Incidental Mutation 'R9380:Chuk'
ID |
709984 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9380 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44061774-44095919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44062958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 744
(A744S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000071698]
[ENSMUST00000112028]
[ENSMUST00000119591]
[ENSMUST00000169092]
[ENSMUST00000170801]
[ENSMUST00000172041]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000026217
AA Change: A744S
|
SMART Domains |
Protein: ENSMUSP00000026217 Gene: ENSMUSG00000025199 AA Change: A744S
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: ENSMUST00000071698
|
SMART Domains |
Protein: ENSMUSP00000071618 Gene: ENSMUSG00000025198
Domain | Start | End | E-Value | Type |
PHB
|
23 |
189 |
1.26e-38 |
SMART |
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112028
|
SMART Domains |
Protein: ENSMUSP00000107659 Gene: ENSMUSG00000025198
Domain | Start | End | E-Value | Type |
PHB
|
23 |
189 |
1.26e-38 |
SMART |
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
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 |
probably benign
Transcript: ENSMUST00000169092
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170801
|
SMART Domains |
Protein: ENSMUSP00000129684 Gene: ENSMUSG00000025198
Domain | Start | End | E-Value | Type |
PHB
|
23 |
189 |
1.26e-38 |
SMART |
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172041
|
SMART Domains |
Protein: ENSMUSP00000131012 Gene: ENSMUSG00000025198
Domain | Start | End | E-Value | Type |
PHB
|
23 |
158 |
8.76e-15 |
SMART |
|
Meta Mutation Damage Score |
0.0852 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
T |
G |
1: 78,659,602 (GRCm39) |
C85G |
possibly damaging |
Het |
Alox12e |
A |
T |
11: 70,206,994 (GRCm39) |
|
probably null |
Het |
Aoc1l2 |
T |
C |
6: 48,910,064 (GRCm39) |
I667T |
probably damaging |
Het |
Asb10 |
A |
C |
5: 24,739,103 (GRCm39) |
|
probably null |
Het |
B3galt9 |
G |
A |
2: 34,729,029 (GRCm39) |
C276Y |
probably damaging |
Het |
Bcl2a1d |
G |
A |
9: 88,613,935 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
A |
T |
8: 3,653,999 (GRCm39) |
K556N |
probably benign |
Het |
Cd300lf |
T |
A |
11: 115,015,153 (GRCm39) |
T146S |
probably benign |
Het |
Clint1 |
A |
T |
11: 45,742,988 (GRCm39) |
M4L |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,029,865 (GRCm39) |
I344M |
possibly damaging |
Het |
Cpne1 |
T |
C |
2: 155,920,721 (GRCm39) |
D135G |
probably benign |
Het |
Csgalnact2 |
C |
A |
6: 118,105,840 (GRCm39) |
L159F |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,635,989 (GRCm39) |
F325L |
probably benign |
Het |
Dnal4 |
G |
A |
15: 79,647,790 (GRCm39) |
S25L |
possibly damaging |
Het |
Ep300 |
T |
C |
15: 81,500,245 (GRCm39) |
M515T |
unknown |
Het |
Ewsr1 |
T |
C |
11: 5,043,730 (GRCm39) |
Y18C |
possibly damaging |
Het |
Fam25a |
T |
C |
14: 34,073,957 (GRCm39) |
T72A |
possibly damaging |
Het |
Flii |
T |
C |
11: 60,606,297 (GRCm39) |
Y1131C |
probably benign |
Het |
Foxj1 |
C |
T |
11: 116,222,547 (GRCm39) |
A419T |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,693,991 (GRCm39) |
T323A |
possibly damaging |
Het |
Furin |
T |
C |
7: 80,041,506 (GRCm39) |
I551V |
probably benign |
Het |
Gbp11 |
A |
G |
5: 105,475,202 (GRCm39) |
V382A |
probably benign |
Het |
Gfod1 |
A |
C |
13: 43,354,320 (GRCm39) |
D218E |
probably damaging |
Het |
Glp2r |
A |
T |
11: 67,637,572 (GRCm39) |
I153N |
possibly damaging |
Het |
Gm11214 |
G |
T |
4: 63,580,850 (GRCm39) |
P100T |
possibly damaging |
Het |
Gne |
A |
T |
4: 44,066,807 (GRCm39) |
F69I |
probably benign |
Het |
Hsd3b2 |
T |
C |
3: 98,619,453 (GRCm39) |
K164R |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,177,170 (GRCm39) |
R272G |
probably damaging |
Het |
Hydin |
C |
A |
8: 111,290,504 (GRCm39) |
T3321N |
probably benign |
Het |
Impg1 |
A |
T |
9: 80,289,077 (GRCm39) |
S327T |
probably benign |
Het |
Izumo2 |
T |
C |
7: 44,364,812 (GRCm39) |
V159A |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,678,926 (GRCm39) |
S430P |
probably damaging |
Het |
Kcnj9 |
T |
A |
1: 172,153,447 (GRCm39) |
T226S |
probably benign |
Het |
Kl |
T |
A |
5: 150,912,342 (GRCm39) |
M697K |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
G |
A |
7: 65,928,331 (GRCm39) |
P1266S |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,177,598 (GRCm39) |
N1499K |
probably benign |
Het |
Mybbp1a |
A |
G |
11: 72,333,668 (GRCm39) |
I182V |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nin |
A |
G |
12: 70,074,805 (GRCm39) |
L1859P |
|
Het |
Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
Or2y10 |
A |
G |
11: 49,454,904 (GRCm39) |
D52G |
possibly damaging |
Het |
Or4a67 |
A |
T |
2: 88,598,530 (GRCm39) |
I43N |
probably damaging |
Het |
Or4k1 |
C |
A |
14: 50,377,770 (GRCm39) |
G109W |
probably damaging |
Het |
Or8b50 |
A |
G |
9: 38,518,415 (GRCm39) |
Y218C |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,108,980 (GRCm39) |
S421T |
probably damaging |
Het |
Paqr7 |
A |
G |
4: 134,234,350 (GRCm39) |
N69S |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,056,351 (GRCm39) |
S1109T |
possibly damaging |
Het |
Pdgfrb |
G |
A |
18: 61,197,920 (GRCm39) |
G231D |
probably damaging |
Het |
Pip5k1b |
A |
G |
19: 24,356,417 (GRCm39) |
Y174H |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,769,262 (GRCm39) |
L9Q |
unknown |
Het |
Psmg4 |
A |
T |
13: 34,350,080 (GRCm39) |
T71S |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
Qser1 |
G |
A |
2: 104,619,691 (GRCm39) |
Q284* |
probably null |
Het |
Rcc2 |
G |
T |
4: 140,429,702 (GRCm39) |
A79S |
probably benign |
Het |
Rgl3 |
G |
T |
9: 21,888,123 (GRCm39) |
Q464K |
probably damaging |
Het |
Rhov |
C |
A |
2: 119,100,604 (GRCm39) |
R211L |
probably benign |
Het |
Rp1l1 |
A |
G |
14: 64,266,475 (GRCm39) |
D687G |
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,609,654 (GRCm39) |
I291V |
probably benign |
Het |
Sh3glb2 |
A |
T |
2: 30,238,625 (GRCm39) |
V189E |
probably damaging |
Het |
Slc46a2 |
A |
G |
4: 59,913,867 (GRCm39) |
I352T |
probably damaging |
Het |
Sucla2 |
T |
A |
14: 73,828,312 (GRCm39) |
N306K |
probably benign |
Het |
Suco |
A |
G |
1: 161,646,074 (GRCm39) |
V1209A |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,226,771 (GRCm39) |
L1152Q |
possibly damaging |
Het |
Tanc1 |
A |
T |
2: 59,665,796 (GRCm39) |
K1185M |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,381 (GRCm39) |
F216L |
probably benign |
Het |
Tead1 |
A |
T |
7: 112,441,105 (GRCm39) |
H78L |
possibly damaging |
Het |
Tex12 |
T |
C |
9: 50,469,586 (GRCm39) |
I64V |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Trank1 |
A |
G |
9: 111,221,738 (GRCm39) |
E2825G |
probably benign |
Het |
Trappc13 |
T |
A |
13: 104,280,707 (GRCm39) |
Y399F |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,212,992 (GRCm39) |
D102G |
probably damaging |
Het |
Trim27 |
G |
T |
13: 21,364,680 (GRCm39) |
V6L |
probably benign |
Het |
Trim55 |
A |
G |
3: 19,728,559 (GRCm39) |
T457A |
probably benign |
Het |
Trrap |
A |
G |
5: 144,769,981 (GRCm39) |
E2716G |
probably benign |
Het |
Usp10 |
T |
G |
8: 120,682,943 (GRCm39) |
L712R |
probably damaging |
Het |
Vldlr |
T |
A |
19: 27,216,192 (GRCm39) |
C338S |
possibly damaging |
Het |
Zfp946 |
A |
G |
17: 22,673,680 (GRCm39) |
I145V |
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 |
|
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 |
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 |
|
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'- ATGATCTCCCTCATTAGTTGCG -3'
(R):5'- TGAGTTCCCAGAAGATAAAGTAAGC -3'
Sequencing Primer
(F):5'- CCCTCATTAGTTGCGGTGTTAAAAAG -3'
(R):5'- TAAAAGTGAACTCTACATTCAG -3'
|
Posted On |
2022-04-18 |