Incidental Mutation 'R1720:Ikbke'
| ID |
191342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
039752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131186947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 582
(S582P)
|
| 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: S606P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: S606P
| 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 |
possibly damaging
Transcript: ENSMUST00000161764
AA Change: S582P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: S582P
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,655 (GRCm39) |
D413G |
probably benign |
Het |
| Actr5 |
G |
T |
2: 158,478,057 (GRCm39) |
V476F |
possibly damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,637,125 (GRCm39) |
D426N |
probably benign |
Het |
| Adra1a |
T |
C |
14: 66,875,727 (GRCm39) |
L234P |
probably damaging |
Het |
| Akap9 |
G |
T |
5: 4,022,791 (GRCm39) |
V1207L |
possibly damaging |
Het |
| Anapc2 |
A |
G |
2: 25,164,724 (GRCm39) |
D36G |
probably benign |
Het |
| Apol8 |
A |
G |
15: 77,633,566 (GRCm39) |
S337P |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,585,492 (GRCm39) |
D139V |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,227,746 (GRCm39) |
V1037E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,231 (GRCm39) |
F284L |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,618,448 (GRCm39) |
V141A |
probably damaging |
Het |
| C1qtnf6 |
A |
T |
15: 78,411,640 (GRCm39) |
F40Y |
probably damaging |
Het |
| Caskin2 |
G |
A |
11: 115,693,608 (GRCm39) |
H508Y |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,269,654 (GRCm39) |
I579F |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,917 (GRCm39) |
Y277C |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,105,956 (GRCm39) |
D947N |
probably damaging |
Het |
| Clint1 |
T |
A |
11: 45,778,237 (GRCm39) |
I126K |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,903,671 (GRCm39) |
G1640E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,149,371 (GRCm39) |
K119E |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,690,209 (GRCm39) |
Q964* |
probably null |
Het |
| Dnhd1 |
T |
C |
7: 105,343,035 (GRCm39) |
F1460L |
probably benign |
Het |
| Edc3 |
T |
C |
9: 57,655,462 (GRCm39) |
|
probably null |
Het |
| Edn1 |
A |
G |
13: 42,458,826 (GRCm39) |
E163G |
probably benign |
Het |
| Efl1 |
A |
T |
7: 82,332,929 (GRCm39) |
D317V |
possibly damaging |
Het |
| Elapor2 |
T |
G |
5: 9,478,407 (GRCm39) |
C424G |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,459,175 (GRCm39) |
Y430* |
probably null |
Het |
| Faap100 |
C |
T |
11: 120,265,407 (GRCm39) |
V490M |
probably damaging |
Het |
| Fuz |
G |
T |
7: 44,546,415 (GRCm39) |
G104W |
probably damaging |
Het |
| Greb1l |
C |
A |
18: 10,553,848 (GRCm39) |
H1616Q |
probably benign |
Het |
| Grm1 |
G |
T |
10: 10,622,538 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
G |
T |
7: 98,126,437 (GRCm39) |
A1098S |
probably benign |
Het |
| H1f0 |
T |
A |
15: 78,913,195 (GRCm39) |
S92T |
possibly damaging |
Het |
| Hbb-bt |
T |
A |
7: 103,463,083 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
G |
A |
16: 33,527,549 (GRCm39) |
A170T |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,049 (GRCm39) |
K578* |
probably null |
Het |
| Itga6 |
T |
A |
2: 71,650,510 (GRCm39) |
F185L |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,906,099 (GRCm39) |
D396E |
probably benign |
Het |
| Kif5b |
T |
C |
18: 6,213,427 (GRCm39) |
H687R |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,504,182 (GRCm39) |
N3709D |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,943,066 (GRCm39) |
K125* |
probably null |
Het |
| Lrif1 |
A |
T |
3: 106,640,452 (GRCm39) |
E512D |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,345,420 (GRCm39) |
Y142* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,880,060 (GRCm39) |
T1051A |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,916,582 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mro |
C |
T |
18: 74,009,806 (GRCm39) |
S159L |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,913,145 (GRCm39) |
D367E |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,490 (GRCm39) |
Q547R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,733 (GRCm39) |
I902M |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,394,711 (GRCm39) |
D771N |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,486 (GRCm39) |
I284V |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,664 (GRCm39) |
N63S |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,494 (GRCm39) |
S216P |
probably damaging |
Het |
| Or4e5 |
A |
C |
14: 52,728,051 (GRCm39) |
Y40* |
probably null |
Het |
| Or8b48 |
C |
T |
9: 38,492,585 (GRCm39) |
T4I |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,240 (GRCm39) |
Y136H |
probably damaging |
Het |
| Prdm6 |
C |
T |
18: 53,673,272 (GRCm39) |
S144L |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,522,155 (GRCm39) |
I599F |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,526,650 (GRCm39) |
C304* |
probably null |
Het |
| Rbp3 |
T |
C |
14: 33,678,866 (GRCm39) |
V938A |
probably benign |
Het |
| Rpp30 |
A |
G |
19: 36,071,827 (GRCm39) |
K132E |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,801,295 (GRCm39) |
V823E |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,886 (GRCm39) |
D146E |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,738,127 (GRCm39) |
V135E |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,874,344 (GRCm39) |
D23G |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,304,807 (GRCm39) |
T185S |
probably null |
Het |
| Slc23a1 |
A |
C |
18: 35,758,904 (GRCm39) |
C96G |
possibly damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,025,103 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
A |
G |
11: 97,662,435 (GRCm39) |
F146L |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,661,623 (GRCm39) |
L936Q |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,606 (GRCm39) |
Y224C |
probably damaging |
Het |
| Tpm4 |
T |
A |
8: 72,898,598 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,560,414 (GRCm39) |
E29329G |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,943,922 (GRCm39) |
I101V |
probably benign |
Het |
| Ube2o |
A |
T |
11: 116,435,433 (GRCm39) |
C452S |
probably benign |
Het |
| Uxs1 |
A |
T |
1: 43,804,081 (GRCm39) |
I278N |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,256,519 (GRCm39) |
F663L |
probably damaging |
Het |
| Wdfy3 |
CG |
C |
5: 102,074,391 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
A |
G |
1: 133,549,439 (GRCm39) |
S741P |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,436 (GRCm39) |
V272I |
possibly damaging |
Het |
| Zdhhc24 |
A |
G |
19: 4,928,979 (GRCm39) |
N68S |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,885,986 (GRCm39) |
L858* |
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 |
|
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 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Ikbke
|
UTSW |
1 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
131,193,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1762:Ikbke
|
UTSW |
1 |
131,197,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- AGGTCCTCTCTTACTGAGCAGAGC -3'
(R):5'- TCTCCCAGGGATCAAGTTGAGAGTG -3'
Sequencing Primer
(F):5'- AGAGCCCATGTTTTGCAGTC -3'
(R):5'- TCTGGGCTTTAGGACCCAAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation