Incidental Mutation 'R6144:Ep300'
| ID |
488768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
p300, KAT3B |
| MMRRC Submission |
044291-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81485435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 141
(S141G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: S141G
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S141G
| 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: ENSMUST00000189338
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (65/68) |
| 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 |
|---|
| 3300002I08Rik |
A |
T |
2: 150,186,564 (GRCm39) |
D40E |
possibly damaging |
Het |
| 4921517D22Rik |
C |
T |
13: 59,837,347 (GRCm39) |
R246H |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,832 (GRCm39) |
T203A |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,600,056 (GRCm39) |
D2096E |
probably damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,739,639 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,118,486 (GRCm39) |
G814C |
probably damaging |
Het |
| Armc9 |
T |
G |
1: 86,172,301 (GRCm39) |
I5S |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,120 (GRCm39) |
T74A |
probably damaging |
Het |
| Cdca7l |
T |
A |
12: 117,837,446 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,733,153 (GRCm39) |
|
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,288,955 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,803,148 (GRCm39) |
R2149C |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,585,082 (GRCm39) |
S289P |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,356,887 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
T |
C |
2: 91,822,350 (GRCm39) |
H212R |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,053 (GRCm39) |
D254G |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,993 (GRCm39) |
H232R |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,101,105 (GRCm39) |
L1216P |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,529,476 (GRCm39) |
I307T |
possibly damaging |
Het |
| Evl |
A |
C |
12: 108,619,290 (GRCm39) |
K101T |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,328 (GRCm39) |
G470R |
probably benign |
Het |
| Flg |
A |
T |
3: 93,190,515 (GRCm39) |
|
probably benign |
Het |
| Gm45704 |
T |
A |
8: 73,510,920 (GRCm39) |
|
|
Het |
| Grm1 |
T |
C |
10: 10,955,640 (GRCm39) |
M215V |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,345,994 (GRCm39) |
D210G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,986,157 (GRCm39) |
H436L |
possibly damaging |
Het |
| Hycc1 |
T |
C |
5: 24,171,367 (GRCm39) |
S352G |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgb7 |
C |
A |
15: 102,131,917 (GRCm39) |
R222L |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,125,296 (GRCm39) |
V485A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,826 (GRCm39) |
V100A |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,794 (GRCm39) |
M50T |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,972,986 (GRCm39) |
W382G |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,478 (GRCm39) |
F922I |
possibly damaging |
Het |
| Mrap2 |
T |
C |
9: 87,057,871 (GRCm39) |
V53A |
probably damaging |
Het |
| Mrps7 |
C |
A |
11: 115,495,000 (GRCm39) |
A5E |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,587,298 (GRCm39) |
N2713S |
possibly damaging |
Het |
| Nckipsd |
T |
C |
9: 108,689,585 (GRCm39) |
S249P |
probably damaging |
Het |
| Neil3 |
T |
C |
8: 54,052,447 (GRCm39) |
T384A |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,787,399 (GRCm39) |
I504K |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,357,839 (GRCm39) |
N107S |
probably benign |
Het |
| Or11h4b |
C |
A |
14: 50,918,392 (GRCm39) |
R233L |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,116 (GRCm39) |
L47H |
probably damaging |
Het |
| Or5c1 |
T |
A |
2: 37,222,125 (GRCm39) |
M122K |
probably damaging |
Het |
| Otub1 |
G |
T |
19: 7,176,518 (GRCm39) |
Y205* |
probably null |
Het |
| Pals1 |
T |
C |
12: 78,871,563 (GRCm39) |
V381A |
possibly damaging |
Het |
| Pierce2 |
C |
A |
9: 72,887,270 (GRCm39) |
C79F |
probably damaging |
Het |
| Plpp7 |
T |
A |
2: 31,986,100 (GRCm39) |
S93T |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,138,011 (GRCm38) |
Y188D |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,229,551 (GRCm39) |
I78V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,603,128 (GRCm39) |
C602* |
probably null |
Het |
| Sbds |
T |
C |
5: 130,275,185 (GRCm39) |
K248E |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,092 (GRCm39) |
N42K |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,966,797 (GRCm39) |
L368P |
probably damaging |
Het |
| Srrm1 |
T |
C |
4: 135,065,184 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,614,533 (GRCm39) |
V288I |
probably benign |
Het |
| Tas2r107 |
C |
A |
6: 131,636,966 (GRCm39) |
A28S |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,037,155 (GRCm39) |
I268T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,097,437 (GRCm39) |
F495L |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,740 (GRCm38) |
L1434P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,697,005 (GRCm39) |
|
probably null |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,761 (GRCm39) |
E17V |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,719,886 (GRCm39) |
L819Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,914 (GRCm39) |
T582A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,193 (GRCm39) |
S558P |
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 |
|
|
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'- CAGCTTCAGACAAGTCTTGGC -3'
(R):5'- CAATGGAACCGTTCATGACTTG -3'
Sequencing Primer
(F):5'- GCTTCAGACAAGTCTTGGCATAGTAC -3'
(R):5'- ATGACTTGATTGGGCATTATCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation