Incidental Mutation 'R4968:Ikbke'
ID |
384161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikbke
|
Ensembl Gene |
ENSMUSG00000042349 |
Gene Name |
inhibitor of kappaB kinase epsilon |
Synonyms |
IKKepsilon, IKK-i |
MMRRC Submission |
042564-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4968 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCC to G
at 131203004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062108
AA Change: 79
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: 79
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
9 |
249 |
1.1e-29 |
PFAM |
Pfam:Pkinase
|
9 |
301 |
6.7e-47 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159195
|
SMART Domains |
Protein: ENSMUSP00000124486 Gene: ENSMUSG00000042349
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
9 |
130 |
2.2e-23 |
PFAM |
Pfam:Pkinase_Tyr
|
9 |
130 |
2.1e-17 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161764
|
SMART Domains |
Protein: ENSMUSP00000124190 Gene: ENSMUSG00000042349
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
49 |
278 |
9.3e-31 |
PFAM |
Pfam:Pkinase_Tyr
|
50 |
226 |
5.7e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163029
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
A |
T |
11: 58,769,616 (GRCm39) |
K53* |
probably null |
Het |
4921513D11Rik |
T |
C |
17: 79,935,651 (GRCm39) |
S255P |
probably benign |
Het |
Ace |
A |
G |
11: 105,872,679 (GRCm39) |
N367S |
possibly damaging |
Het |
Agl |
A |
T |
3: 116,582,175 (GRCm39) |
N282K |
probably benign |
Het |
Ahnak |
C |
A |
19: 8,992,464 (GRCm39) |
P4583T |
probably damaging |
Het |
Alpi |
T |
C |
1: 87,029,247 (GRCm39) |
D4G |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Aplnr |
T |
C |
2: 84,967,289 (GRCm39) |
Y105H |
probably damaging |
Het |
Arhgap9 |
G |
A |
10: 127,162,875 (GRCm39) |
R395K |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,807,067 (GRCm39) |
M119T |
|
Het |
Atp5f1b |
T |
C |
10: 127,919,856 (GRCm39) |
F75L |
probably damaging |
Het |
B4galt6 |
G |
T |
18: 20,861,026 (GRCm39) |
N75K |
possibly damaging |
Het |
Bco1 |
A |
T |
8: 117,857,833 (GRCm39) |
H486L |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,947,351 (GRCm39) |
L480Q |
probably null |
Het |
Ccdc34 |
G |
T |
2: 109,871,078 (GRCm39) |
|
probably null |
Het |
Cdh19 |
T |
C |
1: 110,852,958 (GRCm39) |
S326G |
probably benign |
Het |
Cep89 |
A |
G |
7: 35,109,055 (GRCm39) |
D178G |
possibly damaging |
Het |
Cyp11b2 |
A |
T |
15: 74,725,854 (GRCm39) |
|
probably null |
Het |
Cyp21a1 |
A |
G |
17: 35,022,383 (GRCm39) |
I157T |
possibly damaging |
Het |
Dcbld2 |
A |
G |
16: 58,245,074 (GRCm39) |
D116G |
probably damaging |
Het |
Ddx5 |
T |
C |
11: 106,674,953 (GRCm39) |
Q377R |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,503,724 (GRCm39) |
D279G |
probably damaging |
Het |
F11 |
G |
A |
8: 45,698,770 (GRCm39) |
A458V |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,645,618 (GRCm39) |
G326W |
probably damaging |
Het |
Fhit |
C |
T |
14: 10,421,522 (GRCm38) |
V26M |
probably damaging |
Het |
Gjb5 |
A |
T |
4: 127,250,015 (GRCm39) |
V43E |
probably damaging |
Het |
Grtp1 |
A |
T |
8: 13,242,184 (GRCm39) |
I75N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,533,221 (GRCm39) |
I3022T |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,962 (GRCm39) |
T166A |
probably benign |
Het |
Ift70b |
T |
C |
2: 75,768,391 (GRCm39) |
I121V |
probably benign |
Het |
Iho1 |
C |
T |
9: 108,289,713 (GRCm39) |
V170M |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,401,161 (GRCm39) |
I491V |
probably benign |
Het |
Kcp |
A |
T |
6: 29,497,628 (GRCm39) |
C519* |
probably null |
Het |
Lcmt2 |
T |
C |
2: 120,970,217 (GRCm39) |
T69A |
probably benign |
Het |
Lmf1 |
A |
G |
17: 25,804,592 (GRCm39) |
Y90C |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,798,064 (GRCm39) |
D612G |
probably damaging |
Het |
Lrfn5 |
C |
A |
12: 61,886,461 (GRCm39) |
S83Y |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,719 (GRCm39) |
|
probably null |
Het |
Lrp1b |
C |
T |
2: 41,679,074 (GRCm39) |
C6Y |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,754,993 (GRCm39) |
D256G |
probably damaging |
Het |
Mphosph10 |
A |
G |
7: 64,032,656 (GRCm39) |
Y478H |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,124 (GRCm39) |
H167R |
probably benign |
Het |
Mtss1 |
A |
G |
15: 58,815,767 (GRCm39) |
S598P |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,684,049 (GRCm39) |
E1154G |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,808,270 (GRCm39) |
V1218A |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,792,328 (GRCm39) |
K599R |
probably damaging |
Het |
Neurl4 |
T |
C |
11: 69,798,134 (GRCm39) |
M771T |
probably damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,936 (GRCm39) |
V149A |
probably benign |
Het |
Nup133 |
A |
T |
8: 124,641,935 (GRCm39) |
S843T |
probably benign |
Het |
Or2y1c |
T |
C |
11: 49,361,358 (GRCm39) |
C127R |
probably damaging |
Het |
Or51k1 |
T |
C |
7: 103,661,777 (GRCm39) |
N44S |
probably damaging |
Het |
P3h2 |
A |
G |
16: 25,811,412 (GRCm39) |
|
probably null |
Het |
Piezo2 |
A |
T |
18: 63,278,042 (GRCm39) |
Y287* |
probably null |
Het |
Prob1 |
T |
C |
18: 35,785,605 (GRCm39) |
Y883C |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,050,011 (GRCm39) |
H506Q |
probably benign |
Het |
Ripor3 |
T |
C |
2: 167,827,037 (GRCm39) |
D658G |
probably benign |
Het |
Rufy1 |
T |
A |
11: 50,301,434 (GRCm39) |
I333L |
probably benign |
Het |
Selenok |
T |
A |
14: 29,692,064 (GRCm39) |
V34E |
probably benign |
Het |
Selplg |
T |
C |
5: 113,957,787 (GRCm39) |
E173G |
possibly damaging |
Het |
Septin10 |
A |
G |
10: 59,016,943 (GRCm39) |
F194L |
probably damaging |
Het |
Sptbn2 |
A |
T |
19: 4,779,230 (GRCm39) |
|
probably null |
Het |
St6galnac6 |
C |
T |
2: 32,498,098 (GRCm39) |
P6S |
probably benign |
Het |
Syngr2 |
T |
C |
11: 117,704,296 (GRCm39) |
Y194H |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,894,576 (GRCm39) |
I649T |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,850,816 (GRCm39) |
N323K |
probably benign |
Het |
Tuba8 |
T |
A |
6: 121,197,548 (GRCm39) |
L70Q |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,949,478 (GRCm39) |
T633A |
probably benign |
Het |
Zfp280b |
G |
T |
10: 75,875,188 (GRCm39) |
V356L |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,944,001 (GRCm39) |
V746D |
probably benign |
Het |
|
Other mutations in Ikbke |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ikbke
|
APN |
1 |
131,197,749 (GRCm39) |
splice site |
probably null |
|
IGL00703:Ikbke
|
APN |
1 |
131,183,039 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01079:Ikbke
|
APN |
1 |
131,193,384 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL01106:Ikbke
|
APN |
1 |
131,187,792 (GRCm39) |
splice site |
probably benign |
|
IGL01336:Ikbke
|
APN |
1 |
131,201,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01505:Ikbke
|
APN |
1 |
131,183,048 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01564:Ikbke
|
APN |
1 |
131,185,658 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01568:Ikbke
|
APN |
1 |
131,185,633 (GRCm39) |
splice site |
probably null |
|
IGL01668:Ikbke
|
APN |
1 |
131,184,675 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01977:Ikbke
|
APN |
1 |
131,199,838 (GRCm39) |
splice site |
probably benign |
|
IGL02162:Ikbke
|
APN |
1 |
131,201,452 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02653:Ikbke
|
APN |
1 |
131,199,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02859:Ikbke
|
APN |
1 |
131,197,934 (GRCm39) |
missense |
probably damaging |
0.97 |
triathelon
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R0028:Ikbke
|
UTSW |
1 |
131,199,921 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0427:Ikbke
|
UTSW |
1 |
131,185,647 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0607:Ikbke
|
UTSW |
1 |
131,197,921 (GRCm39) |
critical splice donor site |
probably null |
|
R1295:Ikbke
|
UTSW |
1 |
131,197,963 (GRCm39) |
missense |
probably benign |
0.03 |
R1470:Ikbke
|
UTSW |
1 |
131,204,224 (GRCm39) |
missense |
probably null |
1.00 |
R1470:Ikbke
|
UTSW |
1 |
131,204,224 (GRCm39) |
missense |
probably null |
1.00 |
R1720:Ikbke
|
UTSW |
1 |
131,186,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1728:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1729:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1730:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1730:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1739:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1748:Ikbke
|
UTSW |
1 |
131,186,937 (GRCm39) |
missense |
probably benign |
0.02 |
R1762:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1763:Ikbke
|
UTSW |
1 |
131,193,614 (GRCm39) |
missense |
probably benign |
0.01 |
R1783:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1784:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1785:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1794:Ikbke
|
UTSW |
1 |
131,186,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Ikbke
|
UTSW |
1 |
131,201,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R2144:Ikbke
|
UTSW |
1 |
131,201,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R2145:Ikbke
|
UTSW |
1 |
131,201,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R2386:Ikbke
|
UTSW |
1 |
131,187,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R2893:Ikbke
|
UTSW |
1 |
131,197,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Ikbke
|
UTSW |
1 |
131,191,085 (GRCm39) |
missense |
probably damaging |
0.97 |
R4211:Ikbke
|
UTSW |
1 |
131,191,085 (GRCm39) |
missense |
probably damaging |
0.97 |
R4284:Ikbke
|
UTSW |
1 |
131,203,515 (GRCm39) |
critical splice donor site |
probably null |
|
R4461:Ikbke
|
UTSW |
1 |
131,193,659 (GRCm39) |
missense |
probably benign |
|
R4551:Ikbke
|
UTSW |
1 |
131,185,770 (GRCm39) |
intron |
probably benign |
|
R4560:Ikbke
|
UTSW |
1 |
131,199,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Ikbke
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R4855:Ikbke
|
UTSW |
1 |
131,184,848 (GRCm39) |
splice site |
probably null |
|
R4876:Ikbke
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R4879:Ikbke
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R4967:Ikbke
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R4971:Ikbke
|
UTSW |
1 |
131,203,004 (GRCm39) |
frame shift |
probably null |
|
R5020:Ikbke
|
UTSW |
1 |
131,201,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Ikbke
|
UTSW |
1 |
131,204,204 (GRCm39) |
critical splice donor site |
probably null |
|
R5814:Ikbke
|
UTSW |
1 |
131,199,516 (GRCm39) |
missense |
probably damaging |
0.96 |
R6392:Ikbke
|
UTSW |
1 |
131,202,883 (GRCm39) |
splice site |
probably null |
|
R6492:Ikbke
|
UTSW |
1 |
131,186,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6899:Ikbke
|
UTSW |
1 |
131,203,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Ikbke
|
UTSW |
1 |
131,199,887 (GRCm39) |
nonsense |
probably null |
|
R7583:Ikbke
|
UTSW |
1 |
131,204,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R7652:Ikbke
|
UTSW |
1 |
131,199,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7806:Ikbke
|
UTSW |
1 |
131,199,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R7984:Ikbke
|
UTSW |
1 |
131,203,523 (GRCm39) |
missense |
probably null |
1.00 |
R8211:Ikbke
|
UTSW |
1 |
131,199,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R8309:Ikbke
|
UTSW |
1 |
131,191,065 (GRCm39) |
nonsense |
probably null |
|
R9012:Ikbke
|
UTSW |
1 |
131,201,190 (GRCm39) |
missense |
probably damaging |
0.97 |
R9176:Ikbke
|
UTSW |
1 |
131,191,025 (GRCm39) |
missense |
probably benign |
0.01 |
R9466:Ikbke
|
UTSW |
1 |
131,193,445 (GRCm39) |
missense |
probably damaging |
0.96 |
R9483:Ikbke
|
UTSW |
1 |
131,198,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Ikbke
|
UTSW |
1 |
131,187,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0026:Ikbke
|
UTSW |
1 |
131,185,723 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACACGCATCCTGGACTTTG -3'
(R):5'- GGAAACTGGAATAAGTGCCCAATC -3'
Sequencing Primer
(F):5'- CATCCTGGACTTTGGCCATGG -3'
(R):5'- CCAATCAAAGAGGGCTTCTCGG -3'
|
Posted On |
2016-04-27 |