Incidental Mutation 'IGL01728:Chuk'
| ID |
105364 |
| 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 # |
IGL01728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44087085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 138
(N138S)
|
| 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: N138S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: N138S
| 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 |
probably benign
Transcript: ENSMUST00000119591
AA Change: N138S
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: N138S
| 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: ENSMUST00000146861
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,029,074 (GRCm39) |
I71T |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,759,092 (GRCm39) |
M1T |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,751,992 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,289 (GRCm39) |
|
probably null |
Het |
| Dock7 |
G |
A |
4: 98,850,568 (GRCm39) |
T1588M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,051,115 (GRCm39) |
T479I |
probably damaging |
Het |
| Gpn2 |
T |
C |
4: 133,311,813 (GRCm39) |
I15T |
possibly damaging |
Het |
| H3c2 |
G |
A |
13: 23,936,712 (GRCm39) |
R117H |
probably benign |
Het |
| Haao |
A |
G |
17: 84,142,658 (GRCm39) |
F149S |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,389,623 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,373,149 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,837,783 (GRCm39) |
S1199I |
probably damaging |
Het |
| Mageb3 |
G |
T |
2: 121,784,941 (GRCm39) |
P254T |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,302 (GRCm39) |
P1300S |
probably damaging |
Het |
| Mtfmt |
T |
A |
9: 65,343,100 (GRCm39) |
L2H |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,668,682 (GRCm39) |
G181W |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,785,654 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,378,162 (GRCm39) |
L280Q |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,760,736 (GRCm39) |
|
probably null |
Het |
| Or51k2 |
T |
C |
7: 103,595,959 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,391 (GRCm39) |
M136V |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,677,805 (GRCm39) |
V721A |
probably damaging |
Het |
| Pbp2 |
G |
T |
6: 135,287,073 (GRCm39) |
N91K |
probably damaging |
Het |
| Pde7b |
C |
A |
10: 20,310,210 (GRCm39) |
|
probably null |
Het |
| Pramel7 |
C |
A |
2: 87,321,674 (GRCm39) |
E120D |
possibly damaging |
Het |
| Rbbp5 |
C |
T |
1: 132,425,818 (GRCm39) |
T516M |
probably benign |
Het |
| Slc16a12 |
A |
G |
19: 34,668,071 (GRCm39) |
V28A |
possibly damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,721,802 (GRCm39) |
F276S |
probably damaging |
Het |
| Spata9 |
A |
T |
13: 76,141,193 (GRCm39) |
I147L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,545,271 (GRCm39) |
Y2429F |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,312,564 (GRCm39) |
S212P |
probably benign |
Het |
| Unc5cl |
A |
T |
17: 48,766,991 (GRCm39) |
I122F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,131,943 (GRCm39) |
F2350I |
probably damaging |
Het |
|
| Other mutations in Chuk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Chuk
|
APN |
19 |
44,076,462 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation