |
11: 51,535,253 (GRCm39) |
L312P |
probably damaging |
Het |
| Naxe |
T |
C |
3: 87,963,994 (GRCm39) |
T246A |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,519,847 (GRCm39) |
M1L |
probably benign |
Het |
| Slc7a6 |
G |
A |
8: 106,919,796 (GRCm39) |
A270T |
probably damaging |
Het |
| Sord |
T |
A |
2: 122,076,976 (GRCm39) |
I27K |
probably benign |
Het |
| Srek1ip1 |
A |
G |
13: 104,970,798 (GRCm39) |
E83G |
probably benign |
Het |
| Srgap3 |
A |
C |
6: 112,699,779 (GRCm39) |
N1090K |
probably benign |
Het |
| Sult2a6 |
A |
C |
7: 13,987,327 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,223,888 (GRCm39) |
I191N |
probably damaging |
Het |
| Thoc3 |
A |
G |
13: 54,615,708 (GRCm39) |
S119P |
probably damaging |
Het |
| Tirap |
A |
G |
9: 35,100,052 (GRCm39) |
S211P |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,876 (GRCm39) |
T632A |
probably benign |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,486 (GRCm39) |
I126F |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,710,480 (GRCm39) |
T114A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,342 (GRCm39) |
L77P |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,198 (GRCm39) |
T716I |
probably damaging |
Het |
| Yod1 |
A |
G |
1: 130,645,360 (GRCm39) |
K47R |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,304,201 (GRCm39) |
M1261K |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,583,448 (GRCm39) |
I1105T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,441,353 (GRCm39) |
K436N |
probably damaging |
Het |
| Zfp979 |
T |
C |
4: 147,697,548 (GRCm39) |
H387R |
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 |
|
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 |
|
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'- CCTACTGTGACTTAGAGAGGAAG -3'
(R):5'- TGCCAGTACAACTGCTCCAG -3'
Sequencing Primer
(F):5'- CTTAGAGAGGAAGGAACTCTATCTG -3'
(R):5'- TCCAGTTGCCTCCAGCCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation