Incidental Mutation 'PIT4382001:Chuk'
| ID |
554731 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4382001 (G1)
|
| Quality Score |
133.008 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44087046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
| 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: V151A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: V151A
| 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: V151A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: V151A
| 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 |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.5%
- 10x: 84.6%
- 20x: 72.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
G |
T |
7: 136,978,711 (GRCm39) |
H144N |
unknown |
Het |
| Acsm4 |
C |
T |
7: 119,297,798 (GRCm39) |
T145M |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,673,363 (GRCm39) |
L498P |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
| Alk |
T |
C |
17: 72,256,916 (GRCm39) |
M648V |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,794 (GRCm39) |
R424G |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,480 (GRCm39) |
K342E |
possibly damaging |
Het |
| Ccdc54 |
C |
T |
16: 50,411,219 (GRCm39) |
V16M |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,055,975 (GRCm39) |
D366A |
probably damaging |
Het |
| Cpd |
T |
G |
11: 76,688,614 (GRCm39) |
H886P |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,222,449 (GRCm39) |
C736* |
probably null |
Het |
| Creb3l3 |
T |
C |
10: 80,920,746 (GRCm39) |
E428G |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,085 (GRCm39) |
L7F |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,006,412 (GRCm39) |
D2255N |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,728,508 (GRCm39) |
Y159H |
probably damaging |
Het |
| Dpysl4 |
T |
A |
7: 138,669,494 (GRCm39) |
Y57* |
probably null |
Het |
| F2rl1 |
T |
G |
13: 95,650,154 (GRCm39) |
N243H |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,293 (GRCm39) |
K163E |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,944,193 (GRCm39) |
S46P |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,821,196 (GRCm39) |
T5643K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,382,521 (GRCm39) |
Y542N |
possibly damaging |
Het |
| Il17re |
A |
G |
6: 113,446,038 (GRCm39) |
T426A |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,393,201 (GRCm39) |
M385L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,140 (GRCm39) |
S744P |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,881,048 (GRCm39) |
Y26* |
probably null |
Het |
| Lama2 |
T |
C |
10: 27,080,901 (GRCm39) |
D974G |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,112,954 (GRCm39) |
N147K |
possibly damaging |
Het |
| Lipo5 |
A |
T |
19: 33,443,339 (GRCm39) |
L159Q |
probably null |
Het |
| LTO1 |
T |
A |
7: 144,470,181 (GRCm39) |
Y37N |
probably damaging |
Het |
| Mau2 |
C |
T |
8: 70,483,302 (GRCm39) |
E187K |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,136 (GRCm39) |
L236P |
probably benign |
Het |
| Mta1 |
A |
G |
12: 113,096,870 (GRCm39) |
T564A |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,696,012 (GRCm39) |
S249L |
probably damaging |
Het |
| Ncor1 |
G |
T |
11: 62,235,489 (GRCm39) |
T331K |
probably damaging |
Het |
| Nsun3 |
T |
A |
16: 62,606,228 (GRCm39) |
K15N |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,400,355 (GRCm39) |
Y132C |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,464,607 (GRCm39) |
T1605S |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,493,309 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or51f1 |
A |
G |
7: 102,505,809 (GRCm39) |
Y227H |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,598,656 (GRCm39) |
Y328F |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,259 (GRCm39) |
I215T |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,026 (GRCm39) |
N148D |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,787,107 (GRCm39) |
S1232T |
probably damaging |
Het |
| Polr3b |
C |
A |
10: 84,520,049 (GRCm39) |
T655N |
probably damaging |
Het |
| Prss34 |
T |
C |
17: 25,517,882 (GRCm39) |
|
probably null |
Het |
| Rhpn2 |
A |
G |
7: 35,090,178 (GRCm39) |
|
probably null |
Het |
| Runx1 |
T |
A |
16: 92,410,648 (GRCm39) |
D256V |
probably damaging |
Het |
| Shc1 |
C |
A |
3: 89,334,715 (GRCm39) |
Q525K |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,507 (GRCm39) |
D51G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,642 (GRCm39) |
N557I |
probably benign |
Het |
| Slmap |
C |
T |
14: 26,254,586 (GRCm39) |
R32H |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,985 (GRCm39) |
I509T |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,855,007 (GRCm39) |
E215V |
probably damaging |
Het |
| Srr |
C |
A |
11: 74,801,134 (GRCm39) |
V138F |
probably benign |
Het |
| Tas2r118 |
G |
A |
6: 23,969,785 (GRCm39) |
T92I |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,300 (GRCm39) |
*920K |
probably null |
Het |
| Tenm2 |
T |
A |
11: 35,954,729 (GRCm39) |
Y1141F |
probably damaging |
Het |
| Thoc6 |
T |
C |
17: 23,887,841 (GRCm39) |
N322S |
probably benign |
Het |
| Tlcd2 |
A |
G |
11: 75,359,417 (GRCm39) |
I70V |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,028,795 (GRCm39) |
D128G |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,238 (GRCm39) |
V64A |
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,632,845 (GRCm39) |
W122R |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,213,246 (GRCm39) |
D144G |
possibly damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,828 (GRCm39) |
D627G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,853,099 (GRCm39) |
I13V |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,605 (GRCm39) |
K775R |
probably damaging |
Het |
| Wdfy3 |
CG |
C |
5: 102,030,827 (GRCm39) |
|
probably null |
Het |
| Zw10 |
C |
T |
9: 48,982,944 (GRCm39) |
T525I |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCCACTGTTCCATAGAGAAG -3'
(R):5'- TGATTGATTGAAAGCTGTAGGC -3'
Sequencing Primer
(F):5'- CAAGCAGTTACGAGCACCTGTTG -3'
(R):5'- TGCTACATAGGGATTCCATGCCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation