Incidental Mutation 'R6875:Ikbkb'
ID |
536378 |
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 |
044971-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6875 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23155909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 586
(D586G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033939]
[ENSMUST00000063401]
[ENSMUST00000125314]
[ENSMUST00000132279]
[ENSMUST00000135326]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033939
AA Change: D586G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: D586G
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: D586G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: D586G
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 |
probably benign
Transcript: ENSMUST00000132279
|
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 |
|
Meta Mutation Damage Score |
0.3859 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (58/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
C |
15: 12,812,154 (GRCm39) |
H270R |
probably damaging |
Het |
Abcb1a |
T |
C |
5: 8,751,628 (GRCm39) |
I336T |
probably benign |
Het |
Adam19 |
T |
A |
11: 46,003,702 (GRCm39) |
F177I |
probably benign |
Het |
Ankrd53 |
T |
C |
6: 83,745,155 (GRCm39) |
V455A |
probably damaging |
Het |
Arrdc1 |
A |
G |
2: 24,815,677 (GRCm39) |
S415P |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,447,100 (GRCm39) |
L614P |
probably benign |
Het |
Catsper1 |
G |
T |
19: 5,393,991 (GRCm39) |
V668F |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,552,744 (GRCm39) |
D596E |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,444,175 (GRCm39) |
S407P |
probably benign |
Het |
Commd6 |
T |
C |
14: 101,871,786 (GRCm39) |
T86A |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,762,001 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,969,760 (GRCm39) |
D252G |
probably damaging |
Het |
Epha2 |
A |
T |
4: 141,055,779 (GRCm39) |
S962C |
probably damaging |
Het |
Fcho1 |
C |
A |
8: 72,167,069 (GRCm39) |
|
probably null |
Het |
Fgf23 |
G |
T |
6: 127,050,179 (GRCm39) |
G63C |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,445,748 (GRCm39) |
Y834F |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,726,169 (GRCm39) |
L608P |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,093,102 (GRCm39) |
E545V |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,976,291 (GRCm39) |
M166K |
probably benign |
Het |
Il36g |
G |
C |
2: 24,078,633 (GRCm39) |
|
probably null |
Het |
Ipo13 |
A |
T |
4: 117,762,108 (GRCm39) |
I422N |
possibly damaging |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,422,377 (GRCm39) |
A896T |
probably benign |
Het |
Kif28 |
A |
G |
1: 179,563,559 (GRCm39) |
I139T |
probably damaging |
Het |
Klhl25 |
A |
G |
7: 75,516,090 (GRCm39) |
E332G |
probably damaging |
Het |
Krt8 |
C |
T |
15: 101,906,343 (GRCm39) |
A389T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,011 (GRCm39) |
S175G |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,950,931 (GRCm39) |
S1519P |
probably benign |
Het |
Npnt |
T |
A |
3: 132,615,671 (GRCm39) |
D124V |
probably damaging |
Het |
Nr1d1 |
A |
T |
11: 98,661,662 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,290,477 (GRCm39) |
Y365C |
probably benign |
Het |
Or4f56 |
A |
T |
2: 111,703,306 (GRCm39) |
I298N |
possibly damaging |
Het |
Phf21b |
A |
T |
15: 84,671,647 (GRCm39) |
C416S |
probably damaging |
Het |
Prpsap1 |
A |
G |
11: 116,362,264 (GRCm39) |
S373P |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,433,320 (GRCm39) |
N380I |
probably benign |
Het |
Rab28 |
T |
C |
5: 41,860,877 (GRCm39) |
T26A |
probably damaging |
Het |
Rbbp8nl |
A |
G |
2: 179,921,019 (GRCm39) |
I455T |
probably benign |
Het |
Rnft2 |
G |
A |
5: 118,366,883 (GRCm39) |
A285V |
possibly damaging |
Het |
Rrp36 |
G |
T |
17: 46,983,297 (GRCm39) |
Q106K |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,315,710 (GRCm39) |
L1666P |
probably damaging |
Het |
Siglecf |
A |
C |
7: 43,004,624 (GRCm39) |
T318P |
probably benign |
Het |
Slc22a1 |
C |
T |
17: 12,886,192 (GRCm39) |
W147* |
probably null |
Het |
Smchd1 |
T |
C |
17: 71,660,501 (GRCm39) |
I1868V |
probably damaging |
Het |
Snx21 |
A |
G |
2: 164,633,822 (GRCm39) |
S203G |
probably damaging |
Het |
Srl |
T |
C |
16: 4,300,695 (GRCm39) |
K792R |
probably benign |
Het |
Srrt |
A |
G |
5: 137,296,935 (GRCm39) |
F100S |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,527,917 (GRCm39) |
M1391I |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,082,404 (GRCm39) |
E119G |
probably damaging |
Het |
Syt11 |
G |
T |
3: 88,669,462 (GRCm39) |
S143R |
possibly damaging |
Het |
Tiparp |
T |
A |
3: 65,439,063 (GRCm39) |
H126Q |
probably benign |
Het |
Tulp2 |
C |
A |
7: 45,168,038 (GRCm39) |
T150K |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
Usp31 |
C |
T |
7: 121,248,863 (GRCm39) |
W860* |
probably null |
Het |
Zfp317 |
A |
G |
9: 19,554,961 (GRCm39) |
R30G |
probably damaging |
Het |
Zfp709 |
C |
A |
8: 72,642,851 (GRCm39) |
N93K |
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 |
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'- CGGTTCTTCACTGTGTAGGCAAG -3'
(R):5'- AAGAGTTAGCAGGCTGGTGC -3'
Sequencing Primer
(F):5'- TTCACTGTGTAGGCAAGGCAGAG -3'
(R):5'- CAGGCTGGTGCTTAAATGTCC -3'
|
Posted On |
2018-10-18 |