Incidental Mutation 'R2124:Ikbkb'
ID |
229666 |
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 |
040127-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23156036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 570
(L570P)
|
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: L570P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033939 Gene: ENSMUSG00000031537 AA Change: L570P
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: L570P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064235 Gene: ENSMUSG00000031537 AA Change: L570P
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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146212
|
Meta Mutation Damage Score |
0.8724 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (80/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,342,930 (GRCm39) |
D339G |
probably damaging |
Het |
Ahctf1 |
C |
A |
1: 179,597,017 (GRCm39) |
R43L |
probably damaging |
Het |
Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
C |
18: 38,106,403 (GRCm39) |
L1480R |
probably damaging |
Het |
Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,087,608 (GRCm39) |
V8I |
probably benign |
Het |
Aven |
T |
A |
2: 112,455,541 (GRCm39) |
W26R |
probably damaging |
Het |
Car4 |
T |
A |
11: 84,854,911 (GRCm39) |
|
probably benign |
Het |
Cd163 |
C |
T |
6: 124,295,815 (GRCm39) |
R720C |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
Cdh3 |
A |
T |
8: 107,279,520 (GRCm39) |
H712L |
probably damaging |
Het |
Cdr2 |
T |
C |
7: 120,581,250 (GRCm39) |
E9G |
probably damaging |
Het |
Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,676,648 (GRCm39) |
|
probably benign |
Het |
Col4a2 |
C |
A |
8: 11,466,070 (GRCm39) |
P443Q |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Ddias |
T |
C |
7: 92,507,464 (GRCm39) |
Q817R |
probably benign |
Het |
Ddx6 |
C |
T |
9: 44,535,816 (GRCm39) |
Q182* |
probably null |
Het |
Dhrs7 |
A |
G |
12: 72,699,951 (GRCm39) |
I227T |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,653,071 (GRCm39) |
M970L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,536,101 (GRCm39) |
D2647E |
possibly damaging |
Het |
Dstyk |
G |
A |
1: 132,380,857 (GRCm39) |
G451R |
possibly damaging |
Het |
Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,342,121 (GRCm39) |
R510C |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,912,053 (GRCm39) |
E1409G |
probably damaging |
Het |
Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,791,444 (GRCm39) |
Y902H |
probably benign |
Het |
Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,409 (GRCm39) |
D110V |
probably damaging |
Het |
Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
Gm10542 |
T |
A |
18: 44,334,355 (GRCm39) |
W9R |
probably null |
Het |
Gpaa1 |
A |
G |
15: 76,217,552 (GRCm39) |
Y330C |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,456,702 (GRCm39) |
L689P |
probably damaging |
Het |
Hoxd3 |
C |
A |
2: 74,574,578 (GRCm39) |
P75T |
possibly damaging |
Het |
Il1rap |
A |
T |
16: 26,529,315 (GRCm39) |
H379L |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
Kidins220 |
G |
A |
12: 25,091,302 (GRCm39) |
|
probably null |
Het |
Kif1b |
T |
C |
4: 149,306,753 (GRCm39) |
D869G |
probably benign |
Het |
Loxl2 |
T |
C |
14: 69,929,859 (GRCm39) |
Y746H |
probably benign |
Het |
Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
Prkdc |
T |
C |
16: 15,537,297 (GRCm39) |
V1716A |
probably benign |
Het |
Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,474,732 (GRCm39) |
R200* |
probably null |
Het |
Rnf168 |
T |
G |
16: 32,097,036 (GRCm39) |
L37R |
probably damaging |
Het |
Sall3 |
C |
T |
18: 81,015,012 (GRCm39) |
G972D |
probably benign |
Het |
Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
Sdk1 |
C |
A |
5: 142,170,943 (GRCm39) |
D1935E |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Syt16 |
T |
A |
12: 74,285,009 (GRCm39) |
S401T |
probably damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,494,146 (GRCm39) |
Y983C |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,870,041 (GRCm39) |
|
probably null |
Het |
Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
Tmem44 |
T |
A |
16: 30,366,262 (GRCm39) |
K55* |
probably null |
Het |
Top2a |
T |
C |
11: 98,895,054 (GRCm39) |
I849V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,624,792 (GRCm39) |
V13516A |
probably damaging |
Het |
Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
C |
10: 130,227,100 (GRCm39) |
M246R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,646,226 (GRCm39) |
N1443K |
probably benign |
Het |
Wfdc6b |
C |
T |
2: 164,459,363 (GRCm39) |
R142C |
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,869 (GRCm39) |
|
probably null |
Het |
Zmym1 |
T |
C |
4: 126,943,363 (GRCm39) |
T244A |
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 |
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 |
|
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'- AAGCTTTGGATTGCCTGAAGC -3'
(R):5'- CTCTTGTAGCTAAGCAGAAGAGGAC -3'
Sequencing Primer
(F):5'- TGAAGCAGCAGCCGTAC -3'
(R):5'- AGAGGACTGTAATCTTTAAGGCTG -3'
|
Posted On |
2014-09-17 |