Incidental Mutation 'R7388:Ep300'
ID |
573281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
045470-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7388 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81532567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1602
(C1602R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: C1602R
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: C1602R
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
28 |
N/A |
INTRINSIC |
low complexity region
|
162 |
178 |
N/A |
INTRINSIC |
low complexity region
|
223 |
242 |
N/A |
INTRINSIC |
low complexity region
|
296 |
309 |
N/A |
INTRINSIC |
ZnF_TAZ
|
333 |
418 |
2.85e-32 |
SMART |
low complexity region
|
475 |
488 |
N/A |
INTRINSIC |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
Pfam:KIX
|
567 |
647 |
7.2e-44 |
PFAM |
low complexity region
|
722 |
735 |
N/A |
INTRINSIC |
low complexity region
|
831 |
848 |
N/A |
INTRINSIC |
low complexity region
|
852 |
882 |
N/A |
INTRINSIC |
low complexity region
|
884 |
920 |
N/A |
INTRINSIC |
low complexity region
|
924 |
943 |
N/A |
INTRINSIC |
low complexity region
|
1024 |
1039 |
N/A |
INTRINSIC |
BROMO
|
1047 |
1157 |
6.36e-42 |
SMART |
Blast:KAT11
|
1227 |
1300 |
9e-22 |
BLAST |
KAT11
|
1305 |
1610 |
1.19e-140 |
SMART |
ZnF_ZZ
|
1663 |
1704 |
2.67e-15 |
SMART |
ZnF_TAZ
|
1728 |
1806 |
5.53e-30 |
SMART |
low complexity region
|
1810 |
1836 |
N/A |
INTRINSIC |
low complexity region
|
1847 |
1881 |
N/A |
INTRINSIC |
low complexity region
|
1902 |
1927 |
N/A |
INTRINSIC |
low complexity region
|
1962 |
1979 |
N/A |
INTRINSIC |
Pfam:Creb_binding
|
1993 |
2099 |
3.5e-37 |
PFAM |
low complexity region
|
2146 |
2158 |
N/A |
INTRINSIC |
low complexity region
|
2187 |
2203 |
N/A |
INTRINSIC |
low complexity region
|
2205 |
2244 |
N/A |
INTRINSIC |
low complexity region
|
2254 |
2265 |
N/A |
INTRINSIC |
low complexity region
|
2303 |
2346 |
N/A |
INTRINSIC |
low complexity region
|
2390 |
2405 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (63/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
T |
C |
18: 67,556,023 (GRCm39) |
E436G |
probably damaging |
Het |
Agbl5 |
T |
A |
5: 31,060,583 (GRCm39) |
L759* |
probably null |
Het |
Ankrd13b |
T |
C |
11: 77,363,583 (GRCm39) |
D460G |
probably benign |
Het |
Apol10a |
A |
G |
15: 77,373,225 (GRCm39) |
D287G |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,915,094 (GRCm39) |
Y391* |
probably null |
Het |
Asz1 |
G |
T |
6: 18,074,900 (GRCm39) |
S271R |
probably benign |
Het |
AW554918 |
A |
G |
18: 25,473,170 (GRCm39) |
N325D |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,082,579 (GRCm39) |
L247Q |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,036,850 (GRCm39) |
D1704G |
unknown |
Het |
Cdk5rap1 |
G |
A |
2: 154,202,595 (GRCm39) |
R212W |
probably damaging |
Het |
Cdkl2 |
T |
A |
5: 92,167,318 (GRCm39) |
T444S |
probably benign |
Het |
Cers2 |
T |
G |
3: 95,228,656 (GRCm39) |
F160V |
probably benign |
Het |
Cfap276 |
T |
C |
3: 108,450,815 (GRCm39) |
F86L |
possibly damaging |
Het |
Cga |
T |
A |
4: 34,907,076 (GRCm39) |
M99K |
probably benign |
Het |
Cspp1 |
C |
T |
1: 10,135,572 (GRCm39) |
R138* |
probably null |
Het |
Dao |
T |
G |
5: 114,153,273 (GRCm39) |
*133E |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,275,456 (GRCm39) |
C544S |
probably null |
Het |
Dgkq |
A |
T |
5: 108,806,112 (GRCm39) |
V98E |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,300 (GRCm39) |
T434S |
possibly damaging |
Het |
Dntt |
A |
G |
19: 41,027,418 (GRCm39) |
N162D |
probably benign |
Het |
Dpysl5 |
T |
C |
5: 30,902,805 (GRCm39) |
V79A |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,611,871 (GRCm39) |
L571P |
probably damaging |
Het |
Flrt3 |
C |
T |
2: 140,503,672 (GRCm39) |
|
probably null |
Het |
Gk2 |
A |
G |
5: 97,604,757 (GRCm39) |
V27A |
probably damaging |
Het |
Gnpat |
T |
G |
8: 125,614,553 (GRCm39) |
M663R |
probably benign |
Het |
Hc |
A |
T |
2: 34,874,859 (GRCm39) |
|
probably null |
Het |
Il12rb1 |
A |
G |
8: 71,263,271 (GRCm39) |
Y67C |
probably damaging |
Het |
Ints15 |
G |
A |
5: 143,297,600 (GRCm39) |
A149V |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,281,385 (GRCm39) |
D1229N |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,124,822 (GRCm39) |
T650A |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,419,766 (GRCm39) |
R948* |
probably null |
Het |
Map3k21 |
T |
C |
8: 126,654,336 (GRCm39) |
I385T |
probably damaging |
Het |
Mmrn1 |
T |
A |
6: 60,953,236 (GRCm39) |
S506T |
probably benign |
Het |
Nlrp1a |
A |
G |
11: 71,014,023 (GRCm39) |
F409S |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,455,892 (GRCm39) |
I896N |
probably benign |
Het |
Noxred1 |
C |
A |
12: 87,273,799 (GRCm39) |
V81L |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,645,272 (GRCm39) |
I1225F |
probably damaging |
Het |
Or2z2 |
C |
T |
11: 58,346,481 (GRCm39) |
C98Y |
probably damaging |
Het |
Otos |
T |
A |
1: 92,572,241 (GRCm39) |
|
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,706,103 (GRCm39) |
I399T |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,309,528 (GRCm39) |
V2807I |
not run |
Het |
Prrx2 |
A |
G |
2: 30,770,902 (GRCm39) |
E235G |
probably damaging |
Het |
Rab13 |
T |
C |
3: 90,128,327 (GRCm39) |
I41T |
probably damaging |
Het |
Rai1 |
A |
C |
11: 60,080,201 (GRCm39) |
T1422P |
possibly damaging |
Het |
Rcn1 |
C |
T |
2: 105,222,336 (GRCm39) |
V217M |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,518,998 (GRCm39) |
V408E |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,318,376 (GRCm39) |
A121T |
|
Het |
Slc35d1 |
A |
G |
4: 103,046,982 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
A |
T |
18: 24,717,106 (GRCm39) |
V642E |
probably damaging |
Het |
Slc6a19 |
G |
A |
13: 73,841,203 (GRCm39) |
A69V |
probably benign |
Het |
Spink6 |
A |
T |
18: 44,215,386 (GRCm39) |
T79S |
probably damaging |
Het |
Spire1 |
T |
C |
18: 67,652,950 (GRCm39) |
D170G |
probably damaging |
Het |
Sugp1 |
T |
C |
8: 70,505,269 (GRCm39) |
S79P |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,934,167 (GRCm39) |
Y201H |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,155,858 (GRCm39) |
|
probably null |
Het |
Tmem14a |
C |
T |
1: 21,299,735 (GRCm39) |
Q122* |
probably null |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trmt61a |
A |
G |
12: 111,645,321 (GRCm39) |
I86V |
possibly damaging |
Het |
Tubgcp4 |
G |
A |
2: 121,020,447 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
A |
7: 11,910,668 (GRCm39) |
Y183* |
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,202,742 (GRCm39) |
W112R |
probably benign |
Het |
Vpreb1a |
T |
C |
16: 16,686,516 (GRCm39) |
K125E |
probably benign |
Het |
Wdr6 |
A |
T |
9: 108,451,971 (GRCm39) |
F637L |
probably damaging |
Het |
|
Other mutations in Ep300 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Ep300
|
APN |
15 |
81,525,619 (GRCm39) |
missense |
unknown |
|
IGL01128:Ep300
|
APN |
15 |
81,514,207 (GRCm39) |
unclassified |
probably benign |
|
IGL01151:Ep300
|
APN |
15 |
81,507,673 (GRCm39) |
intron |
probably benign |
|
IGL01414:Ep300
|
APN |
15 |
81,511,467 (GRCm39) |
unclassified |
probably benign |
|
IGL01564:Ep300
|
APN |
15 |
81,516,665 (GRCm39) |
unclassified |
probably benign |
|
IGL01875:Ep300
|
APN |
15 |
81,524,224 (GRCm39) |
missense |
unknown |
|
IGL01945:Ep300
|
APN |
15 |
81,500,310 (GRCm39) |
unclassified |
probably benign |
|
IGL02022:Ep300
|
APN |
15 |
81,495,638 (GRCm39) |
unclassified |
probably benign |
|
IGL02115:Ep300
|
APN |
15 |
81,533,019 (GRCm39) |
missense |
unknown |
|
IGL02129:Ep300
|
APN |
15 |
81,470,837 (GRCm39) |
missense |
unknown |
|
IGL02145:Ep300
|
APN |
15 |
81,485,367 (GRCm39) |
missense |
unknown |
|
IGL02149:Ep300
|
APN |
15 |
81,512,621 (GRCm39) |
unclassified |
probably benign |
|
IGL02165:Ep300
|
APN |
15 |
81,525,592 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02226:Ep300
|
APN |
15 |
81,497,613 (GRCm39) |
missense |
unknown |
|
IGL02610:Ep300
|
APN |
15 |
81,485,723 (GRCm39) |
missense |
unknown |
|
IGL02731:Ep300
|
APN |
15 |
81,532,615 (GRCm39) |
missense |
unknown |
|
IGL03239:Ep300
|
APN |
15 |
81,525,589 (GRCm39) |
missense |
unknown |
|
BB001:Ep300
|
UTSW |
15 |
81,533,703 (GRCm39) |
missense |
unknown |
|
BB011:Ep300
|
UTSW |
15 |
81,533,703 (GRCm39) |
missense |
unknown |
|
R0077:Ep300
|
UTSW |
15 |
81,525,514 (GRCm39) |
missense |
unknown |
|
R0145:Ep300
|
UTSW |
15 |
81,500,328 (GRCm39) |
critical splice donor site |
probably null |
|
R0244:Ep300
|
UTSW |
15 |
81,524,329 (GRCm39) |
missense |
unknown |
|
R0390:Ep300
|
UTSW |
15 |
81,524,317 (GRCm39) |
missense |
unknown |
|
R0534:Ep300
|
UTSW |
15 |
81,485,097 (GRCm39) |
splice site |
probably benign |
|
R0671:Ep300
|
UTSW |
15 |
81,500,335 (GRCm39) |
unclassified |
probably benign |
|
R0840:Ep300
|
UTSW |
15 |
81,529,134 (GRCm39) |
missense |
unknown |
|
R1166:Ep300
|
UTSW |
15 |
81,514,265 (GRCm39) |
unclassified |
probably benign |
|
R1737:Ep300
|
UTSW |
15 |
81,510,548 (GRCm39) |
missense |
probably damaging |
0.99 |
R1893:Ep300
|
UTSW |
15 |
81,515,847 (GRCm39) |
unclassified |
probably benign |
|
R2136:Ep300
|
UTSW |
15 |
81,524,648 (GRCm39) |
missense |
unknown |
|
R3427:Ep300
|
UTSW |
15 |
81,485,480 (GRCm39) |
missense |
unknown |
|
R3757:Ep300
|
UTSW |
15 |
81,532,790 (GRCm39) |
missense |
unknown |
|
R3892:Ep300
|
UTSW |
15 |
81,504,198 (GRCm39) |
unclassified |
probably benign |
|
R4554:Ep300
|
UTSW |
15 |
81,485,631 (GRCm39) |
missense |
unknown |
|
R4575:Ep300
|
UTSW |
15 |
81,495,611 (GRCm39) |
unclassified |
probably benign |
|
R4575:Ep300
|
UTSW |
15 |
81,533,210 (GRCm39) |
missense |
unknown |
|
R4577:Ep300
|
UTSW |
15 |
81,495,611 (GRCm39) |
unclassified |
probably benign |
|
R4577:Ep300
|
UTSW |
15 |
81,533,210 (GRCm39) |
missense |
unknown |
|
R4578:Ep300
|
UTSW |
15 |
81,495,611 (GRCm39) |
unclassified |
probably benign |
|
R4578:Ep300
|
UTSW |
15 |
81,533,210 (GRCm39) |
missense |
unknown |
|
R5021:Ep300
|
UTSW |
15 |
81,524,224 (GRCm39) |
missense |
unknown |
|
R5366:Ep300
|
UTSW |
15 |
81,500,301 (GRCm39) |
missense |
probably benign |
0.24 |
R5372:Ep300
|
UTSW |
15 |
81,521,031 (GRCm39) |
missense |
unknown |
|
R5393:Ep300
