Incidental Mutation 'R1763:Ikbke'
| ID |
193156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikbke
|
| Ensembl Gene |
ENSMUSG00000042349 |
| Gene Name |
inhibitor of kappaB kinase epsilon |
| Synonyms |
IKKepsilon, IKK-i |
| MMRRC Submission |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131182337-131207339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131193614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 479
(T479A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062108]
[ENSMUST00000161764]
|
| AlphaFold |
Q9R0T8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062108
AA Change: T503A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: T503A
| 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 benign
Transcript: ENSMUST00000161764
AA Change: T479A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: T479A
| 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
|
| Meta Mutation Damage Score |
0.0586 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,396,529 (GRCm39) |
V401A |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,904,330 (GRCm39) |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,957,479 (GRCm39) |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,765,683 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 66,797,463 (GRCm39) |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,214,150 (GRCm39) |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,215 (GRCm39) |
F321I |
probably benign |
Het |
| Atp5pb |
A |
G |
3: 105,858,905 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,803,060 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,821,153 (GRCm39) |
V1121A |
probably benign |
Het |
| Cad |
G |
A |
5: 31,218,295 (GRCm39) |
V460I |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,744,619 (GRCm39) |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,393,795 (GRCm39) |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,727,143 (GRCm39) |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,187 (GRCm39) |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 62,749,000 (GRCm39) |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,872,388 (GRCm39) |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,879,025 (GRCm39) |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,794,263 (GRCm39) |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,401,841 (GRCm39) |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,424,045 (GRCm39) |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,947,535 (GRCm39) |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,686,497 (GRCm39) |
G15R |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,474,822 (GRCm39) |
V268L |
probably benign |
Het |
| F2 |
A |
C |
2: 91,465,251 (GRCm39) |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,329,832 (GRCm39) |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,940,396 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Gabbr1 |
T |
G |
17: 37,365,659 (GRCm39) |
S158A |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,200,525 (GRCm39) |
N295S |
probably damaging |
Het |
| Gm6408 |
A |
T |
5: 146,419,132 (GRCm39) |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,866 (GRCm39) |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,204,602 (GRCm39) |
D59G |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,876,553 (GRCm39) |
|
probably null |
Het |
| Ifi27l2a |
C |
T |
12: 103,403,941 (GRCm39) |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,343 (GRCm39) |
N329S |
probably damaging |
Het |
| Krt12 |
T |
A |
11: 99,306,886 (GRCm39) |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,743,025 (GRCm39) |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,401 (GRCm39) |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,039,917 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,004,852 (GRCm39) |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,225,402 (GRCm39) |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,888,408 (GRCm39) |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,366,644 (GRCm39) |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,759,087 (GRCm39) |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,614 (GRCm39) |
S1733T |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,321 (GRCm39) |
F102L |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,780 (GRCm39) |
I211V |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,711,473 (GRCm39) |
G101E |
probably damaging |
Het |
| Or6z1 |
T |
G |
7: 6,504,440 (GRCm39) |
I262L |
probably benign |
Het |
| Or8b44 |
A |
G |
9: 38,410,334 (GRCm39) |
Y123C |
probably damaging |
Het |
| Paqr7 |
A |
T |
4: 134,234,409 (GRCm39) |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,019,543 (GRCm39) |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,620,911 (GRCm39) |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,179,028 (GRCm39) |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,886,340 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,368 (GRCm39) |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,841,566 (GRCm39) |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,980,863 (GRCm39) |
R154Q |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,178,628 (GRCm39) |
D1449G |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 44,990,044 (GRCm39) |
R708* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,181,254 (GRCm39) |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,162,041 (GRCm39) |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,158 (GRCm39) |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,758,457 (GRCm39) |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,890,373 (GRCm39) |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,503,744 (GRCm39) |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,662,518 (GRCm39) |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,735,856 (GRCm39) |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,229,565 (GRCm39) |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,196,116 (GRCm39) |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,522,266 (GRCm39) |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,102,243 (GRCm39) |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,350,909 (GRCm39) |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,594,801 (GRCm39) |
L388P |
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 |
|
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'- AGCATCATCACACAGACAGTGGGG -3'
(R):5'- CATCAGTGTGCTACTGGTTGTCAGG -3'
Sequencing Primer
(F):5'- GGTCCCGGTTCTTTAAAAGC -3'
(R):5'- gtttcaacctacttcaactttcattc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation