Incidental Mutation 'R2148:Ikbkb'
| ID |
234017 |
| 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 |
040151-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23149228-23196605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23172761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 153
(L153Q)
|
| 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 damaging
Transcript: ENSMUST00000033939
AA Change: L153Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: L153Q
| 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: L153Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: L153Q
| 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 damaging
Transcript: ENSMUST00000125314
AA Change: L153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: L153Q
| 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: ENSMUST00000131767
|
| SMART Domains |
Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537
| 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 damaging
Transcript: ENSMUST00000135326
AA Change: L153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: L153Q
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,565,764 (GRCm39) |
Y4796C |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,315,835 (GRCm39) |
M228K |
probably damaging |
Het |
| Agbl1 |
T |
G |
7: 76,064,465 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
T |
G |
10: 20,846,875 (GRCm39) |
V435G |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,339,487 (GRCm39) |
V286A |
probably damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,356,304 (GRCm39) |
Q1887L |
possibly damaging |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
A |
G |
10: 116,342,185 (GRCm39) |
I173T |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,311,199 (GRCm39) |
I564N |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Dgkd |
T |
G |
1: 87,809,643 (GRCm39) |
N110K |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,629,203 (GRCm39) |
R198* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,956,232 (GRCm39) |
I2071F |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,098,695 (GRCm39) |
R828Q |
probably damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,427,333 (GRCm39) |
F525L |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,701 (GRCm39) |
V343A |
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,192 (GRCm39) |
V131A |
probably benign |
Het |
| Hamp |
T |
C |
7: 30,642,137 (GRCm39) |
T34A |
possibly damaging |
Het |
| Homer2 |
T |
G |
7: 81,274,043 (GRCm39) |
D51A |
possibly damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,366 (GRCm39) |
A135V |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,243,998 (GRCm39) |
M112T |
possibly damaging |
Het |
| Kif19a |
A |
T |
11: 114,671,594 (GRCm39) |
I158F |
probably damaging |
Het |
| L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
| Llcfc1 |
G |
A |
6: 41,662,155 (GRCm39) |
G53D |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,592,631 (GRCm39) |
|
probably null |
Het |
| Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,195,513 (GRCm39) |
K400R |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,790 (GRCm39) |
F335L |
probably benign |
Het |
| Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
| Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
C |
4: 148,540,469 (GRCm39) |
F245L |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,087,429 (GRCm39) |
L1095H |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,733 (GRCm39) |
K506* |
probably null |
Het |
| Or5d18 |
C |
A |
2: 87,864,943 (GRCm39) |
C180F |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,744,115 (GRCm39) |
D588G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,783,064 (GRCm39) |
I752N |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,484,444 (GRCm39) |
|
probably null |
Het |
| Plod3 |
C |
T |
5: 137,016,627 (GRCm39) |
R30* |
probably null |
Het |
| Ppfia4 |
T |
C |
1: 134,240,372 (GRCm39) |
I591V |
probably benign |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Ptgs2 |
G |
T |
1: 149,981,465 (GRCm39) |
A583S |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,734,413 (GRCm39) |
V231A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,273,807 (GRCm39) |
D540G |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,800,096 (GRCm39) |
I150N |
probably damaging |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,410,827 (GRCm39) |
L34P |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,534,926 (GRCm39) |
Y106C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,089,657 (GRCm39) |
W158R |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,365,268 (GRCm39) |
F172I |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,636,447 (GRCm39) |
D91V |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,552,638 (GRCm39) |
F187L |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,540,026 (GRCm39) |
W351R |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Trap1 |
T |
C |
16: 3,878,624 (GRCm39) |
D236G |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,839,360 (GRCm39) |
L754* |
probably null |
Het |
| Tubgcp5 |
A |
G |
7: 55,449,259 (GRCm39) |
E152G |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,776,961 (GRCm39) |
L447F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,230,807 (GRCm39) |
|
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,013,670 (GRCm39) |
S1879T |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
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 |
|
|
R2124:Ikbkb
|
UTSW |
8 |
23,156,036 (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'- TGCTTGCACTGCTGTTTCAAG -3'
(R):5'- CACCGTATTGTCTCTTGCAGGC -3'
Sequencing Primer
(F):5'- GCTTGCACTGCTGTTTCAAGAAAAAC -3'
(R):5'- CTTGCAGGCTAGTCAATTCTGAGAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation