Incidental Mutation 'IGL01977:Ikbke'
| ID |
181748 |
| 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 # |
IGL01977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 131199838 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 benign
Transcript: ENSMUST00000062108
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
| 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 benign
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 benign
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
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
| Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
| Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
| Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
| Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
| Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
| Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
| Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
| Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
| Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
| Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
| Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
| Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
| Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
| Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
| Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation