Incidental Mutation 'R1737:Ep300'
ID |
199817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
039769-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1737 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81510548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 99
(Y99H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
[ENSMUST00000206936]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: Y752H
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: Y752H
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 |
probably benign
Transcript: ENSMUST00000206833
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206936
AA Change: Y99H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.0692 |
Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.4%
|
Validation Efficiency |
100% (75/75) |
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 |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Ak7 |
G |
A |
12: 105,708,591 (GRCm39) |
V349M |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,192,453 (GRCm39) |
E436V |
possibly damaging |
Het |
Apc |
C |
A |
18: 34,450,075 (GRCm39) |
P2290T |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,476,986 (GRCm39) |
|
probably benign |
Het |
Bahd1 |
T |
C |
2: 118,746,404 (GRCm39) |
S8P |
probably damaging |
Het |
BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,862,677 (GRCm39) |
Y28H |
probably benign |
Het |
Cdh10 |
A |
T |
15: 18,964,149 (GRCm39) |
I104F |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,703,061 (GRCm39) |
D508G |
possibly damaging |
Het |
Ces2a |
G |
T |
8: 105,467,456 (GRCm39) |
A494S |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,624,553 (GRCm39) |
T123M |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,474,904 (GRCm39) |
S1102P |
probably damaging |
Het |
Col12a1 |
C |
A |
9: 79,610,733 (GRCm39) |
D224Y |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,208,357 (GRCm39) |
|
probably benign |
Het |
Cyp7a1 |
T |
A |
4: 6,272,848 (GRCm39) |
T122S |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,857,000 (GRCm39) |
|
probably null |
Het |
Eid2 |
T |
C |
7: 27,967,924 (GRCm39) |
V182A |
possibly damaging |
Het |
Eloa |
A |
T |
4: 135,738,081 (GRCm39) |
V293D |
probably benign |
Het |
Enkur |
G |
A |
2: 21,199,106 (GRCm39) |
P143S |
probably damaging |
Het |
Fbxw5 |
C |
A |
2: 25,393,596 (GRCm39) |
L66I |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,110,928 (GRCm39) |
R985S |
unknown |
Het |
Fscb |
A |
T |
12: 64,521,355 (GRCm39) |
I37K |
possibly damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,679,296 (GRCm39) |
N3S |
probably benign |
Het |
H2-Q7 |
A |
C |
17: 35,658,602 (GRCm39) |
Y80S |
probably damaging |
Het |
H60c |
A |
T |
10: 3,209,914 (GRCm39) |
D124E |
possibly damaging |
Het |
Hsd3b2 |
A |
T |
3: 98,618,862 (GRCm39) |
V361E |
probably damaging |
Het |
Ice1 |
A |
C |
13: 70,754,444 (GRCm39) |
C547W |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,945,289 (GRCm39) |
D670V |
probably damaging |
Het |
Jmy |
A |
G |
13: 93,635,303 (GRCm39) |
V171A |
probably damaging |
Het |
Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
Klk1b1 |
A |
T |
7: 43,619,783 (GRCm39) |
Q114L |
probably benign |
Het |
Krt10 |
A |
G |
11: 99,278,213 (GRCm39) |
M280T |
possibly damaging |
Het |
Lama1 |
G |
A |
17: 68,109,916 (GRCm39) |
R2179Q |
probably benign |
Het |
Mbd3l1 |
C |
T |
9: 18,396,225 (GRCm39) |
P117S |
possibly damaging |
Het |
Med18 |
A |
T |
4: 132,187,420 (GRCm39) |
S71R |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,895,607 (GRCm39) |
I643N |
possibly damaging |
Het |
Nfib |
T |
C |
4: 82,416,826 (GRCm39) |
K70E |
probably damaging |
Het |
Nr3c2 |
A |
C |
8: 77,634,958 (GRCm39) |
S20R |
probably benign |
Het |
Nr6a1 |
A |
T |
2: 38,628,955 (GRCm39) |
F356L |
probably benign |
Het |
Oca2 |
G |
A |
7: 55,978,533 (GRCm39) |
R567H |
probably damaging |
Het |
Or10k2 |
A |
G |
8: 84,268,045 (GRCm39) |
S91G |
probably benign |
Het |
Or1e35 |
T |
A |
11: 73,797,911 (GRCm39) |
M136L |
possibly damaging |
Het |
Or1p1 |
T |
C |
11: 74,179,637 (GRCm39) |
L55P |
probably damaging |
Het |
Or6c88 |
T |
A |
10: 129,406,697 (GRCm39) |
Y58N |
probably damaging |
Het |
Or8g33 |
T |
C |
9: 39,338,254 (GRCm39) |
T38A |
probably damaging |
Het |
Pcdhb10 |
A |
G |
18: 37,546,009 (GRCm39) |
T362A |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,374,404 (GRCm39) |
V59E |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,410,905 (GRCm39) |
|
probably null |
Het |
Prr36 |
T |
C |
8: 4,264,370 (GRCm39) |
|
probably benign |
Het |
Ptger2 |
A |
G |
14: 45,239,228 (GRCm39) |
T289A |
probably benign |
Het |
Rad18 |
A |
G |
6: 112,658,498 (GRCm39) |
F136L |
probably damaging |
Het |
Rhbg |
T |
A |
3: 88,153,181 (GRCm39) |
S258C |
probably damaging |
Het |
Scgb2b27 |
T |
C |
7: 33,712,739 (GRCm39) |
I34M |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,944,162 (GRCm39) |
T135K |
probably damaging |
Het |
Slc20a2 |
A |
G |
8: 23,035,582 (GRCm39) |
I193M |
probably damaging |
Het |
Slc27a1 |
G |
A |
8: 72,023,504 (GRCm39) |
V47I |
probably benign |
Het |
Slc9a5 |
G |
A |
8: 106,094,766 (GRCm39) |
V786M |
probably damaging |
Het |
Smyd1 |
A |
G |
6: 71,193,875 (GRCm39) |
L350P |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,614,681 (GRCm39) |
F576I |
probably damaging |
Het |
Sulf2 |
A |
T |
2: 165,924,598 (GRCm39) |
V496E |
probably benign |
Het |
Tcl1b3 |
C |
A |
12: 105,157,481 (GRCm39) |
S41Y |
probably damaging |
Het |
Tulp2 |
A |
T |
7: 45,169,201 (GRCm39) |
N256I |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,138,668 (GRCm39) |
C349S |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,070,604 (GRCm39) |
I730T |
probably damaging |
Het |
Vmn1r61 |
A |
T |
7: 5,614,060 (GRCm39) |
F85I |
probably benign |
Het |
Zfp318 |
A |
G |
17: 46,710,403 (GRCm39) |
T709A |
probably benign |
Het |
Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
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 |
|
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 |
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'- GATATCTTGGAGCCCTGTGTCCCT -3'
(R):5'- CCAAGCCTGGAAATCTGCATACACT -3'
Sequencing Primer
(F):5'- GTGTTTGGTACTTACAAGCCTATTC -3'
(R):5'- AGAGTCGGGTACATACTATTGTC -3'
|
Posted On |
2014-05-23 |