Incidental Mutation 'R0731:Chuk'
| ID |
67599 |
| 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 |
038912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0731 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 44092205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000026218]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026217
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
| 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: ENSMUST00000026218
|
| SMART Domains |
Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CwfJ_C_1
|
314 |
433 |
5.6e-37 |
PFAM |
|
Pfam:CwfJ_C_2
|
439 |
534 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119591
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,247 (GRCm39) |
R27* |
probably null |
Het |
| Actg1 |
A |
G |
11: 120,237,775 (GRCm39) |
F255S |
probably damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,262 (GRCm39) |
V501E |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,461 (GRCm39) |
D1444E |
probably damaging |
Het |
| Btaf1 |
T |
G |
19: 36,974,895 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
A |
G |
2: 14,990,517 (GRCm39) |
H489R |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,455,139 (GRCm39) |
K398N |
probably damaging |
Het |
| Cd79b |
G |
T |
11: 106,203,259 (GRCm39) |
S145R |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,394,651 (GRCm39) |
N264Y |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,785,798 (GRCm39) |
D2892G |
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,658,409 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
A |
T |
1: 172,000,076 (GRCm39) |
D78V |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,160,071 (GRCm39) |
T87A |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,028 (GRCm39) |
N732D |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,311,289 (GRCm39) |
Y1756F |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,847,055 (GRCm39) |
V858E |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,865,990 (GRCm39) |
F1566S |
probably benign |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,116 (GRCm39) |
I125V |
probably benign |
Het |
| Fuca2 |
C |
T |
10: 13,381,771 (GRCm39) |
P228L |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,989,018 (GRCm39) |
F57L |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,335,449 (GRCm39) |
|
probably benign |
Het |
| Gm16505 |
A |
T |
13: 3,411,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4781 |
T |
C |
10: 100,232,639 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
T |
A |
10: 56,621,639 (GRCm39) |
Y100* |
probably null |
Het |
| Gpr137c |
T |
A |
14: 45,483,806 (GRCm39) |
C178S |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,779,940 (GRCm39) |
R331G |
probably benign |
Het |
| Hlcs |
T |
A |
16: 93,932,711 (GRCm39) |
H851L |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,107 (GRCm39) |
S615G |
probably benign |
Het |
| Kbtbd6 |
C |
A |
14: 79,689,324 (GRCm39) |
Y6* |
probably null |
Het |
| Kif23 |
T |
C |
9: 61,832,314 (GRCm39) |
R610G |
possibly damaging |
Het |
| Kifc3 |
G |
A |
8: 95,832,361 (GRCm39) |
T487I |
probably damaging |
Het |
| Klra5 |
A |
C |
6: 129,885,759 (GRCm39) |
D133E |
possibly damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,668 (GRCm39) |
E100G |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,562,531 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,049,069 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,228,167 (GRCm39) |
I146V |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,038 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,233,965 (GRCm39) |
S178P |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,476,262 (GRCm39) |
|
probably null |
Het |
| Mgat4f |
A |
C |
1: 134,317,713 (GRCm39) |
M162L |
probably benign |
Het |
| Mkrn2 |
A |
T |
6: 115,591,612 (GRCm39) |
N312Y |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,093,359 (GRCm39) |
E150G |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,094,878 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
A |
G |
5: 137,733,560 (GRCm39) |
V491A |
probably damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,740 (GRCm39) |
N24K |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,638 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,941 (GRCm39) |
I176M |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,372,828 (GRCm39) |
F34L |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,240,893 (GRCm38) |
H385Q |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,892,590 (GRCm39) |
S242P |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,017,744 (GRCm39) |
Y675C |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,390,700 (GRCm39) |
H266Q |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,983,479 (GRCm39) |
S141P |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,518 (GRCm39) |
T214A |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,864,627 (GRCm39) |
E219V |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,422,065 (GRCm39) |
T66A |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,847,623 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,964,165 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
G |
T |
2: 127,068,065 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Tacr3 |
G |
A |
3: 134,560,761 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
C |
T |
18: 42,704,905 (GRCm39) |
T978M |
probably damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,252 (GRCm39) |
P126Q |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,556 (GRCm39) |
D860G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,301 (GRCm39) |
L81P |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,476 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
G |
A |
5: 87,568,311 (GRCm39) |
A328V |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,096,991 (GRCm39) |
R444S |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,246,537 (GRCm39) |
T875A |
probably benign |
Het |
| Zfp11 |
A |
G |
5: 129,734,328 (GRCm39) |
S378P |
probably damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,689 (GRCm39) |
N54I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGTAGAACTGAAGAACCTAAGTCC -3'
(R):5'- CCGTGCCATTTGAAATGTAAAGGTTGG -3'
Sequencing Primer
(F):5'- ATTTCATGGCACCATCGCTC -3'
(R):5'- ACGTTGGCTAAAGAGAGCTGTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation