Incidental Mutation 'R1645:Ikbkb'
ID |
173820 |
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 |
039681-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1645 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 23181082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 127
(S127I)
|
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: S127I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: S127I
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: S127I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: S127I
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 |
possibly damaging
Transcript: ENSMUST00000125314
AA Change: S127I
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138156 Gene: ENSMUSG00000031537 AA Change: S127I
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: ENSMUST00000126439
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131767
AA Change: S78I
|
SMART Domains |
Protein: ENSMUSP00000120916 Gene: ENSMUSG00000031537 AA Change: S78I
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 |
possibly damaging
Transcript: ENSMUST00000135326
AA Change: S127I
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138378 Gene: ENSMUSG00000031537 AA Change: S127I
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150259
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
probably benign |
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 |
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 |
|
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'- CATGACCCCAGCGTATTAACAGGAG -3'
(R):5'- TCACTGACTGACCCAGGAGCAATC -3'
Sequencing Primer
(F):5'- CATTCCTACTGTGACTTAGAGAGG -3'
(R):5'- TGCCAGTACAACTGCTCCAG -3'
|
Posted On |
2014-04-24 |