|
UTSW |
15 |
81,515,819 (GRCm39) |
unclassified |
probably benign |
|
R5410:Ep300
|
UTSW |
15 |
81,533,055 (GRCm39) |
missense |
unknown |
|
R5571:Ep300
|
UTSW |
15 |
81,527,418 (GRCm39) |
intron |
probably benign |
|
R5701:Ep300
|
UTSW |
15 |
81,485,696 (GRCm39) |
missense |
unknown |
|
R5772:Ep300
|
UTSW |
15 |
81,524,115 (GRCm39) |
intron |
probably benign |
|
R5825:Ep300
|
UTSW |
15 |
81,495,673 (GRCm39) |
missense |
probably benign |
0.39 |
R5917:Ep300
|
UTSW |
15 |
81,512,808 (GRCm39) |
unclassified |
probably benign |
|
R5991:Ep300
|
UTSW |
15 |
81,532,667 (GRCm39) |
missense |
unknown |
|
R6019:Ep300
|
UTSW |
15 |
81,525,583 (GRCm39) |
missense |
unknown |
|
R6144:Ep300
|
UTSW |
15 |
81,485,435 (GRCm39) |
missense |
unknown |
|
R6291:Ep300
|
UTSW |
15 |
81,532,708 (GRCm39) |
missense |
unknown |
|
R6292:Ep300
|
UTSW |
15 |
81,500,935 (GRCm39) |
unclassified |
probably benign |
|
R6599:Ep300
|
UTSW |
15 |
81,470,914 (GRCm39) |
missense |
unknown |
|
R6804:Ep300
|
UTSW |
15 |
81,525,512 (GRCm39) |
nonsense |
probably null |
|
R6925:Ep300
|
UTSW |
15 |
81,534,182 (GRCm39) |
missense |
probably benign |
0.32 |
R7327:Ep300
|
UTSW |
15 |
81,511,515 (GRCm39) |
missense |
unknown |
|
R7378:Ep300
|
UTSW |
15 |
81,534,746 (GRCm39) |
missense |
probably damaging |
0.97 |
R7419:Ep300
|
UTSW |
15 |
81,532,715 (GRCm39) |
missense |
unknown |
|
R7498:Ep300
|
UTSW |
15 |
81,524,044 (GRCm39) |
missense |
unknown |
|
R7584:Ep300
|
UTSW |
15 |
81,512,627 (GRCm39) |
missense |
unknown |
|
R7605:Ep300
|
UTSW |
15 |
81,505,353 (GRCm39) |
missense |
unknown |
|
R7619:Ep300
|
UTSW |
15 |
81,492,399 (GRCm39) |
missense |
unknown |
|
R7699:Ep300
|
UTSW |
15 |
81,470,594 (GRCm39) |
start gained |
probably benign |
|
R7763:Ep300
|
UTSW |
15 |
81,470,784 (GRCm39) |
start gained |
probably benign |
|
R7775:Ep300
|
UTSW |
15 |
81,470,887 (GRCm39) |
missense |
unknown |
|
R7778:Ep300
|
UTSW |
15 |
81,470,887 (GRCm39) |
missense |
unknown |
|
R7862:Ep300
|
UTSW |
15 |
81,534,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7924:Ep300
|
UTSW |
15 |
81,533,703 (GRCm39) |
missense |
unknown |
|
R8155:Ep300
|
UTSW |
15 |
81,505,269 (GRCm39) |
missense |
unknown |
|
R8259:Ep300
|
UTSW |
15 |
81,523,218 (GRCm39) |
missense |
unknown |
|
R8276:Ep300
|
UTSW |
15 |
81,534,229 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8331:Ep300
|
UTSW |
15 |
81,485,411 (GRCm39) |
missense |
unknown |
|
R8554:Ep300
|
UTSW |
15 |
81,523,228 (GRCm39) |
missense |
unknown |
|
R9019:Ep300
|
UTSW |
15 |
81,532,730 (GRCm39) |
missense |
unknown |
|
R9128:Ep300
|
UTSW |
15 |
81,533,946 (GRCm39) |
missense |
unknown |
|
R9379:Ep300
|
UTSW |
15 |
81,532,760 (GRCm39) |
missense |
unknown |
|
R9380:Ep300
|
UTSW |
15 |
81,500,245 (GRCm39) |
missense |
unknown |
|
R9484:Ep300
|
UTSW |
15 |
81,521,026 (GRCm39) |
missense |
unknown |
|
R9659:Ep300
|
UTSW |
15 |
81,505,273 (GRCm39) |
missense |
unknown |
|
R9690:Ep300
|
UTSW |
15 |
81,520,396 (GRCm39) |
missense |
unknown |
|
R9721:Ep300
|
UTSW |
15 |
81,492,516 (GRCm39) |
missense |
unknown |
|
RF020:Ep300
|
UTSW |
15 |
81,470,772 (GRCm39) |
start gained |
probably benign |
|
Z1177:Ep300
|
UTSW |
15 |
81,514,298 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACTCTGACCCCTGCCAGAG -3'
(R):5'- TGACTCTGTGTATGGAGCTCC -3'
Sequencing Primer
(F):5'- GCATCAGATCTCATTACAGGTGG -3'
(R):5'- TCCACCAGCATGCACATGGTAG -3'
|
Posted On |
2019-09-13 |