Incidental Mutation 'R4560:Ikbke'
ID |
343022 |
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 # |
R4560 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 131199857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 243
(C243Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062108
AA Change: C267Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: C267Y
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 damaging
Transcript: ENSMUST00000161764
AA Change: C243Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124190 Gene: ENSMUSG00000042349 AA Change: C243Y
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
Cog8 |
A |
T |
8: 107,778,843 (GRCm39) |
|
probably null |
Het |
Ctif |
A |
T |
18: 75,652,952 (GRCm39) |
L435Q |
probably damaging |
Het |
Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,161,970 (GRCm39) |
V140A |
probably damaging |
Het |
Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,678,851 (GRCm39) |
V791D |
probably damaging |
Het |
Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
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 |
|
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'- TCTTCCACCTCCAGGATGTTGG -3'
(R):5'- TGGCTGAGTGACATGGACTG -3'
Sequencing Primer
(F):5'- CTCCAGGATGTTGGCCAGGATG -3'
(R):5'- CTGAGTGACATGGACTGTGATG -3'
|
Posted On |
2015-09-24 |