Incidental Mutation 'R6899:Ikbke'
ID |
540997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikbke
|
Ensembl Gene |
ENSMUSG00000042349 |
Gene Name |
inhibitor of kappaB kinase epsilon |
Synonyms |
IKKepsilon, IKK-i |
MMRRC Submission |
044993-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6899 (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 G
at 131203499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 58
(V58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
AlphaFold |
Q9R0T8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062108
AA Change: V58A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000054126 Gene: ENSMUSG00000042349 AA Change: V58A
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 damaging
Transcript: ENSMUST00000159195
AA Change: V58A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124486 Gene: ENSMUSG00000042349 AA Change: V58A
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 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 |
|
Meta Mutation Damage Score |
0.1831 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.9%
|
Validation Efficiency |
98% (56/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,126,264 (GRCm39) |
Y1140C |
probably damaging |
Het |
Actl9 |
G |
A |
17: 33,652,533 (GRCm39) |
G198S |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 69,130,500 (GRCm39) |
M129K |
probably damaging |
Het |
Apmap |
T |
A |
2: 150,436,228 (GRCm39) |
I107F |
probably benign |
Het |
Arrdc3 |
T |
C |
13: 81,037,330 (GRCm39) |
I162T |
probably damaging |
Het |
Asprv1 |
T |
C |
6: 86,605,742 (GRCm39) |
L196P |
probably damaging |
Het |
Atpsckmt |
A |
G |
15: 31,617,257 (GRCm39) |
S163G |
probably benign |
Het |
Bag2 |
A |
G |
1: 33,785,912 (GRCm39) |
S137P |
possibly damaging |
Het |
Borcs5 |
T |
A |
6: 134,687,173 (GRCm39) |
M177K |
probably benign |
Het |
C8b |
A |
T |
4: 104,644,071 (GRCm39) |
K246M |
probably benign |
Het |
Cdo1 |
A |
G |
18: 46,856,407 (GRCm39) |
C76R |
probably damaging |
Het |
Ces2b |
T |
A |
8: 105,563,398 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,224,902 (GRCm39) |
S194N |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,840,907 (GRCm39) |
F77L |
probably benign |
Het |
Dars1 |
A |
G |
1: 128,341,483 (GRCm39) |
V44A |
possibly damaging |
Het |
Dhtkd1 |
T |
A |
2: 5,922,776 (GRCm39) |
D461V |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,530,396 (GRCm39) |
H345Q |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,214,729 (GRCm39) |
S604T |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gramd1c |
T |
A |
16: 43,860,505 (GRCm39) |
Y64F |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,110,938 (GRCm39) |
Y970F |
probably benign |
Het |
Hoxc10 |
A |
G |
15: 102,875,942 (GRCm39) |
E217G |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,212,352 (GRCm39) |
H128L |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ifna9 |
A |
G |
4: 88,510,300 (GRCm39) |
F108S |
probably damaging |
Het |
Inpp5e |
G |
A |
2: 26,290,060 (GRCm39) |
R462C |
possibly damaging |
Het |
Junb |
A |
G |
8: 85,704,353 (GRCm39) |
F236L |
probably benign |
Het |
Klhl36 |
T |
C |
8: 120,596,881 (GRCm39) |
V194A |
probably benign |
Het |
Lsg1 |
A |
T |
16: 30,400,906 (GRCm39) |
D134E |
probably benign |
Het |
Megf8 |
G |
T |
7: 25,060,138 (GRCm39) |
C2343F |
probably damaging |
Het |
Mtres1 |
T |
C |
10: 43,408,780 (GRCm39) |
E121G |
possibly damaging |
Het |
Myom3 |
G |
A |
4: 135,530,603 (GRCm39) |
G1172R |
probably damaging |
Het |
Nasp |
A |
T |
4: 116,461,530 (GRCm39) |
V548E |
probably damaging |
Het |
Nubpl |
T |
A |
12: 52,357,536 (GRCm39) |
S317T |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,075,204 (GRCm39) |
D838G |
possibly damaging |
Het |
Oxsr1 |
C |
T |
9: 119,076,188 (GRCm39) |
A373T |
probably benign |
Het |
Psat1 |
C |
T |
19: 15,895,569 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Slain1 |
C |
T |
14: 103,888,215 (GRCm39) |
P45L |
possibly damaging |
Het |
Slc16a8 |
A |
G |
15: 79,137,949 (GRCm39) |
V20A |
possibly damaging |
Het |
Slc22a13 |
A |
T |
9: 119,025,473 (GRCm39) |
M145K |
probably damaging |
Het |
Slc22a4 |
G |
A |
11: 53,879,739 (GRCm39) |
T440I |
probably damaging |
Het |
Slc39a12 |
C |
T |
2: 14,394,352 (GRCm39) |
P74L |
probably damaging |
Het |
Sod3 |
A |
G |
5: 52,526,050 (GRCm39) |
T250A |
unknown |
Het |
Syne2 |
A |
G |
12: 76,142,503 (GRCm39) |
|
probably null |
Het |
Tctn1 |
A |
G |
5: 122,387,019 (GRCm39) |
Y299H |
probably damaging |
Het |
Tfcp2l1 |
A |
G |
1: 118,603,305 (GRCm39) |
M448V |
probably benign |
Het |
Tfpi |
C |
T |
2: 84,275,153 (GRCm39) |
G152S |
probably damaging |
Het |
Thap4 |
A |
G |
1: 93,678,691 (GRCm39) |
S32P |
probably damaging |
Het |
Tmem132c |
T |
A |
5: 127,628,744 (GRCm39) |
W549R |
probably damaging |
Het |
Vmn2r29 |
T |
C |
7: 7,244,641 (GRCm39) |
E411G |
probably damaging |
Het |
Washc4 |
C |
A |
10: 83,411,919 (GRCm39) |
D683E |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,057,217 (GRCm39) |
V462D |
possibly damaging |
Het |
Wdr5b |
T |
C |
16: 35,862,150 (GRCm39) |
S90P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,579,559 (GRCm39) |
L518P |
possibly damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,707 (GRCm39) |
I247V |
possibly 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 |
|
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 |
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'- TTCCACACCCTTGAGTGTGG -3'
(R):5'- GAAGAAAAGATTGCAGCTCCTC -3'
Sequencing Primer
(F):5'- GTGGTGCTTGGTCCCTCC -3'
(R):5'- ATTGCAGCTCCTCAATAGGG -3'
|
Posted On |
2018-11-28 |