Incidental Mutation 'R8038:Chuk'
| ID |
618361 |
| 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 |
067475-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8038 (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 44067416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 580
(Y580H)
|
| 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: Y580H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: Y580H
| 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: Y580H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: Y580H
| 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 |
|
| Meta Mutation Damage Score |
0.0755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
| Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
| Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
| Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,872,463 (GRCm39) |
I225V |
probably benign |
Het |
| Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
| Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
| Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
| Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
| Skint4 |
T |
G |
4: 111,977,003 (GRCm39) |
|
probably benign |
Het |
| Slc13a5 |
T |
C |
11: 72,144,196 (GRCm39) |
K294R |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
| Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
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 |
|
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'- GCATATGTTCAGGGCTTACAC -3'
(R):5'- AGCTAAGACAACAGCAGTGC -3'
Sequencing Primer
(F):5'- ACACAGCACCATGTTTTATAAGATAC -3'
(R):5'- GTGCCACACTTCAAGGACAGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation