Incidental Mutation 'R4723:Ikbkb'
ID |
397160 |
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 |
041959-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4723 (G1)
|
Quality Score |
187 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23159623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 455
(M455K)
|
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 benign
Transcript: ENSMUST00000033939
AA Change: M455K
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: M455K
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: M455K
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: M455K
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: 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
|
Meta Mutation Damage Score |
0.5192 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
94% (77/82) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,581,644 (GRCm39) |
D4800G |
probably benign |
Het |
Akna |
T |
C |
4: 63,305,269 (GRCm39) |
D499G |
probably benign |
Het |
Arid1b |
A |
C |
17: 5,387,565 (GRCm39) |
I1673L |
probably benign |
Het |
Bcr |
T |
A |
10: 75,011,161 (GRCm39) |
M24K |
probably benign |
Het |
Bsn |
A |
G |
9: 107,989,854 (GRCm39) |
V1966A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,867,227 (GRCm39) |
N928S |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
G |
A |
11: 98,799,657 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
A |
T |
8: 13,785,937 (GRCm39) |
N69I |
probably damaging |
Het |
Cmtm1 |
C |
T |
8: 105,020,307 (GRCm39) |
A371T |
probably damaging |
Het |
Cmtm7 |
A |
C |
9: 114,592,459 (GRCm39) |
V46G |
possibly damaging |
Het |
Cmtr1 |
A |
G |
17: 29,906,131 (GRCm39) |
|
probably null |
Het |
Col5a3 |
T |
C |
9: 20,720,887 (GRCm39) |
H149R |
unknown |
Het |
Coro7 |
T |
G |
16: 4,449,858 (GRCm39) |
Q634P |
probably benign |
Het |
Crym |
A |
G |
7: 119,800,298 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
T |
15: 47,532,556 (GRCm39) |
F2546L |
probably benign |
Het |
Dmap1 |
T |
C |
4: 117,533,236 (GRCm39) |
T273A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,994,899 (GRCm39) |
Y2786C |
probably damaging |
Het |
Echs1 |
A |
C |
7: 139,690,561 (GRCm39) |
|
probably benign |
Het |
Edem3 |
T |
A |
1: 151,680,449 (GRCm39) |
F525I |
possibly damaging |
Het |
Exosc3 |
T |
C |
4: 45,319,642 (GRCm39) |
I127V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,578,130 (GRCm39) |
D208G |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,508,621 (GRCm39) |
V773A |
probably benign |
Het |
Gas6 |
A |
G |
8: 13,516,848 (GRCm39) |
V550A |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm2423 |
A |
G |
13: 13,406,961 (GRCm39) |
|
noncoding transcript |
Het |
Grin1 |
T |
C |
2: 25,184,482 (GRCm39) |
S911G |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,236,133 (GRCm39) |
I470V |
probably benign |
Het |
Hsdl2 |
T |
A |
4: 59,593,270 (GRCm39) |
|
probably benign |
Het |
Iars2 |
A |
G |
1: 185,048,176 (GRCm39) |
Y519H |
probably damaging |
Het |
Keap1 |
G |
T |
9: 21,142,706 (GRCm39) |
H516Q |
probably benign |
Het |
Klk1b27 |
A |
T |
7: 43,705,956 (GRCm39) |
I220F |
probably damaging |
Het |
Knop1 |
G |
A |
7: 118,455,087 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,030 (GRCm39) |
T499A |
probably benign |
Het |
Lrch3 |
A |
T |
16: 32,808,854 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,648,962 (GRCm39) |
L1652P |
probably damaging |
Het |
Mbl1 |
T |
C |
14: 40,876,515 (GRCm39) |
V71A |
possibly damaging |
Het |
Med8 |
T |
A |
4: 118,268,998 (GRCm39) |
M1K |
probably null |
Het |
Mfsd2b |
A |
G |
12: 4,918,992 (GRCm39) |
L88P |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,588,811 (GRCm39) |
C185S |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,670,667 (GRCm39) |
|
probably benign |
Het |
Napg |
T |
G |
18: 63,125,563 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,269,438 (GRCm39) |
M253T |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,904,321 (GRCm39) |
T518A |
unknown |
Het |
Obox3-ps8 |
A |
G |
17: 36,764,036 (GRCm39) |
|
noncoding transcript |
Het |
Opn5 |
A |
T |
17: 42,918,091 (GRCm39) |
M57K |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,028 (GRCm39) |
F195L |
probably benign |
Het |
Or13j1 |
T |
C |
4: 43,705,785 (GRCm39) |
K261R |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,267,696 (GRCm39) |
V270A |
possibly damaging |
Het |
Pde2a |
C |
G |
7: 101,143,825 (GRCm39) |
P148R |
possibly damaging |
Het |
Prss56 |
C |
T |
1: 87,113,059 (GRCm39) |
L158F |
possibly damaging |
Het |
Psmg3 |
G |
A |
5: 139,812,125 (GRCm39) |
|
probably benign |
Het |
Rnase9 |
C |
T |
14: 51,276,901 (GRCm39) |
G26R |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,975,433 (GRCm39) |
V131A |
possibly damaging |
Het |
Slc10a4 |
T |
A |
5: 73,169,398 (GRCm39) |
V341E |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,741 (GRCm39) |
Y188C |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,272,250 (GRCm39) |
P476T |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,743,742 (GRCm39) |
C474* |
probably null |
Het |
Smurf1 |
A |
T |
5: 144,829,994 (GRCm39) |
D336E |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,875,592 (GRCm39) |
S448N |
probably benign |
Het |
Spag11a |
G |
A |
8: 19,209,398 (GRCm39) |
V63I |
possibly damaging |
Het |
Sprr1b |
T |
G |
3: 92,344,600 (GRCm39) |
K92T |
probably damaging |
Het |
Stam2 |
T |
C |
2: 52,610,962 (GRCm39) |
Y20C |
probably benign |
Het |
Sult2b1 |
T |
A |
7: 45,391,489 (GRCm39) |
Y97F |
probably damaging |
Het |
Tecpr2 |
C |
T |
12: 110,899,410 (GRCm39) |
P593S |
probably benign |
Het |
Tek |
T |
C |
4: 94,687,397 (GRCm39) |
V170A |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,500,592 (GRCm39) |
Y891C |
probably benign |
Het |
Tmem220 |
A |
G |
11: 66,920,819 (GRCm39) |
T75A |
possibly damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,675,015 (GRCm39) |
H56R |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,602 (GRCm39) |
N367Y |
probably benign |
Het |
Vnn3 |
A |
G |
10: 23,727,589 (GRCm39) |
I36M |
possibly damaging |
Het |
Zbtb7a |
G |
A |
10: 80,980,274 (GRCm39) |
R156H |
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 |
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'- ACCCAAGTTCTGCACTCCTG -3'
(R):5'- AAATCGCGGCAATGCTGTAG -3'
Sequencing Primer
(F):5'- GCCCCATTCTCTAAGCCCTGG -3'
(R):5'- GCAATGCTGTAGGGCGG -3'
|
Posted On |
2016-06-24 |