Incidental Mutation 'R0427:Ikbke'
| ID |
38707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
038629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0427 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131185647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 620
(S620R)
|
| 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: S644R
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: S644R
| 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: S620R
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: S620R
| 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: ENSMUST00000188115
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,720 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
| BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
| Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
| Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
| Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,034 (GRCm39) |
Y698* |
probably null |
Het |
| Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
| Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
| Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
| Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,279 (GRCm39) |
V439A |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
| Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
| Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
| Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,891 (GRCm39) |
L1143P |
possibly damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
| Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
| Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
| Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,620,432 (GRCm39) |
V691A |
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
| Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
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 |
|
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 |
131,197,560 (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'- TCACATCTCAGGTGAGTCAGAGACC -3'
(R):5'- TGCCAGTAACCACATGAGTGACCC -3'
Sequencing Primer
(F):5'- TGAGTCAGAGACCTCCAGC -3'
(R):5'- ATTCACACGGGCAGTGTTAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation