Incidental Mutation 'IGL01753:Chuk'
| ID |
153167 |
| 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 # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44087015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026217
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
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 |
|
IGL01728:Chuk
|
APN |
19 |
44,087,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2014-02-04 |
Incidental Mutation