Incidental Mutation 'R8852:Chuk'
ID |
675090 |
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 |
068674-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8852 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44076407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 435
(S435P)
|
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: S435P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: S435P
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: S435P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: S435P
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: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (53/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,763,989 (GRCm39) |
V1304L |
possibly damaging |
Het |
Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
Arvcf |
C |
A |
16: 18,222,203 (GRCm39) |
D790E |
probably benign |
Het |
Atp8a2 |
A |
C |
14: 60,162,545 (GRCm39) |
D725E |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
Camkk2 |
T |
C |
5: 122,891,820 (GRCm39) |
Y234C |
probably damaging |
Het |
Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
Ccm2l |
T |
C |
2: 152,916,788 (GRCm39) |
Y340H |
probably damaging |
Het |
Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,215,620 (GRCm39) |
D718G |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
Dcpp3 |
G |
T |
17: 24,138,123 (GRCm39) |
E94* |
probably null |
Het |
Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
Dmbt1 |
T |
C |
7: 130,642,853 (GRCm39) |
Y120H |
unknown |
Het |
Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
Gsx2 |
T |
C |
5: 75,236,996 (GRCm39) |
M192T |
possibly damaging |
Het |
Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
Irf5 |
G |
A |
6: 29,535,997 (GRCm39) |
R337H |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,526,624 (GRCm39) |
V189A |
possibly damaging |
Het |
Letmd1 |
A |
G |
15: 100,373,247 (GRCm39) |
T241A |
probably benign |
Het |
Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
Muc4 |
A |
G |
16: 32,569,461 (GRCm39) |
T236A |
possibly damaging |
Het |
Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
Or5v1 |
G |
A |
17: 37,810,321 (GRCm39) |
V260M |
probably benign |
Het |
Otof |
T |
C |
5: 30,529,044 (GRCm39) |
N1788S |
possibly damaging |
Het |
Psapl1 |
T |
C |
5: 36,362,314 (GRCm39) |
L302S |
probably damaging |
Het |
Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,624,844 (GRCm39) |
E2212G |
probably damaging |
Het |
Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
Slc22a17 |
A |
T |
14: 55,146,436 (GRCm39) |
L60Q |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,060,349 (GRCm39) |
I531T |
probably damaging |
Het |
Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
Tars1 |
G |
T |
15: 11,393,348 (GRCm39) |
N115K |
probably benign |
Het |
Tomm6 |
G |
C |
17: 47,998,850 (GRCm39) |
F34L |
possibly damaging |
Het |
Txnrd2 |
G |
A |
16: 18,259,601 (GRCm39) |
V173M |
possibly damaging |
Het |
Uba6 |
T |
A |
5: 86,289,454 (GRCm39) |
I450F |
possibly damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,664,113 (GRCm39) |
S516I |
possibly damaging |
Het |
Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 14,072,150 (GRCm39) |
D30G |
probably benign |
Het |
Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
possibly 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 |
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 |
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'- AGTCATTACAGCTGAGTGATTTTAC -3'
(R):5'- GCCCTTACAGCTAGTCAGGTA -3'
Sequencing Primer
(F):5'- GCTAGTCAGTCTAACTCAGTGAGC -3'
(R):5'- CTTACAGCTAGTCAGGTAGTAAATTC -3'
|
Posted On |
2021-07-15 |