Incidental Mutation 'R3892:Ep300'
| ID |
310009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
KAT3B, p300 |
| MMRRC Submission |
040804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3892 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81585351-81652077 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 81619997 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
[ENSMUST00000206936]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068387
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
| 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 |
probably benign
Transcript: ENSMUST00000185967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206936
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
A |
10: 50,842,193 (GRCm38) |
I1994N |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,501,273 (GRCm38) |
D43G |
probably benign |
Het |
| Bckdhb |
A |
C |
9: 83,988,810 (GRCm38) |
E124D |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,099,296 (GRCm38) |
T873A |
probably benign |
Het |
| Cbs |
C |
A |
17: 31,616,074 (GRCm38) |
C476F |
probably benign |
Het |
| Cckbr |
A |
C |
7: 105,426,169 (GRCm38) |
T49P |
probably benign |
Het |
| Cd248 |
C |
T |
19: 5,069,506 (GRCm38) |
P461S |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 104,616,327 (GRCm38) |
Y19C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,522,993 (GRCm38) |
K92E |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,761,793 (GRCm38) |
C7* |
probably null |
Het |
| Ctnnb1 |
T |
G |
9: 120,950,514 (GRCm38) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 123,458,344 (GRCm38) |
|
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,599,713 (GRCm38) |
Y257H |
probably damaging |
Het |
| Diaph1 |
C |
A |
18: 37,900,638 (GRCm38) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,691,594 (GRCm38) |
I264F |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,856,616 (GRCm38) |
M491V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,846,187 (GRCm38) |
I590S |
probably damaging |
Het |
| Fam209 |
A |
G |
2: 172,472,698 (GRCm38) |
K36E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,279,526 (GRCm38) |
Q95L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm38) |
Y4C |
probably damaging |
Het |
| Ggcx |
G |
A |
6: 72,418,372 (GRCm38) |
V149M |
probably damaging |
Het |
| Gm10801 |
T |
G |
2: 98,663,901 (GRCm38) |
|
probably null |
Het |
| H2-M10.1 |
T |
A |
17: 36,324,389 (GRCm38) |
Q250L |
possibly damaging |
Het |
| Hecw2 |
A |
T |
1: 53,926,121 (GRCm38) |
N515K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,635,195 (GRCm38) |
D3592E |
probably damaging |
Het |
| Klf5 |
T |
A |
14: 99,299,073 (GRCm38) |
F27I |
probably benign |
Het |
| Krt1 |
T |
A |
15: 101,850,412 (GRCm38) |
S106C |
unknown |
Het |
| Lrrc14b |
T |
C |
13: 74,363,668 (GRCm38) |
S98G |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 158,160,696 (GRCm38) |
V1136A |
probably benign |
Het |
| Map3k11 |
G |
T |
19: 5,702,283 (GRCm38) |
C831F |
probably benign |
Het |
| Mccc2 |
T |
C |
13: 99,967,733 (GRCm38) |
T303A |
probably benign |
Het |
| Mipep |
T |
C |
14: 60,808,995 (GRCm38) |
L322P |
probably damaging |
Het |
| Mob1b |
T |
A |
5: 88,753,202 (GRCm38) |
I156K |
probably damaging |
Het |
| Myd88 |
T |
C |
9: 119,337,816 (GRCm38) |
D225G |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,349,456 (GRCm38) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,331,485 (GRCm38) |
A342S |
possibly damaging |
Het |
| Olfr1309 |
A |
C |
2: 111,983,141 (GRCm38) |
M311R |
probably benign |
Het |
| Olfr58 |
T |
G |
9: 19,783,715 (GRCm38) |
I194S |
probably benign |
Het |
| Olfr718-ps1 |
G |
T |
5: 143,137,397 (GRCm38) |
S290R |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,479,369 (GRCm38) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,749,481 (GRCm38) |
H765P |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,215,654 (GRCm38) |
D791Y |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,336,439 (GRCm38) |
I320M |
probably damaging |
Het |
| Psg23 |
G |
T |
7: 18,612,041 (GRCm38) |
T243N |
probably damaging |
Het |
| Ptma-ps1 |
A |
G |
7: 24,064,118 (GRCm38) |
|
noncoding transcript |
Het |
| Ptprk |
A |
T |
10: 28,263,621 (GRCm38) |
Q114L |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,764,082 (GRCm38) |
L774P |
probably damaging |
Het |
| Rabgef1 |
A |
G |
5: 130,208,679 (GRCm38) |
|
probably benign |
Het |
| Rasef |
A |
G |
4: 73,780,397 (GRCm38) |
V9A |
probably benign |
Het |
| Rcbtb1 |
T |
A |
14: 59,228,355 (GRCm38) |
H382Q |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,411,490 (GRCm38) |
|
probably null |
Het |
| Sacs |
T |
G |
14: 61,204,387 (GRCm38) |
I1294R |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,022,957 (GRCm38) |
F113Y |
probably damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,217,389 (GRCm38) |
S204N |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,979,032 (GRCm38) |
|
probably benign |
Het |
| St8sia6 |
G |
A |
2: 13,672,524 (GRCm38) |
H161Y |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,917,075 (GRCm38) |
|
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,364,759 (GRCm38) |
V617A |
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,389,752 (GRCm38) |
S221T |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 86,164,286 (GRCm38) |
L436Q |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 33,047,280 (GRCm38) |
E2076G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,560,352 (GRCm38) |
V879I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,904,476 (GRCm38) |
I786T |
probably benign |
Het |
|
| Other mutations in Ep300 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Ep300
|
APN |
15 |
81,641,418 (GRCm38) |
missense |
unknown |
|
|
IGL01128:Ep300
|
APN |
15 |
81,630,006 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01151:Ep300
|
APN |
15 |
81,623,472 (GRCm38) |
intron |
probably benign |
|
|
IGL01414:Ep300
|
APN |
15 |
81,627,266 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01564:Ep300
|
APN |
15 |
81,632,464 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01875:Ep300
|
APN |
15 |
81,640,023 (GRCm38) |
missense |
unknown |
|
|
IGL01945:Ep300
|
APN |
15 |
81,616,109 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02022:Ep300
|
APN |
15 |
81,611,437 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02115:Ep300
|
APN |
15 |
81,648,818 (GRCm38) |
missense |
unknown |
|
|
IGL02129:Ep300
|
APN |
15 |
81,586,636 (GRCm38) |
missense |
unknown |
|
|
IGL02145:Ep300
|
APN |
15 |
81,601,166 (GRCm38) |
missense |
unknown |
|
|
IGL02149:Ep300
|
APN |
15 |
81,628,420 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02165:Ep300
|
APN |
15 |
81,641,391 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL02226:Ep300
|
APN |
15 |
81,613,412 (GRCm38) |
missense |
unknown |
|
|
IGL02610:Ep300
|
APN |
15 |
81,601,522 (GRCm38) |
missense |
unknown |
|
|
IGL02731:Ep300
|
APN |
15 |
81,648,414 (GRCm38) |
missense |
unknown |
|
|
IGL03239:Ep300
|
APN |
15 |
81,641,388 (GRCm38) |
missense |
unknown |
|
|
BB001:Ep300
|
UTSW |
15 |
81,649,502 (GRCm38) |
missense |
unknown |
|
|
BB011:Ep300
|
UTSW |
15 |
81,649,502 (GRCm38) |
missense |
unknown |
|
|
R0077:Ep300
|
UTSW |
15 |
81,641,313 (GRCm38) |
missense |
unknown |
|
|
R0145:Ep300
|
UTSW |
15 |
81,616,127 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0244:Ep300
|
UTSW |
15 |
81,640,128 (GRCm38) |
missense |
unknown |
|
|
R0390:Ep300
|
UTSW |
15 |
81,640,116 (GRCm38) |
missense |
unknown |
|
|
R0534:Ep300
|
UTSW |
15 |
81,600,896 (GRCm38) |
splice site |
probably benign |
|
|
R0671:Ep300
|
UTSW |
15 |
81,616,134 (GRCm38) |
unclassified |
probably benign |
|
|
R0840:Ep300
|
UTSW |
15 |
81,644,933 (GRCm38) |
missense |
unknown |
|
|
R1166:Ep300
|
UTSW |
15 |
81,630,064 (GRCm38) |
unclassified |
probably benign |
|
|
R1737:Ep300
|
UTSW |
15 |
81,626,347 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1893:Ep300
|
UTSW |
15 |
81,631,646 (GRCm38) |
unclassified |
probably benign |
|
|
R2136:Ep300
|
UTSW |
15 |
81,640,447 (GRCm38) |
missense |
unknown |
|
|
R3427:Ep300
|
UTSW |
15 |
81,601,279 (GRCm38) |
missense |
unknown |
|
|
R3757:Ep300
|
UTSW |
15 |
81,648,589 (GRCm38) |
missense |
unknown |
|
|
R4554:Ep300
|
UTSW |
15 |
81,601,430 (GRCm38) |
missense |
unknown |
|
|
R4575:Ep300
|
UTSW |
15 |
81,611,410 (GRCm38) |
unclassified |
probably benign |
|
|
R4575:Ep300
|
UTSW |
15 |
81,649,009 (GRCm38) |
missense |
unknown |
|
|
R4577:Ep300
|
UTSW |
15 |
81,611,410 (GRCm38) |
unclassified |
probably benign |
|
|
R4577:Ep300
|
UTSW |
15 |
81,649,009 (GRCm38) |
missense |
unknown |
|
|
R4578:Ep300
|
UTSW |
15 |
81,611,410 (GRCm38) |
unclassified |
probably benign |
|
|
R4578:Ep300
|
UTSW |
15 |
81,649,009 (GRCm38) |
missense |
unknown |
|
|
R5021:Ep300
|
UTSW |
15 |
81,640,023 (GRCm38) |
missense |
unknown |
|
|
R5366:Ep300
|
UTSW |
15 |
81,616,100 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5372:Ep300
|
UTSW |
15 |
81,636,830 (GRCm38) |
missense |
unknown |
|
|
R5393:Ep300
|
UTSW |
15 |
81,631,618 (GRCm38) |
unclassified |
probably benign |
|
|
R5410:Ep300
|
UTSW |
15 |
81,648,854 (GRCm38) |
missense |
unknown |
|
|
R5571:Ep300
|
UTSW |
15 |
81,643,217 (GRCm38) |
intron |
probably benign |
|
|
R5701:Ep300
|
UTSW |
15 |
81,601,495 (GRCm38) |
missense |
unknown |
|
|
R5772:Ep300
|
UTSW |
15 |
81,639,914 (GRCm38) |
intron |
probably benign |
|
|
R5825:Ep300
|
UTSW |
15 |
81,611,472 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5917:Ep300
|
UTSW |
15 |
81,628,607 (GRCm38) |
unclassified |
probably benign |
|
|
R5991:Ep300
|
UTSW |
15 |
81,648,466 (GRCm38) |
missense |
unknown |
|
|
R6019:Ep300
|
UTSW |
15 |
81,641,382 (GRCm38) |
missense |
unknown |
|
|
R6144:Ep300
|
UTSW |
15 |
81,601,234 (GRCm38) |
missense |
unknown |
|
|
R6291:Ep300
|
UTSW |
15 |
81,648,507 (GRCm38) |
missense |
unknown |
|
|
R6292:Ep300
|
UTSW |
15 |
81,616,734 (GRCm38) |
unclassified |
probably benign |
|
|
R6599:Ep300
|
UTSW |
15 |
81,586,713 (GRCm38) |
missense |
unknown |
|
|
R6804:Ep300
|
UTSW |
15 |
81,641,311 (GRCm38) |
nonsense |
probably null |
|
|
R6925:Ep300
|
UTSW |
15 |
81,649,981 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7327:Ep300
|
UTSW |
15 |
81,627,314 (GRCm38) |
missense |
unknown |
|
|
R7378:Ep300
|
UTSW |
15 |
81,650,545 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7388:Ep300
|
UTSW |
15 |
81,648,366 (GRCm38) |
missense |
unknown |
|
|
R7419:Ep300
|
UTSW |
15 |
81,648,514 (GRCm38) |
missense |
unknown |
|
|
R7498:Ep300
|
UTSW |
15 |
81,639,843 (GRCm38) |
missense |
unknown |
|
|
R7584:Ep300
|
UTSW |
15 |
81,628,426 (GRCm38) |
missense |
unknown |
|
|
R7605:Ep300
|
UTSW |
15 |
81,621,152 (GRCm38) |
missense |
unknown |
|
|
R7619:Ep300
|
UTSW |
15 |
81,608,198 (GRCm38) |
missense |
unknown |
|
|
R7699:Ep300
|
UTSW |
15 |
81,586,393 (GRCm38) |
start gained |
probably benign |
|
|
R7763:Ep300
|
UTSW |
15 |
81,586,583 (GRCm38) |
start gained |
probably benign |
|
|
R7775:Ep300
|
UTSW |
15 |
81,586,686 (GRCm38) |
missense |
unknown |
|
|
R7778:Ep300
|
UTSW |
15 |
81,586,686 (GRCm38) |
missense |
unknown |
|
|
R7862:Ep300
|
UTSW |
15 |
81,650,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7924:Ep300
|
UTSW |
15 |
81,649,502 (GRCm38) |
missense |
unknown |
|
|
R8155:Ep300
|
UTSW |
15 |
81,621,068 (GRCm38) |
missense |
unknown |
|
|
R8259:Ep300
|
UTSW |
15 |
81,639,017 (GRCm38) |
missense |
unknown |
|
|
R8276:Ep300
|
UTSW |
15 |
81,650,028 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8331:Ep300
|
UTSW |
15 |
81,601,210 (GRCm38) |
missense |
unknown |
|
|
R8554:Ep300
|
UTSW |
15 |
81,639,027 (GRCm38) |
missense |
unknown |
|
|
R9019:Ep300
|
UTSW |
15 |
81,648,529 (GRCm38) |
missense |
unknown |
|
|
R9128:Ep300
|
UTSW |
15 |
81,649,745 (GRCm38) |
missense |
unknown |
|
|
R9379:Ep300
|
UTSW |
15 |
81,648,559 (GRCm38) |
missense |
unknown |
|
|
R9380:Ep300
|
UTSW |
15 |
81,616,044 (GRCm38) |
missense |
unknown |
|
|
R9484:Ep300
|
UTSW |
15 |
81,636,825 (GRCm38) |
missense |
unknown |
|
|
R9659:Ep300
|
UTSW |
15 |
81,621,072 (GRCm38) |
missense |
unknown |
|
|
R9690:Ep300
|
UTSW |
15 |
81,636,195 (GRCm38) |
missense |
unknown |
|
|
R9721:Ep300
|
UTSW |
15 |
81,608,315 (GRCm38) |
missense |
unknown |
|
|
RF020:Ep300
|
UTSW |
15 |
81,586,571 (GRCm38) |
start gained |
probably benign |
|
|
Z1177:Ep300
|
UTSW |
15 |
81,630,097 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAACTTCAAATTAAGTGTGGGG -3'
(R):5'- GTAGGTTAAAACTCAACAGTCCTAC -3'
Sequencing Primer
(F):5'- ATGCTGGCCTGGAATTCACAG -3'
(R):5'- GTTAAAACTCAACAGTCCTACTTCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation