Incidental Mutation 'R9643:Ikbke'
| ID |
726626 |
| 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 # |
R9643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 131187022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062108
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,211,189 (GRCm39) |
D641G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,666 (GRCm39) |
E272G |
unknown |
Het |
| Abca16 |
C |
T |
7: 120,065,023 (GRCm39) |
T560I |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,259,455 (GRCm39) |
R911G |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,612,031 (GRCm39) |
T1327A |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,904 (GRCm39) |
V272A |
possibly damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,167 (GRCm39) |
H193L |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,116 (GRCm39) |
R280G |
probably benign |
Het |
| Atg14 |
G |
T |
14: 47,788,780 (GRCm39) |
A191E |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,112,960 (GRCm39) |
P1165Q |
possibly damaging |
Het |
| Cdk8 |
G |
A |
5: 146,235,664 (GRCm39) |
A264T |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,406,150 (GRCm39) |
Q1461* |
probably null |
Het |
| Cep170b |
G |
T |
12: 112,704,045 (GRCm39) |
W659L |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,597,626 (GRCm39) |
E335G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,303,229 (GRCm39) |
T609S |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,512 (GRCm39) |
I359F |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,013,742 (GRCm39) |
N272K |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,984 (GRCm39) |
T5906A |
possibly damaging |
Het |
| Gin1 |
A |
T |
1: 97,712,498 (GRCm39) |
R220S |
probably benign |
Het |
| Gm30083 |
T |
C |
14: 33,736,861 (GRCm39) |
Y32C |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,994,083 (GRCm39) |
E445G |
unknown |
Het |
| Golga2 |
T |
C |
2: 32,193,874 (GRCm39) |
S567P |
probably damaging |
Het |
| Gpr89 |
A |
G |
3: 96,780,813 (GRCm39) |
V353A |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,506,948 (GRCm39) |
K509R |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,319 (GRCm39) |
I904T |
probably damaging |
Het |
| Il1r1 |
T |
A |
1: 40,341,532 (GRCm39) |
C315S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,730 (GRCm39) |
F135I |
possibly damaging |
Het |
| Jakmip3 |
C |
T |
7: 138,621,915 (GRCm39) |
L272F |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,440 (GRCm39) |
F1937Y |
probably damaging |
Het |
| Krtap4-16 |
G |
A |
11: 99,742,271 (GRCm39) |
T43I |
unknown |
Het |
| Lats2 |
A |
G |
14: 57,936,875 (GRCm39) |
V538A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,907 (GRCm39) |
W1597R |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,014,025 (GRCm39) |
T273S |
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,047,106 (GRCm39) |
E81D |
probably benign |
Het |
| Or13c7 |
G |
A |
4: 43,855,183 (GRCm39) |
M291I |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,517 (GRCm39) |
I43K |
probably damaging |
Het |
| Or56a41 |
A |
G |
7: 104,740,445 (GRCm39) |
F134L |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,912 (GRCm39) |
I13M |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,408 (GRCm39) |
F106S |
probably benign |
Het |
| Oxsm |
T |
C |
14: 16,241,000 (GRCm38) |
T350A |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,900 (GRCm39) |
R663Q |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,479,335 (GRCm39) |
I482N |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,655,501 (GRCm39) |
D562N |
probably damaging |
Het |
| Pdzk1ip1 |
T |
C |
4: 114,950,177 (GRCm39) |
M146T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,660,747 (GRCm39) |
T279S |
|
Het |
| Plec |
C |
T |
15: 76,058,177 (GRCm39) |
R3920Q |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,774,631 (GRCm39) |
V84E |
probably damaging |
Het |
| Ppm1m |
C |
T |
9: 106,075,104 (GRCm39) |
R147H |
probably damaging |
Het |
| Ppp2r2c |
G |
T |
5: 37,080,383 (GRCm39) |
V48L |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,521,855 (GRCm39) |
C490* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,524,598 (GRCm39) |
T18S |
probably benign |
Het |
| Rapsn |
A |
G |
2: 90,872,268 (GRCm39) |
S201G |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,012,998 (GRCm39) |
T332A |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,342 (GRCm39) |
D34G |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,079,303 (GRCm39) |
T130A |
probably benign |
Het |
| Setd1b |
G |
A |
5: 123,298,401 (GRCm39) |
G1479D |
probably damaging |
Het |
| Shd |
T |
A |
17: 56,283,268 (GRCm39) |
L299Q |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,945,896 (GRCm39) |
V55I |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,755,933 (GRCm39) |
R2405L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,686,392 (GRCm39) |
M332L |
|
Het |
| Tedc2 |
A |
G |
17: 24,435,328 (GRCm39) |
C354R |
probably benign |
Het |
| Tek |
A |
T |
4: 94,692,523 (GRCm39) |
R210S |
possibly damaging |
Het |
| Tnk2 |
T |
A |
16: 32,489,018 (GRCm39) |
M286K |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,771,686 (GRCm39) |
V162I |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,042,170 (GRCm39) |
C2217S |
possibly damaging |
Het |
| Wdr72 |
C |
T |
9: 74,118,041 (GRCm39) |
P930S |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,456,812 (GRCm39) |
V1308A |
unknown |
Het |
| Zfp521 |
C |
T |
18: 13,978,922 (GRCm39) |
R497Q |
probably damaging |
Het |
| Zfp799 |
T |
A |
17: 33,039,435 (GRCm39) |
K277M |
probably damaging |
Het |
| Zfp949 |
C |
T |
9: 88,436,500 (GRCm39) |
|
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 |
|
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 |
|
X0026:Ikbke
|
UTSW |
1 |
131,185,723 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCCATGTTTTGCAGTCTG -3'
(R):5'- TCCTTATTGGTACACGTGGC -3'
Sequencing Primer
(F):5'- CAAGGTCCTCTGTAGTATGGAAACC -3'
(R):5'- ACACGTGGCTTTTTCTGGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation