Incidental Mutation 'R4577:Ep300'
| ID |
342583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
p300, KAT3B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81533210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1756
(S1756P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: S1756P
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S1756P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206431
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
C |
4: 144,430,323 (GRCm39) |
I222S |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,062,568 (GRCm39) |
C1429F |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,364,892 (GRCm39) |
E1524G |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,090 (GRCm39) |
V759A |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,277,773 (GRCm39) |
S2060T |
possibly damaging |
Het |
| Cand2 |
G |
A |
6: 115,768,220 (GRCm39) |
C455Y |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,191 (GRCm39) |
D366G |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,711,152 (GRCm39) |
R595G |
probably damaging |
Het |
| Chaf1a |
G |
A |
17: 56,372,184 (GRCm39) |
R784Q |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,660,730 (GRCm39) |
S698I |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,289,396 (GRCm39) |
Y1195S |
probably benign |
Het |
| Dynlt4 |
A |
G |
4: 116,985,812 (GRCm39) |
T212A |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,114,308 (GRCm39) |
I1229T |
probably damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| F3 |
A |
G |
3: 121,527,763 (GRCm39) |
I254V |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,686,397 (GRCm39) |
F270S |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,928,203 (GRCm39) |
Y231C |
probably benign |
Het |
| Gm10220 |
A |
C |
5: 26,322,869 (GRCm39) |
I181S |
probably benign |
Het |
| Gnb5 |
G |
A |
9: 75,250,823 (GRCm39) |
V316I |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,400,236 (GRCm39) |
F325S |
possibly damaging |
Het |
| Hmgn2 |
G |
A |
4: 133,694,668 (GRCm39) |
|
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Iqub |
A |
T |
6: 24,501,290 (GRCm39) |
I220N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 66,158,063 (GRCm39) |
K4R |
unknown |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,570,486 (GRCm39) |
E655K |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,711,731 (GRCm39) |
C3163Y |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,750,550 (GRCm39) |
R934* |
probably null |
Het |
| Map4 |
A |
G |
9: 109,910,489 (GRCm39) |
T1061A |
possibly damaging |
Het |
| Mbnl1 |
G |
A |
3: 60,437,199 (GRCm39) |
V50I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,492,379 (GRCm39) |
Q132* |
probably null |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mtmr3 |
G |
C |
11: 4,447,375 (GRCm39) |
L361V |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,124,827 (GRCm39) |
E1792G |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,543 (GRCm39) |
A55S |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,167 (GRCm39) |
Y252* |
probably null |
Het |
| Or4a79 |
T |
C |
2: 89,552,387 (GRCm39) |
K23E |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,193,861 (GRCm39) |
S556* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,867 (GRCm39) |
E206G |
probably benign |
Het |
| Paxbp1 |
T |
G |
16: 90,812,042 (GRCm39) |
K889N |
probably damaging |
Het |
| Pcdhga2 |
G |
A |
18: 37,802,302 (GRCm39) |
A49T |
possibly damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,609,014 (GRCm39) |
L292* |
probably null |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Plec |
C |
A |
15: 76,068,269 (GRCm39) |
Q1142H |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
| Prss28 |
T |
C |
17: 25,529,079 (GRCm39) |
V140A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,769,786 (GRCm39) |
S258T |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,336,866 (GRCm39) |
C932* |
probably null |
Het |
| Sdc2 |
T |
C |
15: 33,017,278 (GRCm39) |
Y31H |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,675 (GRCm39) |
E55G |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,310,451 (GRCm39) |
V327G |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,286,679 (GRCm39) |
E575G |
unknown |
Het |
| Slco1a4 |
A |
T |
6: 141,765,266 (GRCm39) |
S325R |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,648,787 (GRCm39) |
V156L |
possibly damaging |
Het |
| Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,392,039 (GRCm39) |
D1607G |
probably damaging |
Het |
| Tmem101 |
T |
A |
11: 102,046,663 (GRCm39) |
M69L |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,597,208 (GRCm39) |
M542I |
probably benign |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,623,441 (GRCm39) |
I280T |
probably benign |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,789 (GRCm39) |
T106A |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,123,724 (GRCm39) |
H583R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,241 (GRCm39) |
P2161S |
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 |
|
|
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 |
|
R7388:Ep300
|
UTSW |
15 |
81,532,567 (GRCm39) |
missense |
unknown |
|
|
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'- TGACCTGTGCATCACTTGTTATAAC -3'
(R):5'- AGCATCTGAGCCTGTTGGAG -3'
Sequencing Primer
(F):5'- ACACTAAAAATCATGACCACAAAATG -3'
(R):5'- AGCCTGTTGGAGCCGGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation