Incidental Mutation 'R7383:Ikbkb'
| ID |
572875 |
| 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 |
045465-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23159066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 471
(A471S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033939
(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: A471S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: A471S
| 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: A471S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: A471S
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
A |
11: 5,818,548 (GRCm39) |
I511N |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,311,653 (GRCm39) |
V241G |
possibly damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,453 (GRCm39) |
I231N |
probably damaging |
Het |
| Bckdhb |
T |
G |
9: 83,835,766 (GRCm39) |
V90G |
possibly damaging |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,452,776 (GRCm39) |
I1248V |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,148 (GRCm39) |
V305E |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,198 (GRCm39) |
R489L |
unknown |
Het |
| Col24a1 |
A |
G |
3: 145,004,599 (GRCm39) |
I26V |
probably benign |
Het |
| Cort |
C |
T |
4: 149,209,861 (GRCm39) |
A64T |
possibly damaging |
Het |
| Dmkn |
T |
A |
7: 30,464,793 (GRCm39) |
N255K |
unknown |
Het |
| Dph2 |
A |
T |
4: 117,748,566 (GRCm39) |
L69Q |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,310,282 (GRCm39) |
I432T |
|
Het |
| Fgd3 |
T |
C |
13: 49,421,785 (GRCm39) |
K531R |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,099 (GRCm39) |
K111E |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,859,537 (GRCm39) |
D206E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,354 (GRCm39) |
L429Q |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,276 (GRCm39) |
F90S |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,098 (GRCm39) |
Q3112L |
unknown |
Het |
| Hsd17b4 |
A |
C |
18: 50,297,917 (GRCm39) |
K402T |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,747,206 (GRCm39) |
T29A |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,296,310 (GRCm39) |
D887G |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,411 (GRCm39) |
L805P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,025,537 (GRCm39) |
N118I |
probably benign |
Het |
| Kif26b |
T |
G |
1: 178,358,275 (GRCm39) |
C129G |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,790,821 (GRCm39) |
A2236T |
probably damaging |
Het |
| Micu2 |
T |
C |
14: 58,154,810 (GRCm39) |
Q405R |
possibly damaging |
Het |
| Myo1e |
T |
A |
9: 70,204,577 (GRCm39) |
V59D |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,552,532 (GRCm39) |
I1770T |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,392,183 (GRCm39) |
I190N |
probably damaging |
Het |
| Niban3 |
A |
C |
8: 72,056,470 (GRCm39) |
E390A |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,474,078 (GRCm39) |
H623Q |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,167,777 (GRCm39) |
T1005A |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,721 (GRCm39) |
S297G |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,960 (GRCm39) |
I99F |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,715 (GRCm39) |
*312Q |
probably null |
Het |
| Or2b4 |
A |
G |
17: 38,116,972 (GRCm39) |
K312R |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,557,011 (GRCm39) |
S209P |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Or8s8 |
C |
G |
15: 98,354,578 (GRCm39) |
P129R |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,880,147 (GRCm39) |
G177R |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,317 (GRCm39) |
S521P |
unknown |
Het |
| Plpp2 |
A |
T |
10: 79,366,841 (GRCm39) |
L25Q |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,129,734 (GRCm39) |
|
probably null |
Het |
| Ppl |
G |
T |
16: 4,915,835 (GRCm39) |
P576Q |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Rbfox1 |
G |
A |
16: 6,887,899 (GRCm39) |
G13S |
probably benign |
Het |
| Rhot1 |
C |
G |
11: 80,114,760 (GRCm39) |
P56R |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,385 (GRCm39) |
W1298R |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,890,292 (GRCm39) |
H338Y |
probably damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,579 (GRCm39) |
Y80S |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,003,608 (GRCm39) |
Y513* |
probably null |
Het |
| Smarcd2 |
A |
G |
11: 106,155,602 (GRCm39) |
C405R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,222,411 (GRCm39) |
R3198* |
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,636,841 (GRCm39) |
C180S |
probably damaging |
Het |
| Tmem132a |
A |
T |
19: 10,844,358 (GRCm39) |
M80K |
probably benign |
Het |
| Tnfsf12 |
A |
G |
11: 69,577,892 (GRCm39) |
V175A |
probably damaging |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,007,512 (GRCm39) |
I354F |
probably damaging |
Het |
| Uchl5 |
T |
A |
1: 143,659,753 (GRCm39) |
S42R |
probably benign |
Het |
| Virma |
C |
A |
4: 11,514,026 (GRCm39) |
L627I |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,684 (GRCm39) |
I143K |
probably benign |
Het |
| Vmn2r95 |
T |
G |
17: 18,660,734 (GRCm39) |
V382G |
probably benign |
Het |
| Wipf3 |
G |
T |
6: 54,462,263 (GRCm39) |
A158S |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,091,242 (GRCm39) |
S1809A |
possibly damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,524,748 (GRCm39) |
C191S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,253 (GRCm39) |
R84C |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,305,710 (GRCm39) |
V991D |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,637,960 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zswim2 |
A |
T |
2: 83,745,672 (GRCm39) |
S589T |
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 |
|
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 |
|
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'- GCAGCAATTTATCTGAGGCTGG -3'
(R):5'- GGAAGCTGCTTTGGTCACAG -3'
Sequencing Primer
(F):5'- AGTTAAAAACTGAACCATAAGAGGAC -3'
(R):5'- CTGCTTTGGTCACAGCGGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation