Incidental Mutation 'R6768:Chuk'
| ID |
532066 |
| 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 |
044884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6768 (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 44085390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| 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: V252A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: V252A
| 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 |
possibly damaging
Transcript: ENSMUST00000119591
AA Change: V252A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: V252A
| 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 |
0.1986 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
| Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
| Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
| Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
| Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
| Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
| Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
| Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
| Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
| Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
| Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
| Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
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 |
|
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'- AATGCAGTTCCTCAGTCACAC -3'
(R):5'- TGGCATAGTTAATGGTAGTGGAAAC -3'
Sequencing Primer
(F):5'- GTTCCTCAGTCACACTAAGCG -3'
(R):5'- ATGGTAGTGGAAACATTTCAGTTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation