Incidental Mutation 'R6149:Chuk'
ID |
489111 |
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 |
044296-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6149 (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 G
at 44090270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
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: V74A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: V74A
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: V74A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: V74A
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 |
0.6061 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
99% (69/70) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
T |
A |
1: 161,777,211 (GRCm39) |
R115S |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,752,018 (GRCm39) |
K589E |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,330,893 (GRCm39) |
L74Q |
probably damaging |
Het |
Avil |
A |
G |
10: 126,842,451 (GRCm39) |
I77V |
probably benign |
Het |
Best2 |
T |
C |
8: 85,739,896 (GRCm39) |
E57G |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,516,098 (GRCm39) |
I578K |
probably damaging |
Het |
Chsy1 |
A |
G |
7: 65,775,133 (GRCm39) |
Y154C |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,638,248 (GRCm39) |
S49G |
probably damaging |
Het |
Crtac1 |
A |
G |
19: 42,272,048 (GRCm39) |
Y632H |
unknown |
Het |
Ern1 |
C |
A |
11: 106,296,641 (GRCm39) |
E770* |
probably null |
Het |
Fam114a2 |
A |
C |
11: 57,378,415 (GRCm39) |
V450G |
probably benign |
Het |
Fgf15 |
C |
T |
7: 144,453,506 (GRCm39) |
Q125* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,458,762 (GRCm39) |
S2036T |
probably damaging |
Het |
Fxr2 |
G |
A |
11: 69,540,030 (GRCm39) |
V296I |
probably benign |
Het |
Gm15264 |
C |
A |
3: 94,640,736 (GRCm39) |
|
noncoding transcript |
Het |
Ifi213 |
A |
T |
1: 173,421,581 (GRCm39) |
S103T |
probably benign |
Het |
Igkv5-37 |
T |
A |
6: 69,940,472 (GRCm39) |
Q57H |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,530,969 (GRCm39) |
Y435C |
probably damaging |
Het |
Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,573,641 (GRCm39) |
W799R |
probably damaging |
Het |
Lnp1 |
C |
T |
16: 56,737,735 (GRCm39) |
E118K |
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,643 (GRCm39) |
K243Q |
possibly damaging |
Het |
Lrp1b |
G |
T |
2: 40,765,165 (GRCm39) |
|
probably null |
Het |
Lvrn |
G |
A |
18: 47,017,499 (GRCm39) |
V610I |
probably benign |
Het |
Med1 |
T |
C |
11: 98,074,679 (GRCm39) |
K67R |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,990,291 (GRCm39) |
S278P |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,377,885 (GRCm39) |
V35A |
possibly damaging |
Het |
Nynrin |
A |
T |
14: 56,091,780 (GRCm39) |
Q32L |
possibly damaging |
Het |
Oog1 |
C |
T |
12: 87,653,043 (GRCm39) |
T113I |
possibly damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,628 (GRCm39) |
L139P |
probably damaging |
Het |
Or10j3 |
G |
T |
1: 173,031,582 (GRCm39) |
V220F |
probably benign |
Het |
Or4x11 |
C |
T |
2: 89,867,860 (GRCm39) |
A199V |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,723 (GRCm39) |
I195F |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,807 (GRCm39) |
I87V |
probably benign |
Het |
Otogl |
C |
T |
10: 107,717,314 (GRCm39) |
V386I |
probably benign |
Het |
Patj |
A |
G |
4: 98,312,562 (GRCm39) |
N300S |
possibly damaging |
Het |
Pcdhb16 |
T |
A |
18: 37,612,208 (GRCm39) |
D389E |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,488,939 (GRCm39) |
I699V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,882,771 (GRCm39) |
V790A |
probably benign |
Het |
Plppr4 |
A |
T |
3: 117,116,043 (GRCm39) |
C605S |
probably benign |
Het |
Ppl |
G |
A |
16: 4,925,460 (GRCm39) |
Q60* |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,586,810 (GRCm39) |
K52R |
possibly damaging |
Het |
Pramel29 |
A |
G |
4: 143,933,983 (GRCm39) |
S375P |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Rpe65 |
G |
A |
3: 159,319,780 (GRCm39) |
E217K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,892 (GRCm39) |
I560T |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,683,903 (GRCm39) |
S3054G |
probably benign |
Het |
Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,046,666 (GRCm39) |
W293R |
probably damaging |
Het |
Sik1 |
A |
T |
17: 32,067,771 (GRCm39) |
S435T |
possibly damaging |
Het |
Slc2a12 |
G |
T |
10: 22,540,401 (GRCm39) |
M85I |
probably benign |
Het |
Stk36 |
T |
C |
1: 74,673,388 (GRCm39) |
S1094P |
probably benign |
Het |
Tctn1 |
A |
T |
5: 122,384,649 (GRCm39) |
Y393N |
probably benign |
Het |
Tex9 |
C |
T |
9: 72,369,282 (GRCm39) |
|
probably null |
Het |
Thbs2 |
A |
G |
17: 14,899,942 (GRCm39) |
|
probably null |
Het |
Tmprss7 |
A |
T |
16: 45,494,268 (GRCm39) |
C412* |
probably null |
Het |
Tpp1 |
T |
C |
7: 105,396,934 (GRCm39) |
T399A |
probably benign |
Het |
Trim25 |
T |
A |
11: 88,906,362 (GRCm39) |
V387D |
probably benign |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
Vill |
T |
G |
9: 118,887,482 (GRCm39) |
V82G |
possibly damaging |
Het |
Vmn1r189 |
T |
C |
13: 22,286,054 (GRCm39) |
D261G |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r111 |
G |
A |
17: 22,767,796 (GRCm39) |
T567I |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,786,400 (GRCm39) |
Y401C |
probably damaging |
Het |
Zc3h11a |
G |
A |
1: 133,566,613 (GRCm39) |
R69* |
probably null |
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 |
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'- GGACCGTATCACATGTGACTCAG -3'
(R):5'- CAGAAATGTGGTCATAACAGTGATG -3'
Sequencing Primer
(F):5'- GTGACTCAGAAACGGCTAATGTTTG -3'
(R):5'- TGGTCATAACAGTGATGGTATTTTTC -3'
|
Posted On |
2017-10-10 |