Incidental Mutation 'IGL00331:Chuk'
| ID |
3172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chuk
|
| Ensembl Gene |
ENSMUSG00000025199 |
| Gene Name |
conserved helix-loop-helix ubiquitous kinase |
| Synonyms |
IKK1, IKK alpha, IKK[a], IKKalpha, IKK-1, IKK-alpha, Chuk1, IkappaB kinase alpha, IKK 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44076462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 416
(I416M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026217
AA Change: I416M
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: I416M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
15 |
254 |
3.5e-39 |
PFAM |
|
Pfam:Pkinase
|
15 |
298 |
8.3e-55 |
PFAM |
|
Blast:PHB
|
589 |
659 |
1e-38 |
BLAST |
|
IKKbetaNEMObind
|
706 |
743 |
1.64e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119591
AA Change: I416M
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: I416M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
15 |
253 |
9.1e-38 |
PFAM |
|
Pfam:Pkinase
|
15 |
298 |
8.5e-54 |
PFAM |
|
Blast:PHB
|
589 |
659 |
8e-39 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147423
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
| Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
| Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
| Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
| Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
| Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
| Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
| Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
| Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
| Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
| Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
| Other mutations in Chuk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Chuk
|
APN |
19 |
44,066,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00662:Chuk
|
APN |
19 |
44,085,649 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01419:Chuk
|
APN |
19 |
44,085,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01728:Chuk
|
APN |
19 |
44,087,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01753:Chuk
|
APN |
19 |
44,087,015 (GRCm39) |
splice site |
probably benign |
|
|
woodchuck
|
UTSW |
19 |
44,067,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Chuk
|
UTSW |
19 |
44,087,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4382001:Chuk
|
UTSW |
19 |
44,087,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0107:Chuk
|
UTSW |
19 |
44,085,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Chuk
|
UTSW |
19 |
44,085,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Chuk
|
UTSW |
19 |
44,070,377 (GRCm39) |
splice site |
probably benign |
|
|
R0731:Chuk
|
UTSW |
19 |
44,092,205 (GRCm39) |
splice site |
probably benign |
|
|
R0846:Chuk
|
UTSW |
19 |
44,079,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Chuk
|
UTSW |
19 |
44,067,397 (GRCm39) |
missense |
probably null |
1.00 |
|
R1585:Chuk
|
UTSW |
19 |
44,065,812 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2020:Chuk
|
UTSW |
19 |
44,095,782 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2179:Chuk
|
UTSW |
19 |
44,092,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2441:Chuk
|
UTSW |
19 |
44,085,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4125:Chuk
|
UTSW |
19 |
44,088,613 (GRCm39) |
missense |
probably null |
0.00 |
|
R4180:Chuk
|
UTSW |
19 |
44,090,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4746:Chuk
|
UTSW |
19 |
44,077,210 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4815:Chuk
|
UTSW |
19 |
44,065,686 (GRCm39) |
nonsense |
probably null |
|
|
R4852:Chuk
|
UTSW |
19 |
44,077,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5330:Chuk
|
UTSW |
19 |
44,067,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Chuk
|
UTSW |
19 |
44,067,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Chuk
|
UTSW |
19 |
44,085,972 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5854:Chuk
|
UTSW |
19 |
44,070,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6149:Chuk
|
UTSW |
19 |
44,090,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Chuk
|
UTSW |
19 |
44,071,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Chuk
|
UTSW |
19 |
44,085,431 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6768:Chuk
|
UTSW |
19 |
44,085,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6865:Chuk
|
UTSW |
19 |
44,075,354 (GRCm39) |
nonsense |
probably null |
|
|
R7916:Chuk
|
UTSW |
19 |
44,085,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Chuk
|
UTSW |
19 |
44,067,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:Chuk
|
UTSW |
19 |
44,071,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Chuk
|
UTSW |
19 |
44,079,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8272:Chuk
|
UTSW |
19 |
44,092,175 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8481:Chuk
|
UTSW |
19 |
44,084,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8739:Chuk
|
UTSW |
19 |
44,077,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8852:Chuk
|
UTSW |
19 |
44,076,407 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8860:Chuk
|
UTSW |
19 |
44,076,407 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9176:Chuk
|
UTSW |
19 |
44,076,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Chuk
|
UTSW |
19 |
44,095,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Chuk
|
UTSW |
19 |
44,085,422 (GRCm39) |
nonsense |
probably null |
|
|
R9380:Chuk
|
UTSW |
19 |
44,062,958 (GRCm39) |
missense |
unknown |
|
|
R9444:Chuk
|
UTSW |
19 |
44,075,385 (GRCm39) |
missense |
|
|
|
R9717:Chuk
|
UTSW |
19 |
44,071,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2012-04-20 |
Incidental Mutation