Incidental Mutation 'R5854:Chuk'
ID |
454844 |
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 |
043228-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5854 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44070396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 573
(H573R)
|
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: H573R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: H573R
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: H573R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113809 Gene: ENSMUSG00000025199 AA Change: H573R
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- TCCCTTTTGTTGGGGAGAGA -3'
(R):5'- GGATAATCTCCTAACTCCTCTGTTGA -3'
Sequencing Primer
(F):5'- CTTGGGTTTATCAGAGCAAGCAC -3'
(R):5'- CTCTCTGATCACAAGCCA -3'
|
Posted On |
2017-02-10 |