Incidental Mutation 'R1794:Ikbke'
| ID |
202010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
039824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1794 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131186955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 579
(Y579F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062108
AA Change: Y603F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: Y603F
| 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 |
probably damaging
Transcript: ENSMUST00000161764
AA Change: Y579F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: Y579F
| 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: ENSMUST00000163029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188115
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
| Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
| Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
| Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,845,594 (GRCm39) |
Q288K |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
| Dis3l |
A |
C |
9: 64,225,058 (GRCm39) |
V413G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,087,973 (GRCm39) |
S40P |
probably benign |
Het |
| Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
| Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
| Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
| Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
| Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
| Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
| Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
| Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
| Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
| Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
| Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
| Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,790,924 (GRCm39) |
M178K |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,458,728 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
| Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
| Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
| Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
| Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
probably 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 |
|
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'- ACCGGCCACCGTTTCTATAC -3'
(R):5'- TAGGACCCAAGTGTATGGTCATC -3'
Sequencing Primer
(F):5'- ACTAGGTCCTCTCTTACTGAGCAGAG -3'
(R):5'- GACCCAAGTGTATGGTCATCCTCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation