Incidental Mutation 'R9176:Ikbke'
| ID |
696651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131191025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 563
(S563T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062108
AA Change: S563T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: S563T
| 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: ENSMUST00000161764
AA Change: S539T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: S539T
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,004 (GRCm39) |
D119G |
probably damaging |
Het |
| 1700123K08Rik |
T |
C |
5: 138,561,155 (GRCm39) |
D169G |
probably damaging |
Het |
| Abcd2 |
T |
G |
15: 91,075,623 (GRCm39) |
R63S |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,852,248 (GRCm39) |
Y678H |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,010,852 (GRCm39) |
V1750E |
possibly damaging |
Het |
| Cd300ld2 |
C |
A |
11: 114,904,772 (GRCm39) |
E32* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,076,442 (GRCm39) |
L423Q |
probably damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,127 (GRCm39) |
T90A |
probably damaging |
Het |
| Cmpk2 |
T |
A |
12: 26,524,027 (GRCm39) |
S275T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,620,730 (GRCm39) |
N936K |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
T |
1: 82,463,349 (GRCm39) |
P1047Q |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,938,755 (GRCm39) |
L1321P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,297,892 (GRCm39) |
F211L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,864,937 (GRCm39) |
Q27R |
|
Het |
| Dapk1 |
T |
C |
13: 60,866,262 (GRCm39) |
V205A |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,586,158 (GRCm39) |
N729S |
probably benign |
Het |
| Derl2 |
A |
G |
11: 70,904,376 (GRCm39) |
V139A |
possibly damaging |
Het |
| Dscam |
C |
T |
16: 96,486,553 (GRCm39) |
D1041N |
probably benign |
Het |
| Fbxo2 |
A |
T |
4: 148,250,147 (GRCm39) |
R226W |
probably damaging |
Het |
| Fhip1b |
A |
C |
7: 105,030,585 (GRCm39) |
H180Q |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,826,540 (GRCm39) |
K183E |
probably benign |
Het |
| Gpr19 |
A |
G |
6: 134,846,718 (GRCm39) |
S322P |
probably damaging |
Het |
| Gvin2 |
T |
C |
7: 105,551,262 (GRCm39) |
K597E |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,636,663 (GRCm39) |
N793S |
probably benign |
Het |
| Il1r2 |
T |
C |
1: 40,144,478 (GRCm39) |
L55P |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Lims1 |
T |
G |
10: 58,254,265 (GRCm39) |
C340G |
probably damaging |
Het |
| Loxl3 |
G |
A |
6: 83,026,292 (GRCm39) |
C460Y |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,763,565 (GRCm39) |
L152* |
probably null |
Het |
| Mef2d |
T |
C |
3: 88,066,463 (GRCm39) |
V144A |
possibly damaging |
Het |
| Mertk |
A |
G |
2: 128,620,892 (GRCm39) |
D578G |
possibly damaging |
Het |
| Mettl1 |
C |
A |
10: 126,881,250 (GRCm39) |
Q254K |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,707 (GRCm39) |
E443G |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,241 (GRCm39) |
F484L |
probably damaging |
Het |
| Neurl1b |
C |
T |
17: 26,660,055 (GRCm39) |
T425I |
possibly damaging |
Het |
| Nomo1 |
G |
A |
7: 45,730,828 (GRCm39) |
V1104M |
possibly damaging |
Het |
| Or13a19 |
G |
T |
7: 139,903,121 (GRCm39) |
G170C |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,850 (GRCm39) |
Y135* |
probably null |
Het |
| Or4c10b |
T |
C |
2: 89,711,515 (GRCm39) |
V115A |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,600 (GRCm39) |
M43V |
probably benign |
Het |
| Or5p57 |
A |
G |
7: 107,665,246 (GRCm39) |
V223A |
probably benign |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Or9i2 |
A |
G |
19: 13,815,796 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,873,274 (GRCm39) |
K1173E |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,697,623 (GRCm39) |
N477K |
probably damaging |
Het |
| Plekha7 |
T |
G |
7: 115,739,926 (GRCm39) |
I812L |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,941,651 (GRCm39) |
T1711A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Pomt2 |
T |
A |
12: 87,194,451 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,316,123 (GRCm39) |
H671R |
probably damaging |
Het |
| Prkca |
G |
A |
11: 107,870,244 (GRCm39) |
R15C |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,746,968 (GRCm39) |
N282K |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,249 (GRCm39) |
R385G |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,841,455 (GRCm39) |
M87K |
probably damaging |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,103,689 (GRCm39) |
V1857E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,036,320 (GRCm39) |
T386A |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,598,229 (GRCm39) |
L94P |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,236,728 (GRCm39) |
N90D |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,363 (GRCm39) |
T584A |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,031,553 (GRCm39) |
N1124D |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,130,481 (GRCm39) |
T196S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,974,128 (GRCm39) |
E968G |
probably benign |
Het |
| Zbtb8a |
G |
T |
4: 129,254,221 (GRCm39) |
T91K |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,559,163 (GRCm39) |
V459E |
probably damaging |
Het |
| Zfp790 |
A |
G |
7: 29,529,387 (GRCm39) |
T691A |
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 |
|
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 |
|
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'- TCTCTCAGTGGCCTACAGAC -3'
(R):5'- GGCTCTTTTACCCAGTCCAGAC -3'
Sequencing Primer
(F):5'- TCTCAGTGGCCTACAGACAATGTG -3'
(R):5'- CTATAATAGAGACAGAAGGCTTGGTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation