Incidental Mutation 'R6865:Chuk'
| ID |
535892 |
| 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 |
045027-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6865 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 44075354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 500
(Y500*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026217
AA Change: Y500*
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: Y500*
| 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 null
Transcript: ENSMUST00000119591
AA Change: Y500*
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: Y500*
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
| Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
| Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
| Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
| Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
| Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
| Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
| Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
| Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
| Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
| Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
| Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
| Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
| Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
| Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
|
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 |
|
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'- TAAGGAATGAAATGAGCTAACCCTC -3'
(R):5'- AGGCCAGCTAGTTCTCTGAATTG -3'
Sequencing Primer
(F):5'- GAATGAAATGAGCTAACCCTCAAAAC -3'
(R):5'- AAATTTAGGTTCTGGAGTTTGGATAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation