Incidental Mutation 'IGL01505:Ikbke'
ID |
89034 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ikbke
|
Ensembl Gene |
ENSMUSG00000042349 |
Gene Name |
inhibitor of kappaB kinase epsilon |
Synonyms |
IKKepsilon, IKK-i |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01505
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 131183048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 692
(D692E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062108
AA Change: D716E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: D716E
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 |
noncoding transcript
Transcript: ENSMUST00000160748
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161764
AA Change: D692E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000124190 Gene: ENSMUSG00000042349 AA Change: D692E
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: ENSMUST00000162437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188115
|
Coding Region Coverage |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
T |
C |
18: 69,080,418 (GRCm39) |
|
probably null |
Het |
A2m |
A |
G |
6: 121,653,906 (GRCm39) |
N1413S |
possibly damaging |
Het |
Aadacl4fm4 |
C |
T |
4: 144,401,188 (GRCm39) |
V99M |
probably damaging |
Het |
Arhgap45 |
A |
T |
10: 79,862,376 (GRCm39) |
N488Y |
probably benign |
Het |
Arid4a |
G |
A |
12: 71,083,889 (GRCm39) |
D94N |
probably damaging |
Het |
Atp7a |
A |
G |
X: 105,153,436 (GRCm39) |
K1114E |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,265,512 (GRCm39) |
V275M |
probably benign |
Het |
Ceacam12 |
T |
C |
7: 17,801,357 (GRCm39) |
V112A |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,229,345 (GRCm39) |
D2256V |
probably benign |
Het |
Chid1 |
A |
T |
7: 141,093,807 (GRCm39) |
|
probably null |
Het |
Clcn5 |
A |
T |
X: 7,036,678 (GRCm39) |
L268* |
probably null |
Het |
Cldn17 |
A |
G |
16: 88,303,591 (GRCm39) |
I46T |
possibly damaging |
Het |
Cnot1 |
A |
T |
8: 96,455,346 (GRCm39) |
I2025N |
probably damaging |
Het |
Cntn5 |
C |
T |
9: 9,706,092 (GRCm39) |
V574M |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,318,619 (GRCm39) |
C1373S |
unknown |
Het |
Col9a1 |
A |
G |
1: 24,224,205 (GRCm39) |
N129S |
unknown |
Het |
Cp |
C |
T |
3: 20,031,356 (GRCm39) |
P598S |
possibly damaging |
Het |
Cpb1 |
G |
A |
3: 20,320,410 (GRCm39) |
R150C |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,115,917 (GRCm39) |
|
probably null |
Het |
Dnajb7 |
T |
C |
15: 81,291,692 (GRCm39) |
E215G |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,760,239 (GRCm39) |
R1634Q |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,554,004 (GRCm39) |
T313A |
possibly damaging |
Het |
Fgd2 |
T |
A |
17: 29,585,971 (GRCm39) |
V185E |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,902,003 (GRCm38) |
|
probably null |
Het |
Fzd7 |
A |
G |
1: 59,523,062 (GRCm39) |
E315G |
probably benign |
Het |
Gjd3 |
T |
A |
11: 102,691,552 (GRCm39) |
K150N |
probably benign |
Het |
Gpihbp1 |
C |
T |
15: 75,469,977 (GRCm39) |
|
probably benign |
Het |
Gpr160 |
T |
C |
3: 30,950,002 (GRCm39) |
S25P |
possibly damaging |
Het |
Grsf1 |
G |
A |
5: 88,820,608 (GRCm39) |
R58* |
probably null |
Het |
Ifit1 |
T |
A |
19: 34,625,854 (GRCm39) |
M330K |
probably benign |
Het |
Igkv1-122 |
T |
C |
6: 67,994,178 (GRCm39) |
V22A |
probably benign |
Het |
Il15ra |
T |
C |
2: 11,737,956 (GRCm39) |
|
probably benign |
Het |
Il18rap |
A |
G |
1: 40,576,244 (GRCm39) |
I252V |
probably damaging |
Het |
Klra10 |
C |
T |
6: 130,249,680 (GRCm39) |
G202R |
probably damaging |
Het |
Kpna7 |
A |
G |
5: 144,929,661 (GRCm39) |
V388A |
probably damaging |
Het |
L2hgdh |
A |
G |
12: 69,768,175 (GRCm39) |
S108P |
probably damaging |
Het |
Msto1 |
G |
A |
3: 88,818,050 (GRCm39) |
T388M |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,562,441 (GRCm39) |
E908G |
probably damaging |
Het |
Neto1 |
C |
A |
18: 86,491,814 (GRCm39) |
D238E |
possibly damaging |
Het |
Nlrp5 |
T |
A |
7: 23,117,159 (GRCm39) |
D294E |
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,635,816 (GRCm39) |
S306P |
probably damaging |
Het |
Or8b41 |
T |
A |
9: 38,055,167 (GRCm39) |
C240* |
probably null |
Het |
Pard3 |
T |
A |
8: 128,050,544 (GRCm39) |
L202H |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,293 (GRCm39) |
N190S |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,127,222 (GRCm39) |
D1077G |
probably benign |
Het |
Pmfbp1 |
A |
C |
8: 110,240,543 (GRCm39) |
L208F |
probably damaging |
Het |
Pms1 |
C |
T |
1: 53,246,130 (GRCm39) |
D470N |
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,238,578 (GRCm39) |
F108L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,644,804 (GRCm39) |
M327K |
possibly damaging |
Het |
Slc37a4 |
T |
A |
9: 44,311,261 (GRCm39) |
L184Q |
probably damaging |
Het |
Smdt1 |
T |
C |
15: 82,232,094 (GRCm39) |
|
probably benign |
Het |
Smg6 |
A |
G |
11: 75,047,117 (GRCm39) |
Y1270C |
probably damaging |
Het |
Speer4f2 |
T |
A |
5: 17,581,565 (GRCm39) |
V169E |
possibly damaging |
Het |
Stpg2 |
C |
T |
3: 139,023,214 (GRCm39) |
A410V |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,764,164 (GRCm39) |
D555E |
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,558,808 (GRCm39) |
Y46H |
probably damaging |
Het |
Vmn2r111 |
G |
A |
17: 22,767,553 (GRCm39) |
S648L |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,507,267 (GRCm39) |
R682* |
probably null |
Het |
Xkr5 |
A |
T |
8: 18,983,514 (GRCm39) |
I676N |
probably damaging |
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 |
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 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1762:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
R4968: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 |
|
|
Posted On |
2013-12-03 |