Incidental Mutation 'R4876:Ikbke'
| ID |
376844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
042485-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4876 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCC to G
at 131203004 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 null
Transcript: ENSMUST00000062108
AA Change: 79
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: 79
| 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
|
| 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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
99% (97/98) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| A630001G21Rik |
C |
T |
1: 85,646,761 (GRCm39) |
V167M |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,948,697 (GRCm39) |
F138L |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,681 (GRCm39) |
V519A |
possibly damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,631,310 (GRCm39) |
Y558* |
probably null |
Het |
| Atxn3 |
T |
A |
12: 101,914,638 (GRCm39) |
S29C |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,796,788 (GRCm39) |
|
probably benign |
Het |
| Bicral |
A |
T |
17: 47,136,502 (GRCm39) |
I236N |
probably damaging |
Het |
| Cabcoco1 |
A |
G |
10: 68,377,599 (GRCm39) |
V30A |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,684,497 (GRCm39) |
M1V |
probably null |
Het |
| Ccdc153 |
T |
C |
9: 44,152,305 (GRCm39) |
M1T |
probably null |
Het |
| Ccnf |
A |
T |
17: 24,449,311 (GRCm39) |
V489D |
probably damaging |
Het |
| Cdin1 |
A |
C |
2: 115,500,539 (GRCm39) |
H159P |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,935,520 (GRCm39) |
T448A |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,814 (GRCm39) |
D371N |
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,402 (GRCm39) |
Y221F |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,448,635 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,803,872 (GRCm39) |
N1070K |
probably benign |
Het |
| Dipk2a |
C |
T |
9: 94,419,630 (GRCm39) |
R100H |
probably damaging |
Het |
| Dmwd |
A |
T |
7: 18,814,472 (GRCm39) |
D374V |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,831,475 (GRCm39) |
A189S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,703,138 (GRCm39) |
V1629A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,842,225 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,990,471 (GRCm39) |
D1075G |
unknown |
Het |
| Fsip2 |
A |
G |
2: 82,805,202 (GRCm39) |
N507S |
possibly damaging |
Het |
| Gabra5 |
T |
G |
7: 57,063,413 (GRCm39) |
E337A |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,490,841 (GRCm39) |
Y288H |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,858,401 (GRCm39) |
D65V |
probably benign |
Het |
| Hmgxb3 |
A |
T |
18: 61,279,606 (GRCm39) |
C736S |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,960 (GRCm39) |
I121N |
probably damaging |
Het |
| Il16 |
A |
C |
7: 83,322,302 (GRCm39) |
S338A |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,459,867 (GRCm39) |
A2054T |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,474,220 (GRCm39) |
I385F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,039,270 (GRCm39) |
V66I |
possibly damaging |
Het |
| Lmod2 |
A |
G |
6: 24,604,278 (GRCm39) |
R418G |
probably benign |
Het |
| Ly6g6c |
A |
T |
17: 35,288,416 (GRCm39) |
D96V |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 80,950,947 (GRCm39) |
V131M |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,745,152 (GRCm39) |
V22A |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,894 (GRCm39) |
I177T |
probably damaging |
Het |
| Mob4 |
C |
T |
1: 55,191,995 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,372,286 (GRCm39) |
N781K |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,358,853 (GRCm39) |
I1113V |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,384,405 (GRCm39) |
T707A |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,287,234 (GRCm39) |
A383T |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,715,915 (GRCm39) |
S761P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,181,161 (GRCm39) |
S921T |
possibly damaging |
Het |
| Omp |
A |
T |
7: 97,794,233 (GRCm39) |
D131E |
probably benign |
Het |
| Or10d1c |
A |
T |
9: 38,893,922 (GRCm39) |
C139* |
probably null |
Het |
| Or4f7d-ps1 |
C |
G |
2: 111,675,040 (GRCm39) |
|
noncoding transcript |
Het |
| Or8d4 |
C |
T |
9: 40,038,514 (GRCm39) |
V248I |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 128,287,950 (GRCm39) |
|
probably benign |
Het |
| Parg |
A |
G |
14: 31,993,625 (GRCm39) |
T286A |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,396,600 (GRCm39) |
M1K |
probably null |
Het |
| Pclo |
T |
A |
5: 14,861,694 (GRCm39) |
S4882R |
unknown |
Het |
| Pcnx2 |
C |
T |
8: 126,498,847 (GRCm39) |
E1551K |
probably damaging |
Het |
| Pcyox1l |
A |
G |
18: 61,832,565 (GRCm39) |
Y161H |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,289,236 (GRCm39) |
C721* |
probably null |
Het |
| Piwil4 |
T |
C |
9: 14,651,761 (GRCm39) |
D90G |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,708,129 (GRCm39) |
C306S |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,083 (GRCm39) |
F6I |
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,203,886 (GRCm39) |
M265T |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,104,212 (GRCm39) |
V1230A |
probably benign |
Het |
| Rfx2 |
T |
C |
17: 57,091,706 (GRCm39) |
E329G |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,413,636 (GRCm39) |
I322M |
probably damaging |
Het |
| Scly |
T |
A |
1: 91,247,850 (GRCm39) |
N399K |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,428,281 (GRCm39) |
|
probably null |
Het |
| Sephs2 |
A |
T |
7: 126,872,219 (GRCm39) |
Y291* |
probably null |
Het |
| Slc45a3 |
T |
C |
1: 131,909,285 (GRCm39) |
I494T |
possibly damaging |
Het |
| Slc6a21 |
C |
A |
7: 44,929,535 (GRCm39) |
Y76* |
probably null |
Het |
| Slfn14 |
T |
A |
11: 83,167,098 (GRCm39) |
I806L |
possibly damaging |
Het |
| Slfn4 |
T |
A |
11: 83,077,844 (GRCm39) |
S211T |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,071,577 (GRCm39) |
V1624A |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,523,834 (GRCm39) |
M567K |
probably damaging |
Het |
| Tmem121 |
A |
T |
12: 113,152,348 (GRCm39) |
M189L |
probably benign |
Het |
| Tmem201 |
A |
G |
4: 149,806,727 (GRCm39) |
S444P |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,800,751 (GRCm39) |
V744A |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,717,380 (GRCm39) |
S2358F |
unknown |
Het |
| Ubash3b |
A |
G |
9: 40,929,405 (GRCm39) |
V404A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,656,821 (GRCm39) |
C1127S |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,145,042 (GRCm39) |
V253A |
probably benign |
Het |
| Vmn1r-ps123 |
C |
T |
13: 23,180,535 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr74 |
A |
G |
19: 8,716,849 (GRCm39) |
E253G |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,174,988 (GRCm39) |
Y107H |
probably damaging |
Het |
| Zdhhc22 |
A |
T |
12: 87,035,012 (GRCm39) |
Y147N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,250,491 (GRCm39) |
H44R |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,840,384 (GRCm39) |
T268A |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,206,140 (GRCm39) |
|
probably benign |
Het |
| Zfp358 |
T |
C |
8: 3,546,170 (GRCm39) |
S251P |
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 |
|
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 |
|
|
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'- TCTGGCCCATCAGAAGATCAC -3'
(R):5'- AATCAAAGAGGGCTTCTCGG -3'
Sequencing Primer
(F):5'- ACACGCATCCTGGACTTTGG -3'
(R):5'- GCTTCTCGGAAAAGGTTGTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation