Incidental Mutation 'R8481:Chuk'
ID |
657550 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
067925-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8481 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44084678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 306
(H306Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026217
AA Change: H306Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: H306Q
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: H306Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: H306Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (45/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,398,381 (GRCm39) |
Y380* |
probably null |
Het |
Apob |
T |
A |
12: 8,044,807 (GRCm39) |
|
probably null |
Het |
Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,004,882 (GRCm39) |
D598G |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,111,399 (GRCm39) |
V551A |
probably benign |
Het |
Ccdc88b |
A |
T |
19: 6,831,900 (GRCm39) |
L427Q |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,412,569 (GRCm39) |
V301A |
probably benign |
Het |
Cryzl1 |
C |
A |
16: 91,504,161 (GRCm39) |
E69* |
probably null |
Het |
Cul5 |
A |
T |
9: 53,558,123 (GRCm39) |
D160E |
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,575,753 (GRCm39) |
M2954V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,419,941 (GRCm39) |
D3746E |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,230,490 (GRCm39) |
V108A |
probably benign |
Het |
Dpp9 |
C |
A |
17: 56,501,467 (GRCm39) |
D582Y |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,288 (GRCm39) |
|
probably benign |
Het |
Got2 |
T |
A |
8: 96,615,152 (GRCm39) |
|
probably benign |
Het |
Gria2 |
A |
T |
3: 80,708,998 (GRCm39) |
H61Q |
possibly damaging |
Het |
Hnrnpa2b1 |
C |
T |
6: 51,444,391 (GRCm39) |
V8I |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,072,629 (GRCm39) |
I354V |
possibly damaging |
Het |
Letm2 |
T |
C |
8: 26,070,375 (GRCm39) |
K421R |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,404,779 (GRCm39) |
D1974G |
probably damaging |
Het |
Magi2 |
A |
T |
5: 20,594,152 (GRCm39) |
E5D |
possibly damaging |
Het |
Mprip |
T |
A |
11: 59,648,982 (GRCm39) |
Y895* |
probably null |
Het |
Myo5c |
T |
C |
9: 75,208,726 (GRCm39) |
F1679S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,114,597 (GRCm39) |
K4221E |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,685,991 (GRCm39) |
Y308C |
probably damaging |
Het |
Nrsn1 |
T |
C |
13: 25,437,598 (GRCm39) |
N110S |
probably damaging |
Het |
Or11a4 |
T |
A |
17: 37,536,295 (GRCm39) |
I93K |
probably damaging |
Het |
Or4k40 |
T |
A |
2: 111,250,994 (GRCm39) |
I101F |
possibly damaging |
Het |
Padi2 |
A |
G |
4: 140,660,564 (GRCm39) |
Q348R |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,198,814 (GRCm39) |
T324I |
probably benign |
Het |
Pon3 |
C |
T |
6: 5,221,715 (GRCm39) |
R305H |
probably benign |
Het |
Prlhr |
A |
G |
19: 60,456,125 (GRCm39) |
V147A |
possibly damaging |
Het |
Ptpn21 |
T |
C |
12: 98,655,153 (GRCm39) |
T605A |
probably benign |
Het |
Rabep1 |
T |
C |
11: 70,777,953 (GRCm39) |
S162P |
probably damaging |
Het |
Rgs7bp |
A |
G |
13: 105,190,716 (GRCm39) |
S3P |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,147,073 (GRCm39) |
L677H |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,275,958 (GRCm39) |
R263G |
probably damaging |
Het |
Slu7 |
C |
A |
11: 43,328,320 (GRCm39) |
L45M |
probably damaging |
Het |
Slu7 |
T |
A |
11: 43,328,321 (GRCm39) |
L45Q |
probably damaging |
Het |
Sp140 |
A |
G |
1: 85,569,512 (GRCm39) |
D374G |
probably damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Tex36 |
A |
T |
7: 133,189,189 (GRCm39) |
S128T |
probably damaging |
Het |
Tpbg |
T |
C |
9: 85,726,138 (GRCm39) |
S36P |
unknown |
Het |
Tubgcp2 |
C |
A |
7: 139,613,588 (GRCm39) |
D30Y |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,932 (GRCm39) |
S162P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCCAGAGTTCAGAAATAGCTAG -3'
(R):5'- GTCATGGCAAGACAATGGAC -3'
Sequencing Primer
(F):5'- AGCTAGAAAGGTTGAGTTTTTCAGC -3'
(R):5'- GACAATGGACAACCTATAAAGTTGTC -3'
|
Posted On |
2021-01-18 |