Incidental Mutation 'IGL03085:Ikbkb'
| ID |
418048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ikbkb
|
| Ensembl Gene |
ENSMUSG00000031537 |
| Gene Name |
inhibitor of kappaB kinase beta |
| Synonyms |
IKK[b], IKK-beta, IKK-2, IKK2, IKKbeta |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23172802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 139
(N139K)
|
| 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
AA Change: N139K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: N139K
| 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: N139K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: N139K
| 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
AA Change: N139K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: N139K
| 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 |
unknown
Transcript: ENSMUST00000131767
AA Change: N90K
|
| SMART Domains |
Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537
AA Change: N90K
| 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 |
probably benign
Transcript: ENSMUST00000135326
AA Change: N139K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: N139K
| 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: ENSMUST00000143638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150259
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,881 (GRCm39) |
H230Q |
probably benign |
Het |
| Aagab |
T |
A |
9: 63,546,316 (GRCm39) |
|
probably benign |
Het |
| Actl11 |
G |
T |
9: 107,806,749 (GRCm39) |
K357N |
probably damaging |
Het |
| Aktip |
A |
G |
8: 91,852,651 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,529,501 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,919,532 (GRCm39) |
M58L |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,785 (GRCm39) |
Y38F |
probably damaging |
Het |
| Asb10 |
T |
C |
5: 24,744,601 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,395,471 (GRCm39) |
D1699E |
possibly damaging |
Het |
| Azi2 |
A |
C |
9: 117,888,214 (GRCm39) |
K259T |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,367,609 (GRCm39) |
D77G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,903,945 (GRCm39) |
R1246H |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,015,463 (GRCm39) |
D559E |
probably damaging |
Het |
| Chrm3 |
C |
T |
13: 9,927,570 (GRCm39) |
A489T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,126,967 (GRCm39) |
Y404N |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,015 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,272,198 (GRCm39) |
K731* |
probably null |
Het |
| Corin |
A |
T |
5: 72,511,273 (GRCm39) |
C360S |
probably damaging |
Het |
| Cyp1a1 |
A |
C |
9: 57,608,995 (GRCm39) |
H292P |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,928,893 (GRCm39) |
V760A |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,565,526 (GRCm39) |
D842G |
possibly damaging |
Het |
| Emp2 |
C |
A |
16: 10,105,910 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,969,093 (GRCm39) |
R136C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,072 (GRCm39) |
M2214L |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,882,211 (GRCm38) |
R304H |
probably benign |
Het |
| G6pd2 |
A |
T |
5: 61,967,645 (GRCm39) |
E473D |
probably benign |
Het |
| Gpx8 |
A |
G |
13: 113,179,795 (GRCm39) |
Y169H |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,461 (GRCm39) |
S19P |
possibly damaging |
Het |
| Inpp5b |
A |
T |
4: 124,686,115 (GRCm39) |
T720S |
probably benign |
Het |
| Kmt2d |
C |
A |
15: 98,737,821 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,374,575 (GRCm39) |
P169S |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,655 (GRCm39) |
K1354I |
possibly damaging |
Het |
| Mapk9 |
A |
T |
11: 49,757,865 (GRCm39) |
D103V |
probably damaging |
Het |
| Mrpl46 |
A |
T |
7: 78,431,333 (GRCm39) |
I75N |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,511 (GRCm39) |
I177N |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,479 (GRCm39) |
E16G |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,788,959 (GRCm39) |
M162I |
probably benign |
Het |
| Otog |
G |
T |
7: 45,955,346 (GRCm39) |
|
probably null |
Het |
| Pex11a |
A |
G |
7: 79,387,523 (GRCm39) |
L103P |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,305 (GRCm39) |
T687A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,989 (GRCm39) |
I302V |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,805,304 (GRCm39) |
V549F |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,292,258 (GRCm39) |
P107L |
probably benign |
Het |
| Rasa3 |
T |
A |
8: 13,635,690 (GRCm39) |
N422I |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,460,589 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
T |
14: 59,131,156 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6ka2 |
G |
A |
17: 7,562,679 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
A |
1: 83,258,075 (GRCm39) |
I223F |
possibly damaging |
Het |
| Srm |
T |
C |
4: 148,677,838 (GRCm39) |
F159L |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,644,266 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,638,027 (GRCm39) |
S395P |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,921,260 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
C |
T |
5: 24,651,096 (GRCm39) |
G188S |
probably damaging |
Het |
| Trim66 |
T |
A |
7: 109,057,952 (GRCm39) |
I877F |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,029,812 (GRCm39) |
E471G |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,481 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,689,615 (GRCm39) |
D39E |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,723,805 (GRCm39) |
P240Q |
probably damaging |
Het |
| Zc3h12a |
A |
T |
4: 125,020,813 (GRCm39) |
V10D |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,746,350 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation