Incidental Mutation 'IGL01419:Chuk'
| ID |
80303 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44085420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 242
(I242K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026217
AA Change: I242K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: I242K
| 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 damaging
Transcript: ENSMUST00000119591
AA Change: I242K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: I242K
| 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: ENSMUST00000146861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147423
|
| Coding Region Coverage |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
T |
2: 25,327,526 (GRCm39) |
T672S |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,321 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,354 (GRCm39) |
R584G |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,251 (GRCm39) |
I1218F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,865,233 (GRCm39) |
S52P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,192,351 (GRCm39) |
S462P |
possibly damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,040 (GRCm39) |
H202R |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,102,270 (GRCm39) |
S1323P |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,667,382 (GRCm39) |
|
probably null |
Het |
| Csde1 |
A |
G |
3: 102,946,086 (GRCm39) |
T27A |
probably damaging |
Het |
| D930048N14Rik |
C |
T |
11: 51,545,603 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
A |
T |
2: 104,552,455 (GRCm39) |
Y451N |
possibly damaging |
Het |
| Diaph3 |
C |
A |
14: 87,202,989 (GRCm39) |
G623* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,317,371 (GRCm39) |
T435A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,096,816 (GRCm39) |
S575G |
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,210,790 (GRCm39) |
Y407F |
probably benign |
Het |
| Fzd4 |
C |
A |
7: 89,056,943 (GRCm39) |
A330E |
probably damaging |
Het |
| Gm17415 |
A |
G |
1: 93,349,672 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
C |
T |
9: 107,556,633 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,725,081 (GRCm39) |
Y76C |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,103,939 (GRCm39) |
H1079Y |
probably benign |
Het |
| Helz |
T |
G |
11: 107,577,340 (GRCm39) |
I1897S |
unknown |
Het |
| Hspa12a |
T |
C |
19: 58,816,681 (GRCm39) |
|
probably null |
Het |
| Kcne1 |
G |
T |
16: 92,145,534 (GRCm39) |
F103L |
probably benign |
Het |
| Lrrc20 |
A |
T |
10: 61,383,874 (GRCm39) |
S94C |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,147,111 (GRCm39) |
T642A |
probably benign |
Het |
| Ly6g5b |
A |
G |
17: 35,333,494 (GRCm39) |
L106P |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,423 (GRCm39) |
S698G |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,900 (GRCm39) |
V334A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,116,545 (GRCm39) |
Y964* |
probably null |
Het |
| Or4c123 |
T |
C |
2: 89,126,689 (GRCm39) |
|
probably benign |
Het |
| Or8k3 |
A |
T |
2: 86,058,973 (GRCm39) |
I114N |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,588 (GRCm39) |
F497L |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,825,589 (GRCm39) |
M343V |
possibly damaging |
Het |
| Phactr3 |
C |
T |
2: 177,920,855 (GRCm39) |
T231I |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,890,980 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,489,351 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
G |
T |
4: 142,860,218 (GRCm39) |
P1024H |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,448 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,653,030 (GRCm39) |
P3835Q |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,353 (GRCm39) |
T87A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,814,723 (GRCm39) |
E683V |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,528 (GRCm39) |
L214P |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,985,835 (GRCm39) |
S250G |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,281 (GRCm39) |
D498E |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,154,894 (GRCm39) |
D1410G |
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,517,759 (GRCm39) |
Y79* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,333,295 (GRCm39) |
D857G |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,498 (GRCm39) |
N432S |
probably damaging |
Het |
| Tubg2 |
C |
A |
11: 101,049,883 (GRCm39) |
D176E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,039,264 (GRCm39) |
W466R |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,118 (GRCm39) |
M692K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,807 (GRCm39) |
K143E |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,000 (GRCm39) |
L635F |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,267 (GRCm39) |
|
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,910 (GRCm39) |
M689K |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,325 (GRCm39) |
Y79H |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,186 (GRCm39) |
F224L |
probably benign |
Het |
| Zfp493 |
T |
G |
13: 67,934,921 (GRCm39) |
I291M |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation