Incidental Mutation 'R9012:Ikbke'
| ID |
685670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
068842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9012 (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 C
at 131201190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 207
(I207V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062108
AA Change: I207V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: I207V
| 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: I183V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: I183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
49 |
278 |
9.3e-31 |
PFAM |
|
Pfam:Pkinase_Tyr
|
50 |
226 |
5.7e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
T |
C |
8: 125,290,954 (GRCm39) |
N118D |
probably benign |
Het |
| Apol8 |
T |
C |
15: 77,634,324 (GRCm39) |
D84G |
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,187,838 (GRCm39) |
D19E |
probably benign |
Het |
| B3gnt3 |
G |
T |
8: 72,145,673 (GRCm39) |
H232N |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,921,964 (GRCm39) |
K347R |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,814,050 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
C |
T |
1: 164,110,062 (GRCm39) |
R390W |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,859,077 (GRCm39) |
V93A |
|
Het |
| Cfap91 |
T |
C |
16: 38,122,335 (GRCm39) |
E712G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,268,567 (GRCm39) |
I191V |
possibly damaging |
Het |
| Coro1c |
T |
C |
5: 113,988,737 (GRCm39) |
D202G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,447 (GRCm39) |
I85T |
probably benign |
Het |
| Cyp2c55 |
C |
T |
19: 39,030,560 (GRCm39) |
T464I |
probably benign |
Het |
| Dlgap1 |
G |
A |
17: 70,823,182 (GRCm39) |
E56K |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,470,156 (GRCm39) |
F298L |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,822,934 (GRCm39) |
W237R |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,711,347 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
A |
7: 80,032,884 (GRCm39) |
D287V |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,567,027 (GRCm39) |
W557L |
probably damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,263 (GRCm39) |
N555D |
possibly damaging |
Het |
| Gm10277 |
C |
T |
11: 77,676,848 (GRCm39) |
R41K |
unknown |
Het |
| Gm21834 |
T |
C |
17: 58,049,162 (GRCm39) |
E18G |
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,829 (GRCm39) |
F346L |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,159,402 (GRCm39) |
V524E |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,996 (GRCm39) |
I492V |
unknown |
Het |
| Itsn1 |
C |
A |
16: 91,645,849 (GRCm39) |
F846L |
unknown |
Het |
| Ldhal6b |
A |
T |
17: 5,467,942 (GRCm39) |
Y331N |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,978 (GRCm39) |
T1816P |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,593,550 (GRCm39) |
R19H |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,934,606 (GRCm39) |
T338S |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,791,960 (GRCm39) |
E832G |
probably benign |
Het |
| Myom1 |
T |
G |
17: 71,407,103 (GRCm39) |
D1173E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,074,733 (GRCm39) |
I821F |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,021,423 (GRCm39) |
K806E |
probably benign |
Het |
| Or2ag13 |
T |
C |
7: 106,313,115 (GRCm39) |
M258V |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,929 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or6c215 |
A |
C |
10: 129,637,471 (GRCm39) |
S308A |
probably benign |
Het |
| Palld |
T |
A |
8: 62,173,697 (GRCm39) |
S321C |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,062,847 (GRCm39) |
|
probably benign |
Het |
| Prr35 |
A |
G |
17: 26,166,685 (GRCm39) |
L284P |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,596 (GRCm39) |
H81L |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,489,411 (GRCm39) |
E905K |
probably benign |
Het |
| Siglecg |
T |
A |
7: 43,060,523 (GRCm39) |
L301Q |
probably damaging |
Het |
| Slc25a15 |
A |
G |
8: 22,867,878 (GRCm39) |
W301R |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,602,554 (GRCm39) |
V169D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,320 (GRCm39) |
V1174A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,982,491 (GRCm39) |
V363A |
probably damaging |
Het |
| Sppl3 |
C |
A |
5: 115,226,987 (GRCm39) |
P239T |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,500,611 (GRCm39) |
S650T |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,688 (GRCm39) |
T402A |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,092,144 (GRCm39) |
E84D |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,523,208 (GRCm39) |
V56A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,090 (GRCm39) |
T192A |
possibly damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,627 (GRCm39) |
D316G |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,915 (GRCm39) |
W218R |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,124,391 (GRCm39) |
S330G |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,971 (GRCm39) |
V220A |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,960 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,283 (GRCm39) |
C347S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,416 (GRCm39) |
C294* |
probably null |
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 |
|
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 |
|
|
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'- GGCTCTGTAACCTAAGCCTTAATG -3'
(R):5'- ATGTTGGTGACCCTATGCCC -3'
Sequencing Primer
(F):5'- CTGTAACCTAAGCCTTAATGGAGAC -3'
(R):5'- ATGCCCTCGCTGTGTGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation