Incidental Mutation 'R1433:Chuk'
ID |
159351 |
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 |
039488-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1433 (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 44067397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 586
(M586K)
|
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: M586K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: M586K
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: M586K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: M586K
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: ENSMUST00000123806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134495
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149091
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
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 |
Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
Camk2d |
T |
C |
3: 126,601,873 (GRCm39) |
V354A |
probably benign |
Het |
Carf |
T |
G |
1: 60,164,017 (GRCm39) |
M43R |
probably damaging |
Het |
Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
Serpinc1 |
A |
T |
1: 160,820,974 (GRCm39) |
K140N |
probably damaging |
Het |
Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly damaging |
Het |
Zfp335 |
T |
C |
2: 164,741,376 (GRCm39) |
H685R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGATGGCCTCAAAAGCAGTGAATG -3'
(R):5'- AGCAGTGCCACACTTCAAGGAC -3'
Sequencing Primer
(F):5'- cccagcaccagtcacatc -3'
(R):5'- ACAGTGTTCTTCAGCAAAAGG -3'
|
Posted On |
2014-03-14 |