Incidental Mutation 'R5715:Ikbkb'
ID |
451113 |
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 |
043336-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5715 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23168866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 211
(L211P)
|
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 damaging
Transcript: ENSMUST00000033939
AA Change: L211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: L211P
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 damaging
Transcript: ENSMUST00000063401
AA Change: L211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: L211P
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 damaging
Transcript: ENSMUST00000125314
AA Change: L211P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138156 Gene: ENSMUSG00000031537 AA Change: L211P
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 damaging
Transcript: ENSMUST00000135326
AA Change: L211P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138378 Gene: ENSMUSG00000031537 AA Change: L211P
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: ENSMUST00000144583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146212
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
A |
11: 48,910,777 (GRCm39) |
Y552F |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,596 (GRCm39) |
D147E |
probably benign |
Het |
Atg4c |
G |
T |
4: 99,146,639 (GRCm39) |
L405F |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,938,615 (GRCm39) |
L2670F |
probably damaging |
Het |
Cdc20 |
T |
C |
4: 118,292,015 (GRCm39) |
D379G |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,791,798 (GRCm39) |
M2520V |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,619,018 (GRCm39) |
V707A |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,523,347 (GRCm39) |
C2743* |
probably null |
Het |
Coq6 |
C |
A |
12: 84,413,681 (GRCm39) |
D70E |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,798,335 (GRCm39) |
V1450D |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,452,937 (GRCm39) |
L3847P |
probably damaging |
Het |
Drd2 |
T |
A |
9: 49,316,189 (GRCm39) |
H316Q |
probably benign |
Het |
Dusp19 |
T |
A |
2: 80,461,330 (GRCm39) |
N206K |
probably benign |
Het |
Fam13c |
T |
G |
10: 70,370,670 (GRCm39) |
F270C |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,569,257 (GRCm39) |
E246G |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,302 (GRCm39) |
F65L |
probably damaging |
Het |
Fshr |
T |
A |
17: 89,293,824 (GRCm39) |
|
probably null |
Het |
Fstl4 |
T |
C |
11: 52,891,243 (GRCm39) |
V127A |
possibly damaging |
Het |
Gdpd4 |
A |
T |
7: 97,610,804 (GRCm39) |
I75F |
probably benign |
Het |
Grm5 |
C |
A |
7: 87,779,464 (GRCm39) |
A968E |
probably benign |
Het |
Gucy2g |
A |
C |
19: 55,221,587 (GRCm39) |
F305V |
possibly damaging |
Het |
Hivep3 |
T |
C |
4: 119,953,570 (GRCm39) |
F629L |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,152 (GRCm39) |
E167G |
probably benign |
Het |
Hoxd4 |
T |
C |
2: 74,557,708 (GRCm39) |
L29P |
probably damaging |
Het |
Insc |
T |
C |
7: 114,449,076 (GRCm39) |
V499A |
probably benign |
Het |
Irak3 |
A |
T |
10: 119,978,641 (GRCm39) |
H511Q |
possibly damaging |
Het |
Itpripl1 |
T |
C |
2: 126,983,927 (GRCm39) |
E65G |
probably damaging |
Het |
Lurap1l |
T |
A |
4: 80,871,958 (GRCm39) |
S150R |
possibly damaging |
Het |
Mab21l3 |
C |
T |
3: 101,730,723 (GRCm39) |
R172Q |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
Mettl21a |
A |
T |
1: 64,654,314 (GRCm39) |
S68T |
probably benign |
Het |
Mlxip |
T |
A |
5: 123,578,121 (GRCm39) |
W146R |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,953,087 (GRCm39) |
N285I |
probably damaging |
Het |
Mrgprb4 |
T |
C |
7: 47,848,787 (GRCm39) |
N47S |
probably damaging |
Het |
Msi2 |
A |
G |
11: 88,276,889 (GRCm39) |
Y237H |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,570,734 (GRCm39) |
T598I |
possibly damaging |
Het |
Musk |
A |
T |
4: 58,333,663 (GRCm39) |
I253F |
probably damaging |
Het |
Myo5b |
G |
T |
18: 74,875,246 (GRCm39) |
C1550F |
possibly damaging |
Het |
Nckap5l |
T |
C |
15: 99,321,457 (GRCm39) |
T1137A |
probably benign |
Het |
Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
Nxph1 |
T |
A |
6: 9,247,740 (GRCm39) |
V237E |
probably damaging |
Het |
Or52a33 |
A |
C |
7: 103,289,009 (GRCm39) |
S113A |
probably damaging |
Het |
Pla2g12a |
A |
G |
3: 129,688,591 (GRCm39) |
K150E |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,097,989 (GRCm39) |
Y56H |
possibly damaging |
Het |
Pramel30 |
A |
G |
4: 144,057,870 (GRCm39) |
D159G |
possibly damaging |
Het |
Ptpn23 |
G |
A |
9: 110,216,143 (GRCm39) |
R1238W |
probably damaging |
Het |
Pts |
C |
T |
9: 50,433,578 (GRCm39) |
G124R |
probably damaging |
Het |
Rfk |
A |
T |
19: 17,376,002 (GRCm39) |
I99F |
probably benign |
Het |
Rictor |
A |
T |
15: 6,780,197 (GRCm39) |
R151* |
probably null |
Het |
Scn2a |
T |
A |
2: 65,547,928 (GRCm39) |
I1040N |
probably benign |
Het |
Serinc5 |
A |
C |
13: 92,842,710 (GRCm39) |
T387P |
probably damaging |
Het |
Sh3bp5l |
A |
G |
11: 58,236,841 (GRCm39) |
Q266R |
possibly damaging |
Het |
Slc14a2 |
T |
C |
18: 78,201,551 (GRCm39) |
Y656C |
probably damaging |
Het |
Slc26a3 |
T |
A |
12: 31,498,842 (GRCm39) |
|
probably null |
Het |
Slc3a2 |
G |
T |
19: 8,685,594 (GRCm39) |
H168Q |
probably benign |
Het |
Smarca2 |
A |
T |
19: 26,626,522 (GRCm39) |
I449L |
probably benign |
Het |
Smarcc1 |
T |
C |
9: 110,025,435 (GRCm39) |
V704A |
possibly damaging |
Het |
Sox13 |
A |
G |
1: 133,313,921 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
T |
C |
2: 119,902,985 (GRCm39) |
E7G |
probably damaging |
Het |
Stard10 |
A |
G |
7: 100,971,110 (GRCm39) |
D26G |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,411,868 (GRCm39) |
R91* |
probably null |
Het |
Tgfbrap1 |
A |
T |
1: 43,099,097 (GRCm39) |
V239D |
possibly damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,922 (GRCm39) |
Y124* |
probably null |
Het |
Tmprss2 |
T |
A |
16: 97,370,183 (GRCm39) |
E327V |
possibly damaging |
Het |
Ttbk1 |
T |
C |
17: 46,790,133 (GRCm39) |
Y104C |
probably damaging |
Het |
Ttll10 |
A |
T |
4: 156,129,848 (GRCm39) |
F154I |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,438,412 (GRCm39) |
Y40* |
probably null |
Het |
Ubr5 |
A |
T |
15: 38,002,477 (GRCm39) |
S1519T |
probably benign |
Het |
Ugt3a1 |
A |
C |
15: 9,306,430 (GRCm39) |
D193A |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,805,628 (GRCm39) |
Y6N |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,015,201 (GRCm39) |
D447V |
probably benign |
Het |
Vps39 |
T |
C |
2: 120,155,717 (GRCm39) |
N519S |
possibly damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,995 (GRCm39) |
E138G |
possibly damaging |
Het |
Znrf3 |
A |
C |
11: 5,236,239 (GRCm39) |
V157G |
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 |
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'- AAAGCTTGAACTGCCACGG -3'
(R):5'- GTCAGTTACCCACAGCTGAG -3'
Sequencing Primer
(F):5'- TCCTAAGGGAGAACGGACCAC -3'
(R):5'- ACAGCTGAGCCTGCTTG -3'
|
Posted On |
2017-01-03 |