Incidental Mutation 'R6232:Chuk'
| ID |
504715 |
| 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 |
044360-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44085431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 238
(D238E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000119591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026217
AA Change: D238E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: D238E
| 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: ENSMUST00000119591
AA Change: D238E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: D238E
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
94% (64/68) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,268,933 (GRCm39) |
V198A |
possibly damaging |
Het |
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,609,193 (GRCm39) |
M805L |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,620,712 (GRCm39) |
S630G |
probably damaging |
Het |
| Bcl3 |
T |
A |
7: 19,546,409 (GRCm39) |
N142I |
probably damaging |
Het |
| Cfap210 |
C |
T |
2: 69,602,398 (GRCm39) |
E338K |
possibly damaging |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,427 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dst |
T |
A |
1: 34,227,253 (GRCm39) |
D1290E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,075,235 (GRCm39) |
I583T |
probably benign |
Het |
| Eif1ad13 |
A |
T |
12: 87,762,351 (GRCm39) |
R24* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,815,516 (GRCm39) |
D249V |
probably damaging |
Het |
| Fbxo30 |
A |
T |
10: 11,165,602 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Fibin |
G |
T |
2: 110,193,041 (GRCm39) |
H34N |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,161,632 (GRCm39) |
I319V |
probably benign |
Het |
| Gfm1 |
G |
T |
3: 67,375,215 (GRCm39) |
L559F |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,821,859 (GRCm39) |
L231Q |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,638 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,183,657 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,813 (GRCm39) |
Q281R |
probably damaging |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,486,345 (GRCm39) |
R38Q |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,671,588 (GRCm39) |
|
probably null |
Het |
| Map3k12 |
A |
G |
15: 102,412,081 (GRCm39) |
S328P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,356 (GRCm39) |
V46A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,568,294 (GRCm39) |
N1408K |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,226,753 (GRCm39) |
Q366L |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,467,802 (GRCm39) |
V462A |
probably damaging |
Het |
| Nradd |
G |
T |
9: 110,450,655 (GRCm39) |
T174N |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,138,963 (GRCm39) |
S12P |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,943,337 (GRCm39) |
E4832* |
probably null |
Het |
| Opn3 |
G |
A |
1: 175,490,669 (GRCm39) |
R331W |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,761 (GRCm39) |
C127S |
probably damaging |
Het |
| Or2w3 |
T |
A |
11: 58,556,757 (GRCm39) |
V124E |
possibly damaging |
Het |
| Or4a66 |
G |
T |
2: 88,531,161 (GRCm39) |
H171N |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,389,661 (GRCm39) |
H262L |
probably damaging |
Het |
| Or5b120 |
G |
A |
19: 13,480,427 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,408,305 (GRCm39) |
I13V |
probably benign |
Het |
| Phip |
A |
G |
9: 82,785,234 (GRCm39) |
V827A |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,607,414 (GRCm39) |
R1264W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,424,014 (GRCm39) |
I529S |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,814,599 (GRCm39) |
I241F |
probably benign |
Het |
| Pla2g4f |
G |
T |
2: 120,132,702 (GRCm39) |
D711E |
possibly damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,266 (GRCm39) |
|
probably null |
Het |
| Pold2 |
T |
C |
11: 5,823,691 (GRCm39) |
S287G |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,567 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
T |
C |
13: 27,759,557 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rfc4 |
C |
T |
16: 22,932,840 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph14 |
G |
A |
10: 74,797,520 (GRCm39) |
R156W |
probably benign |
Het |
| Sec61a1 |
T |
C |
6: 88,482,150 (GRCm39) |
Y457C |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,704,861 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,244,333 (GRCm39) |
E234G |
unknown |
Het |
| Sphkap |
T |
A |
1: 83,258,200 (GRCm39) |
E181V |
probably damaging |
Het |
| Stau2 |
C |
T |
1: 16,445,035 (GRCm39) |
A298T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,990,796 (GRCm39) |
I661V |
probably benign |
Het |
| Thoc6 |
A |
C |
17: 23,889,295 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
A |
11: 73,141,636 (GRCm39) |
M553K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,579 (GRCm39) |
I11760V |
probably benign |
Het |
| Vmn1r61 |
G |
A |
7: 5,613,850 (GRCm39) |
H155Y |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,153,214 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,498 (GRCm39) |
I75T |
possibly damaging |
Het |
| Wwp2 |
C |
A |
8: 108,232,977 (GRCm39) |
T205K |
probably benign |
Het |
| Zfp1003 |
A |
T |
2: 177,546,195 (GRCm39) |
T40S |
probably benign |
Het |
| Zfp747 |
C |
T |
7: 126,973,306 (GRCm39) |
G288D |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
| Zfp953 |
G |
A |
13: 67,491,161 (GRCm39) |
L264F |
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 |
|
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 |
|
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'- ACGGACAGACAGGGTTTCAC -3'
(R):5'- TCTGCAGCCATTTACCTGG -3'
Sequencing Primer
(F):5'- ACCCTCATGATAAGGTCTACTGG -3'
(R):5'- GCAGCCATTTACCTGGTAAGAAATG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation