Incidental Mutation 'R7775:Ep300'
ID |
598855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
045831-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7775 (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 81470887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 20
(S20P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: S20P
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: S20P
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 |
|
Meta Mutation Damage Score |
0.0938 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
Arhgap35 |
T |
C |
7: 16,296,573 (GRCm39) |
K831E |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,041,622 (GRCm39) |
R302C |
probably benign |
Het |
Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
Car4 |
T |
C |
11: 84,856,449 (GRCm39) |
S246P |
probably damaging |
Het |
Chrm5 |
A |
G |
2: 112,310,301 (GRCm39) |
S272P |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
Chst12 |
T |
A |
5: 140,509,376 (GRCm39) |
M1K |
probably null |
Het |
Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
Coro6 |
T |
G |
11: 77,356,599 (GRCm39) |
D102E |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
Dtx4 |
G |
T |
19: 12,469,374 (GRCm39) |
P251Q |
probably benign |
Het |
Dyrk3 |
C |
T |
1: 131,057,364 (GRCm39) |
V270I |
possibly damaging |
Het |
Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
Fstl4 |
C |
T |
11: 53,067,798 (GRCm39) |
Q554* |
probably null |
Het |
Gal3st2b |
G |
T |
1: 93,868,506 (GRCm39) |
D246Y |
probably damaging |
Het |
Gkap1 |
A |
T |
13: 58,398,966 (GRCm39) |
D188E |
probably benign |
Het |
Gm14226 |
T |
A |
2: 154,866,630 (GRCm39) |
C196S |
possibly damaging |
Het |
Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
Grm8 |
T |
C |
6: 27,363,671 (GRCm39) |
R615G |
possibly damaging |
Het |
Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
Kansl3 |
A |
T |
1: 36,387,758 (GRCm39) |
L530H |
probably damaging |
Het |
Kcna5 |
A |
T |
6: 126,511,768 (GRCm39) |
L120* |
probably null |
Het |
Kif26b |
T |
A |
1: 178,692,441 (GRCm39) |
S461T |
probably benign |
Het |
L3mbtl3 |
A |
T |
10: 26,228,215 (GRCm39) |
V15E |
unknown |
Het |
Lama4 |
A |
T |
10: 38,954,843 (GRCm39) |
H1132L |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Ldlrad4 |
T |
C |
18: 68,368,827 (GRCm39) |
S95P |
probably damaging |
Het |
Liph |
G |
T |
16: 21,777,664 (GRCm39) |
L379I |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
Matn2 |
A |
T |
15: 34,399,223 (GRCm39) |
H370L |
possibly damaging |
Het |
Mettl23 |
T |
G |
11: 116,740,096 (GRCm39) |
V189G |
probably benign |
Het |
Mpp4 |
G |
A |
1: 59,162,672 (GRCm39) |
T543M |
not run |
Het |
Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
Or10d4 |
C |
A |
9: 39,580,534 (GRCm39) |
F60L |
possibly damaging |
Het |
Or5ac21 |
A |
T |
16: 59,123,614 (GRCm39) |
I33F |
probably damaging |
Het |
Or7d9 |
A |
G |
9: 20,193,708 (GRCm39) |
|
probably benign |
Het |
Or8b36 |
T |
A |
9: 37,937,963 (GRCm39) |
I287N |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,203 (GRCm39) |
H176L |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
Pcdha11 |
A |
T |
18: 37,145,733 (GRCm39) |
Y608F |
possibly damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,828,578 (GRCm39) |
D342G |
probably damaging |
Het |
Pde6d |
A |
G |
1: 86,471,250 (GRCm39) |
S143P |
probably damaging |
Het |
Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
Plec |
A |
T |
15: 76,061,135 (GRCm39) |
I2934N |
probably damaging |
Het |
Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,177,718 (GRCm39) |
L17P |
probably damaging |
Het |
Pycr3 |
T |
C |
15: 75,790,138 (GRCm39) |
D171G |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,875,293 (GRCm39) |
T359A |
probably benign |
Het |
Sap25 |
C |
T |
5: 137,640,186 (GRCm39) |
R66W |
probably benign |
Het |
Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,238 (GRCm39) |
V313A |
probably benign |
Het |
Uevld |
A |
T |
7: 46,576,100 (GRCm39) |
I462N |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,720 (GRCm39) |
T396A |
possibly 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 |
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 |
|
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'- ACCATTTCTGTTGAGTCCGC -3'
(R):5'- TTGGGCTACTGGACGTCTTC -3'
Sequencing Primer
(F):5'- CTGTTGAGTCCGCATCCC -3'
(R):5'- GACGTCTTCGACCAGTCC -3'
|
Posted On |
2019-11-26 |