Incidental Mutation 'R4211:Ikbke'
ID |
319171 |
Institutional Source |
Beutler Lab
|
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 # |
R4211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131191085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 519
(I519F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062108
AA Change: I543F
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: I543F
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 damaging
Transcript: ENSMUST00000161764
AA Change: I519F
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124190 Gene: ENSMUSG00000042349 AA Change: I519F
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: ENSMUST00000163029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188115
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
Tfpt |
A |
G |
7: 3,623,386 (GRCm39) |
Y240H |
probably damaging |
Het |
Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAGACTCTTCCTGCCTTAGACC -3'
(R):5'- GGCTCTTTTACCCAGTCCAG -3'
Sequencing Primer
(F):5'- TTCCTGCCTTAGACCAACAG -3'
(R):5'- TCTGTCTCACCTGCTGGGG -3'
|
Posted On |
2015-06-10 |