Incidental Mutation 'R9249:Ikbkb'
ID |
701433 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9249 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 23171735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 171
(K171*)
|
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 null
Transcript: ENSMUST00000033939
AA Change: K171*
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: K171*
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 null
Transcript: ENSMUST00000063401
AA Change: K171*
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: K171*
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 null
Transcript: ENSMUST00000125314
AA Change: K171*
|
SMART Domains |
Protein: ENSMUSP00000138156 Gene: ENSMUSG00000031537 AA Change: K171*
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 |
probably benign
Transcript: ENSMUST00000131767
|
SMART Domains |
Protein: ENSMUSP00000120916 Gene: ENSMUSG00000031537
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 null
Transcript: ENSMUST00000135326
AA Change: K171*
|
SMART Domains |
Protein: ENSMUSP00000138378 Gene: ENSMUSG00000031537 AA Change: K171*
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: 99.7%
- 20x: 98.9%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,220,165 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,733,690 (GRCm39) |
F1650S |
probably damaging |
Het |
Bscl2 |
A |
T |
19: 8,820,378 (GRCm39) |
D133V |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,590,288 (GRCm39) |
Y1564C |
|
Het |
Ccdc182 |
T |
C |
11: 88,185,178 (GRCm39) |
V86A |
probably benign |
Het |
Cd44 |
T |
G |
2: 102,661,747 (GRCm39) |
T616P |
possibly damaging |
Het |
Cep152 |
C |
T |
2: 125,405,904 (GRCm39) |
E1543K |
probably benign |
Het |
Chpf2 |
C |
A |
5: 24,794,235 (GRCm39) |
T135K |
probably damaging |
Het |
Cntn4 |
C |
T |
6: 106,466,722 (GRCm39) |
P208L |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
Csmd2 |
C |
A |
4: 128,313,323 (GRCm39) |
Y1333* |
probably null |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dbndd2 |
T |
C |
2: 164,328,077 (GRCm39) |
|
probably benign |
Het |
Ecpas |
T |
C |
4: 58,869,427 (GRCm39) |
K280R |
probably damaging |
Het |
Egfl8 |
C |
A |
17: 34,833,491 (GRCm39) |
A133S |
probably benign |
Het |
Fasn |
T |
C |
11: 120,703,915 (GRCm39) |
H1475R |
probably benign |
Het |
Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
Gzmd |
T |
G |
14: 56,368,790 (GRCm39) |
M35L |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,762,890 (GRCm39) |
L873Q |
probably damaging |
Het |
Hsd3b6 |
T |
C |
3: 98,713,679 (GRCm39) |
K207E |
probably benign |
Het |
Il21 |
T |
A |
3: 37,279,677 (GRCm39) |
|
probably null |
Het |
Itga1 |
T |
C |
13: 115,185,834 (GRCm39) |
N56S |
probably damaging |
Het |
Map1lc3b |
T |
C |
8: 122,322,833 (GRCm39) |
|
probably null |
Het |
Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
Myh3 |
C |
T |
11: 66,975,855 (GRCm39) |
P296S |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Myot |
T |
C |
18: 44,479,265 (GRCm39) |
V334A |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,186,988 (GRCm39) |
E12G |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Nvl |
A |
G |
1: 180,962,593 (GRCm39) |
Y126H |
probably damaging |
Het |
Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,660 (GRCm39) |
F202I |
probably benign |
Het |
Or8g29-ps1 |
T |
A |
9: 39,200,602 (GRCm39) |
N195Y |
unknown |
Het |
Or8g36 |
A |
T |
9: 39,422,149 (GRCm39) |
I289N |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,122,012 (GRCm39) |
D651E |
probably benign |
Het |
Papola |
T |
A |
12: 105,799,403 (GRCm39) |
H677Q |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,635,377 (GRCm39) |
S59G |
probably benign |
Het |
Pkd1l2 |
T |
A |
8: 117,746,159 (GRCm39) |
I1944F |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Polb |
A |
T |
8: 23,143,084 (GRCm39) |
N37K |
probably benign |
Het |
Ppfia2 |
T |
C |
10: 106,749,429 (GRCm39) |
V1105A |
probably damaging |
Het |
Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,914,456 (GRCm39) |
D1154G |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,129,550 (GRCm39) |
N1590K |
probably damaging |
Het |
Sec31a |
C |
A |
5: 100,533,083 (GRCm39) |
R163L |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
C |
T |
12: 104,231,728 (GRCm39) |
Q122* |
probably null |
Het |
Sgo2b |
A |
C |
8: 64,391,407 (GRCm39) |
Y153* |
probably null |
Het |
Sgsm1 |
T |
A |
5: 113,428,201 (GRCm39) |
H329L |
possibly damaging |
Het |
Sh3tc2 |
A |
C |
18: 62,107,598 (GRCm39) |
N203T |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,794,159 (GRCm39) |
T183K |
probably damaging |
Het |
Slc6a20a |
T |
C |
9: 123,507,941 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,891,156 (GRCm39) |
F732S |
probably damaging |
Het |
Spata16 |
T |
C |
3: 26,787,030 (GRCm39) |
V236A |
possibly damaging |
Het |
Stard5 |
A |
G |
7: 83,281,253 (GRCm39) |
D2G |
probably damaging |
Het |
Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
Tspan10 |
T |
C |
11: 120,337,051 (GRCm39) |
F274L |
probably benign |
Het |
Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
Vmn1r6 |
A |
G |
6: 56,979,760 (GRCm39) |
R141G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 101,996,359 (GRCm39) |
S3168P |
possibly damaging |
Het |
Zfp458 |
T |
A |
13: 67,405,218 (GRCm39) |
H407L |
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 |
|
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 |
|
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'- TCACAACAGTCTTTCCAGAGG -3'
(R):5'- GTACTCTCCCGTGAATGCTG -3'
Sequencing Primer
(F):5'- GTCTTTCCAGAGGGCACAAGAC -3'
(R):5'- CCGTGAATGCTGTGGCTCTAAG -3'
|
Posted On |
2022-03-25 |