Incidental Mutation 'R4746:Chuk'
ID |
356764 |
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 |
041968-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4746 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44077210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 379
(C379S)
|
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: C379S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: C379S
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: C379S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: C379S
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
G |
A |
2: 152,282,685 (GRCm39) |
S180N |
probably benign |
Het |
Atp5f1a |
G |
T |
18: 77,866,442 (GRCm39) |
G165V |
probably benign |
Het |
Cbfa2t2 |
A |
C |
2: 154,365,845 (GRCm39) |
M352L |
possibly damaging |
Het |
Ccser2 |
A |
T |
14: 36,631,082 (GRCm39) |
D98E |
probably damaging |
Het |
Cfap20 |
A |
G |
8: 96,148,684 (GRCm39) |
|
probably null |
Het |
Cic |
G |
A |
7: 24,987,905 (GRCm39) |
G1531E |
probably damaging |
Het |
Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
Cxcl13 |
A |
G |
5: 96,107,756 (GRCm39) |
K71E |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,359,080 (GRCm39) |
I210N |
probably benign |
Het |
Donson |
A |
C |
16: 91,479,125 (GRCm39) |
V397G |
probably damaging |
Het |
Dpy19l1 |
C |
A |
9: 24,361,966 (GRCm39) |
V332L |
probably benign |
Het |
Dsp |
T |
C |
13: 38,379,080 (GRCm39) |
S1343P |
possibly damaging |
Het |
Egflam |
A |
G |
15: 7,254,120 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
C |
A |
4: 155,627,531 (GRCm39) |
A104E |
probably damaging |
Het |
Gnptg |
ATTGTTGATGATTT |
AT |
17: 25,454,571 (GRCm39) |
|
probably benign |
Het |
Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,664,308 (GRCm39) |
D50V |
probably benign |
Het |
Irs3 |
A |
G |
5: 137,642,209 (GRCm39) |
S410P |
probably benign |
Het |
Kif26b |
C |
T |
1: 178,701,546 (GRCm39) |
Q642* |
probably null |
Het |
Klhl11 |
A |
T |
11: 100,355,176 (GRCm39) |
M215K |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,795,626 (GRCm39) |
N337S |
possibly damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,514 (GRCm39) |
A170V |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,909,144 (GRCm39) |
W214R |
probably damaging |
Het |
Megf11 |
A |
C |
9: 64,416,027 (GRCm39) |
T79P |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,126,663 (GRCm39) |
V26A |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,195,955 (GRCm39) |
F353S |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,970,634 (GRCm39) |
|
probably null |
Het |
Ocstamp |
T |
C |
2: 165,238,208 (GRCm39) |
K352R |
probably benign |
Het |
Or2t35 |
A |
T |
14: 14,407,359 (GRCm38) |
I46F |
probably benign |
Het |
Or8b12 |
G |
T |
9: 37,657,453 (GRCm39) |
V8L |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,305,654 (GRCm39) |
N434S |
probably damaging |
Het |
Pign |
A |
C |
1: 105,512,749 (GRCm39) |
L645V |
probably benign |
Het |
Polr1has |
A |
T |
17: 37,275,765 (GRCm39) |
I116L |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,626,500 (GRCm39) |
S1540P |
probably benign |
Het |
Ppp2r3c |
A |
T |
12: 55,349,420 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,082,236 (GRCm39) |
V414A |
possibly damaging |
Het |
Pyroxd2 |
G |
A |
19: 42,740,839 (GRCm39) |
R22* |
probably null |
Het |
Rab11fip2 |
G |
A |
19: 59,925,542 (GRCm39) |
A225V |
probably damaging |
Het |
Ranbp2 |
C |
T |
10: 58,328,492 (GRCm39) |
A2836V |
probably damaging |
Het |
Rimklb |
G |
A |
6: 122,449,591 (GRCm39) |
R28* |
probably null |
Het |
Scyl3 |
G |
A |
1: 163,776,820 (GRCm39) |
R404Q |
probably damaging |
Het |
Slc9a8 |
A |
T |
2: 167,283,090 (GRCm39) |
K79* |
probably null |
Het |
Sowaha |
A |
T |
11: 53,370,163 (GRCm39) |
|
probably null |
Het |
Tnk1 |
A |
G |
11: 69,745,992 (GRCm39) |
V311A |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,789,220 (GRCm39) |
S1680T |
probably damaging |
Het |
Tpp1 |
T |
C |
7: 105,398,158 (GRCm39) |
Y335C |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,162,340 (GRCm39) |
V308A |
probably benign |
Het |
Ttll3 |
A |
C |
6: 113,384,353 (GRCm39) |
Q557P |
probably damaging |
Het |
Ulk3 |
G |
A |
9: 57,500,201 (GRCm39) |
A266T |
probably benign |
Het |
Wfdc6b |
C |
A |
2: 164,459,353 (GRCm39) |
C138* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGGGAAGGGAGGTCTTCTA -3'
(R):5'- TCACTTTGGCCAATGTATCTGT -3'
Sequencing Primer
(F):5'- GGAGCTATGGTGATTTAAATCCACC -3'
(R):5'- TTTTTCCCCTAAAGTAAACCTTAGGC -3'
|
Posted On |
2015-11-11 |