Incidental Mutation 'R4879:Ikbke'
| ID |
375100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
042488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4879 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCC to G
at 131203004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000159195]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062108
AA Change: 79
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: 79
| 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 null
Transcript: ENSMUST00000159195
|
| SMART Domains |
Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349
| 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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163029
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
97% (86/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,526 (GRCm39) |
Y541F |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,911,083 (GRCm39) |
V136E |
probably benign |
Het |
| Aftph |
A |
G |
11: 20,648,311 (GRCm39) |
|
probably null |
Het |
| Ambra1 |
C |
T |
2: 91,603,039 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,690,415 (GRCm39) |
D73G |
probably benign |
Het |
| Asap3 |
G |
A |
4: 135,969,975 (GRCm39) |
D778N |
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,245,918 (GRCm39) |
Y591* |
probably null |
Het |
| Blk |
T |
C |
14: 63,613,414 (GRCm39) |
T365A |
probably benign |
Het |
| C4b |
G |
T |
17: 34,962,621 (GRCm39) |
S27Y |
probably damaging |
Het |
| C6 |
G |
T |
15: 4,833,129 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
T |
A |
9: 57,974,839 (GRCm39) |
I345F |
possibly damaging |
Het |
| Cetn3 |
T |
A |
13: 81,940,268 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,244,389 (GRCm39) |
I387L |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,984 (GRCm39) |
C102R |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,456,321 (GRCm39) |
I789T |
probably benign |
Het |
| Cyp2c55 |
CA |
C |
19: 39,030,522 (GRCm39) |
|
probably null |
Het |
| Defa40 |
T |
A |
8: 21,740,380 (GRCm39) |
L62Q |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,022,534 (GRCm39) |
A1624V |
probably damaging |
Het |
| Dnah1 |
T |
G |
14: 31,022,705 (GRCm39) |
E1144A |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,201 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,367,517 (GRCm39) |
T1794I |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,953,019 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,971,282 (GRCm39) |
M778K |
probably benign |
Het |
| Fbxw10 |
G |
T |
11: 62,738,573 (GRCm39) |
A156S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,460,805 (GRCm39) |
F2632Y |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,534,628 (GRCm39) |
K160E |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,943,029 (GRCm39) |
K295E |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,370,119 (GRCm39) |
C465* |
probably null |
Het |
| Hoxb4 |
A |
G |
11: 96,211,014 (GRCm39) |
I205V |
probably damaging |
Het |
| Il36a |
A |
G |
2: 24,106,032 (GRCm39) |
N29S |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,011 (GRCm39) |
S292G |
probably benign |
Het |
| Itgb5 |
G |
C |
16: 33,696,348 (GRCm39) |
G180R |
probably damaging |
Het |
| Josd1-ps |
T |
C |
7: 27,648,768 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnip4 |
T |
C |
5: 48,567,207 (GRCm39) |
D120G |
possibly damaging |
Het |
| Kin |
A |
G |
2: 10,085,455 (GRCm39) |
D5G |
probably benign |
Het |
| Lrrtm2 |
C |
A |
18: 35,346,372 (GRCm39) |
G310V |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,186 (GRCm39) |
|
probably benign |
Het |
| Mepce |
C |
A |
5: 137,783,544 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
T |
A |
9: 108,691,114 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,937 (GRCm39) |
Q866L |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,183,962 (GRCm39) |
T3S |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,040 (GRCm39) |
H65Q |
possibly damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,107 (GRCm39) |
C241* |
probably null |
Het |
| Orai1 |
T |
C |
5: 123,149,894 (GRCm39) |
|
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,089 (GRCm39) |
C24Y |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,613,959 (GRCm39) |
D635N |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,375,322 (GRCm39) |
I567V |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,328,390 (GRCm39) |
S485P |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,087 (GRCm39) |
Y356C |
probably damaging |
Het |
| Sdcbp |
T |
C |
4: 6,381,056 (GRCm39) |
I67T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,679 (GRCm39) |
I537T |
probably benign |
Het |
| Slc66a1 |
A |
T |
4: 139,029,095 (GRCm39) |
|
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,974 (GRCm39) |
C442R |
probably damaging |
Het |
| Smpd5 |
A |
G |
15: 76,179,070 (GRCm39) |
H146R |
possibly damaging |
Het |
| Snai2 |
A |
G |
16: 14,524,605 (GRCm39) |
Y37C |
probably benign |
Het |
| Snapc4 |
C |
T |
2: 26,256,004 (GRCm39) |
S840N |
possibly damaging |
Het |
| Stpg2 |
T |
C |
3: 138,921,134 (GRCm39) |
I113T |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 55,925,125 (GRCm39) |
|
probably null |
Het |
| Tfg |
A |
T |
16: 56,521,520 (GRCm39) |
S39R |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,116,236 (GRCm39) |
S1330T |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,321 (GRCm39) |
T322A |
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,888,691 (GRCm39) |
Y291C |
probably damaging |
Het |
| Trcg1 |
A |
G |
9: 57,154,003 (GRCm39) |
D658G |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,782,304 (GRCm39) |
V143I |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,084 (GRCm39) |
K1691E |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,908,562 (GRCm39) |
M77K |
possibly damaging |
Het |
| Tubb2a |
A |
T |
13: 34,258,572 (GRCm39) |
M406K |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,717,751 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
C |
A |
5: 87,479,144 (GRCm39) |
R268L |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,323,410 (GRCm39) |
M982R |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,102 (GRCm39) |
K370N |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,739,355 (GRCm39) |
|
probably benign |
Het |
| Vps11 |
A |
C |
9: 44,264,597 (GRCm39) |
C660G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,926,338 (GRCm39) |
H1137R |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,188,322 (GRCm39) |
Y193H |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,009,444 (GRCm39) |
V470D |
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 |
|
|
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'- TCTGGCCCATCAGAAGATCAC -3'
(R):5'- CCAATCAAAGAGGGCTTCTCGG -3'
Sequencing Primer
(F):5'- ACACGCATCCTGGACTTTGG -3'
(R):5'- GCTTCTCGGAAAAGGTTGTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation