Incidental Mutation 'R2121:Ikbkb'
| ID |
231453 |
| 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 |
040125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2121 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 23157233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138378
(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
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
| 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
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
| Akna |
G |
A |
4: 63,295,137 (GRCm39) |
T1024I |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,247,704 (GRCm39) |
N263Y |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
| Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
| Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
| Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
| Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
| Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,731,341 (GRCm39) |
S183P |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
| Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
| Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
| Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
| Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
| Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
| Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
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 |
|
|
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'- AGGACACCTTTCCTTGTCAC -3'
(R):5'- ACATGCCTTCTAGCCAGTCAG -3'
Sequencing Primer
(F):5'- CTTCACAGGGACAAGGCTC -3'
(R):5'- TTCTAGCCAGTCAGCTGAGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation