Incidental Mutation 'IGL00585:Chuk'
| ID |
3173 |
| 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 # |
IGL00585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44066751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 652
(H652R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026217
(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: H652R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: H652R
| 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 |
possibly damaging
Transcript: ENSMUST00000119591
AA Change: H652R
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: H652R
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,519,294 (GRCm39) |
I664F |
probably damaging |
Het |
| Abcg4 |
A |
T |
9: 44,192,920 (GRCm39) |
M142K |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,104,890 (GRCm39) |
T1198A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,239 (GRCm39) |
S475P |
probably damaging |
Het |
| Ap3s2 |
T |
C |
7: 79,565,824 (GRCm39) |
E34G |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,442 (GRCm39) |
F324S |
probably damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,547 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,286,435 (GRCm39) |
V103M |
possibly damaging |
Het |
| Chrnb1 |
G |
A |
11: 69,684,742 (GRCm39) |
P144S |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,170 (GRCm39) |
L1948F |
probably damaging |
Het |
| Clstn1 |
A |
T |
4: 149,722,769 (GRCm39) |
H469L |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,047 (GRCm39) |
G594S |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,184,941 (GRCm39) |
D248E |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,903,771 (GRCm39) |
I276K |
possibly damaging |
Het |
| Gbf1 |
G |
A |
19: 46,272,688 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,748 (GRCm39) |
I433N |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,752,322 (GRCm39) |
E69V |
probably damaging |
Het |
| Gm28177 |
T |
C |
1: 52,121,738 (GRCm39) |
|
probably null |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,506 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
T |
C |
3: 132,806,570 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,026,158 (GRCm39) |
D615G |
probably damaging |
Het |
| Mgme1 |
C |
T |
2: 144,113,909 (GRCm39) |
P4S |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,636,733 (GRCm39) |
A956V |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,882,711 (GRCm39) |
M529K |
possibly damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,890,683 (GRCm39) |
E519V |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,203,726 (GRCm39) |
V333E |
probably damaging |
Het |
| Pik3c3 |
T |
G |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,540,826 (GRCm39) |
C431R |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,087 (GRCm39) |
S206P |
possibly damaging |
Het |
| Rab20 |
A |
G |
8: 11,504,212 (GRCm39) |
Y163H |
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,683,383 (GRCm39) |
C46S |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,943 (GRCm39) |
L784F |
probably damaging |
Het |
| Tnnt1 |
A |
C |
7: 4,510,549 (GRCm39) |
M224R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,178,358 (GRCm39) |
F349L |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,963,895 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,623,905 (GRCm39) |
S651C |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,907,378 (GRCm39) |
*571R |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,646,870 (GRCm39) |
G249E |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,997,428 (GRCm39) |
Y340C |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,383,080 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,079,935 (GRCm39) |
D31E |
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 |
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation