Incidental Mutation 'R7984:Ikbke'
ID |
651349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikbke
|
Ensembl Gene |
ENSMUSG00000042349 |
Gene Name |
inhibitor of kappaB kinase epsilon |
Synonyms |
IKKepsilon, IKK-i |
MMRRC Submission |
046025-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7984 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131203523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 50
(E50V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062108
AA Change: E50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: E50V
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
AA Change: E50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124486 Gene: ENSMUSG00000042349 AA Change: E50V
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: E50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124190 Gene: ENSMUSG00000042349 AA Change: E50V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
49 |
278 |
9.3e-31 |
PFAM |
Pfam:Pkinase_Tyr
|
50 |
226 |
5.7e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.8077 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (58/58) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
G |
T |
13: 4,645,679 (GRCm39) |
H226N |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,686,764 (GRCm39) |
D283G |
probably damaging |
Het |
Angel1 |
T |
C |
12: 86,767,068 (GRCm39) |
D436G |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,578,982 (GRCm39) |
R314Q |
probably damaging |
Het |
Apbb2 |
T |
C |
5: 66,465,035 (GRCm39) |
E629G |
probably damaging |
Het |
Card9 |
T |
G |
2: 26,246,784 (GRCm39) |
I355L |
probably benign |
Het |
Cdon |
C |
T |
9: 35,414,598 (GRCm39) |
P1158S |
probably benign |
Het |
Cpne7 |
T |
G |
8: 123,846,461 (GRCm39) |
V91G |
possibly damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,472 (GRCm39) |
T106S |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 30,989,772 (GRCm39) |
F3248Y |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,543,377 (GRCm39) |
D2264E |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,877,303 (GRCm39) |
N1078K |
unknown |
Het |
Emc1 |
T |
A |
4: 139,102,760 (GRCm39) |
L973H |
probably damaging |
Het |
Fer1l5 |
T |
A |
1: 36,447,702 (GRCm39) |
L955Q |
possibly damaging |
Het |
Fpr-rs7 |
T |
C |
17: 20,333,671 (GRCm39) |
N273S |
probably benign |
Het |
Gle1 |
T |
A |
2: 29,828,588 (GRCm39) |
Y137N |
probably damaging |
Het |
Grik4 |
G |
A |
9: 42,582,557 (GRCm39) |
Q130* |
probably null |
Het |
Hcn1 |
C |
T |
13: 118,112,609 (GRCm39) |
Q858* |
probably null |
Het |
Heg1 |
A |
C |
16: 33,583,945 (GRCm39) |
S76R |
possibly damaging |
Het |
Itga5 |
G |
A |
15: 103,264,379 (GRCm39) |
P297S |
probably damaging |
Het |
Kcng1 |
C |
A |
2: 168,104,406 (GRCm39) |
R480L |
possibly damaging |
Het |
Kdm3b |
G |
T |
18: 34,956,752 (GRCm39) |
E1236* |
probably null |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lrp5 |
A |
G |
19: 3,662,342 (GRCm39) |
F894L |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,950,477 (GRCm39) |
|
probably null |
Het |
Man2a2 |
T |
G |
7: 80,003,056 (GRCm39) |
T1018P |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,752,937 (GRCm39) |
Q772R |
possibly damaging |
Het |
Meioc |
T |
A |
11: 102,565,432 (GRCm39) |
N293K |
possibly damaging |
Het |
Mrps24 |
A |
T |
11: 5,657,495 (GRCm39) |
C34S |
possibly damaging |
Het |
Nek1 |
G |
T |
8: 61,574,087 (GRCm39) |
E1112* |
probably null |
Het |
Nt5dc2 |
A |
G |
14: 30,860,775 (GRCm39) |
S317G |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,997,151 (GRCm39) |
Q1492K |
possibly damaging |
Het |
Or2a57 |
T |
G |
6: 43,212,730 (GRCm39) |
S63A |
probably damaging |
Het |
Or52e4 |
T |
C |
7: 104,705,639 (GRCm39) |
F62S |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,941 (GRCm39) |
F69L |
probably benign |
Het |
Or8b36 |
A |
G |
9: 37,937,155 (GRCm39) |
T18A |
probably damaging |
Het |
Or9m1b |
T |
A |
2: 87,836,969 (GRCm39) |
N42I |
probably damaging |
Het |
Or9s23 |
A |
G |
1: 92,501,144 (GRCm39) |
I84V |
probably benign |
Het |
P2ry12 |
T |
A |
3: 59,125,022 (GRCm39) |
I218F |
probably damaging |
Het |
Paip1 |
C |
T |
13: 119,566,698 (GRCm39) |
Q11* |
probably null |
Het |
Pcdhga3 |
C |
A |
18: 37,809,549 (GRCm39) |
D667E |
probably benign |
Het |
Pcnx2 |
T |
G |
8: 126,485,865 (GRCm39) |
E1911A |
probably benign |
Het |
Pibf1 |
T |
C |
14: 99,459,063 (GRCm39) |
L678P |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
Prl2c1 |
G |
A |
13: 28,039,310 (GRCm39) |
|
probably null |
Het |
Rnf112 |
A |
G |
11: 61,340,306 (GRCm39) |
V656A |
possibly damaging |
Het |
Siglecf |
A |
C |
7: 43,004,655 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,856,811 (GRCm39) |
L32* |
probably null |
Het |
Slc7a1 |
A |
G |
5: 148,278,920 (GRCm39) |
V284A |
possibly damaging |
Het |
Slco5a1 |
T |
A |
1: 12,951,608 (GRCm39) |
H565L |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,333,465 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
G |
1: 12,929,497 (GRCm39) |
T255A |
probably benign |
Het |
Tmem130 |
C |
T |
5: 144,692,237 (GRCm39) |
G56R |
possibly damaging |
Het |
Trmt1l |
A |
C |
1: 151,311,489 (GRCm39) |
Q116H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,554,094 (GRCm39) |
W30870R |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,173,973 (GRCm39) |
L1600F |
unknown |
Het |
Vmn1r233 |
C |
T |
17: 21,214,417 (GRCm39) |
V178M |
probably damaging |
Het |
Vmn2r18 |
G |
A |
5: 151,485,526 (GRCm39) |
P656L |
probably damaging |
Het |
Vmn2r33 |
A |
T |
7: 7,566,862 (GRCm39) |
D83E |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,880,059 (GRCm39) |
V3045I |
probably benign |
Het |
Wdr25 |
A |
T |
12: 108,976,983 (GRCm39) |
|
probably null |
Het |
Xpo6 |
A |
G |
7: 125,719,616 (GRCm39) |
V591A |
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 |
|
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 |
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'- AATCAATGCCTCTGGACTGC -3'
(R):5'- TCACTTCCAAGCTGCTCGAG -3'
Sequencing Primer
(F):5'- CAATGCCTCTGGACTGCTGATG -3'
(R):5'- TGCTGATGTGAGCCCACC -3'
|
Posted On |
2020-09-15 |