Incidental Mutation 'R7775:Ep300'
| ID |
598855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
KAT3B, p300 |
| 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 |
81585351-81652077 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81586686 bp (GRCm38)
|
| 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: 16,562,648 (GRCm38) |
K831E |
probably benign |
Het |
| Arpc1a |
C |
T |
5: 145,104,812 (GRCm38) |
R302C |
probably benign |
Het |
| Asb5 |
A |
C |
8: 54,584,792 (GRCm38) |
H173P |
|
Het |
| Atp6v0a2 |
A |
G |
5: 124,641,505 (GRCm38) |
E186G |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,089,760 (GRCm38) |
|
probably null |
Het |
| Capn7 |
A |
G |
14: 31,352,410 (GRCm38) |
T257A |
probably benign |
Het |
| Car4 |
T |
C |
11: 84,965,623 (GRCm38) |
S246P |
probably damaging |
Het |
| Chrm5 |
A |
G |
2: 112,479,956 (GRCm38) |
S272P |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,407,364 (GRCm38) |
I162V |
probably damaging |
Het |
| Chst12 |
T |
A |
5: 140,523,621 (GRCm38) |
M1K |
probably null |
Het |
| Cldn6 |
T |
A |
17: 23,681,607 (GRCm38) |
C182S |
probably damaging |
Het |
| Coro6 |
T |
G |
11: 77,465,773 (GRCm38) |
D102E |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,029,763 (GRCm38) |
I169T |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,492,010 (GRCm38) |
P251Q |
probably benign |
Het |
| Dyrk3 |
C |
T |
1: 131,129,627 (GRCm38) |
V270I |
possibly damaging |
Het |
| Efhc1 |
A |
T |
1: 20,979,461 (GRCm38) |
Y515F |
probably damaging |
Het |
| Fmnl2 |
C |
T |
2: 53,073,680 (GRCm38) |
L275F |
unknown |
Het |
| Fstl4 |
C |
T |
11: 53,176,971 (GRCm38) |
Q554* |
probably null |
Het |
| Gal3st2b |
G |
T |
1: 93,940,784 (GRCm38) |
D246Y |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,251,152 (GRCm38) |
D188E |
probably benign |
Het |
| Gm14226 |
T |
A |
2: 155,024,710 (GRCm38) |
C196S |
possibly damaging |
Het |
| Gm8297 |
A |
G |
14: 4,986,951 (GRCm38) |
N193S |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,672 (GRCm38) |
R615G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,561,814 (GRCm38) |
E178G |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,348,677 (GRCm38) |
L530H |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,534,805 (GRCm38) |
L120* |
probably null |
Het |
| Kif26b |
T |
A |
1: 178,864,876 (GRCm38) |
S461T |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,352,317 (GRCm38) |
V15E |
unknown |
Het |
| Lama4 |
A |
T |
10: 39,078,847 (GRCm38) |
H1132L |
probably damaging |
Het |
| Ldlrad4 |
T |
C |
18: 68,235,756 (GRCm38) |
S95P |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,235,669 (GRCm38) |
A66S |
possibly damaging |
Het |
| Liph |
G |
T |
16: 21,958,914 (GRCm38) |
L379I |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,501,539 (GRCm38) |
E1624V |
possibly damaging |
Het |
| Matn2 |
A |
T |
15: 34,399,077 (GRCm38) |
H370L |
possibly damaging |
Het |
| Mettl23 |
T |
G |
11: 116,849,270 (GRCm38) |
V189G |
probably benign |
Het |
| Mpp4 |
G |
A |
1: 59,123,513 (GRCm38) |
T543M |
not run |
Het |
| Mrps15 |
A |
T |
4: 126,051,377 (GRCm38) |
N119I |
probably damaging |
Het |
| Olfr203 |
A |
T |
16: 59,303,251 (GRCm38) |
I33F |
probably damaging |
Het |
| Olfr39 |
A |
G |
9: 20,282,412 (GRCm38) |
|
probably benign |
Het |
| Olfr883 |
T |
A |
9: 38,026,667 (GRCm38) |
I287N |
probably damaging |
Het |
| Olfr935 |
T |
A |
9: 38,994,907 (GRCm38) |
H176L |
probably damaging |
Het |
| Olfr963 |
C |
A |
9: 39,669,238 (GRCm38) |
F60L |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,435,901 (GRCm38) |
S324P |
possibly damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,012,680 (GRCm38) |
Y608F |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,695,525 (GRCm38) |
D342G |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,543,528 (GRCm38) |
S143P |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,842,325 (GRCm38) |
S393G |
probably benign |
Het |
| Plec |
A |
T |
15: 76,176,935 (GRCm38) |
I2934N |
probably damaging |
Het |
| Primpol |
G |
T |
8: 46,586,424 (GRCm38) |
P387Q |
probably damaging |
Het |
| Prph2 |
T |
C |
17: 46,910,806 (GRCm38) |
L37S |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,177,719 (GRCm38) |
L17P |
probably damaging |
Het |
| Pycrl |
T |
C |
15: 75,918,289 (GRCm38) |
D171G |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,851,154 (GRCm38) |
N648S |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 91,044,948 (GRCm38) |
T359A |
probably benign |
Het |
| Sap25 |
C |
T |
5: 137,641,924 (GRCm38) |
R66W |
probably benign |
Het |
| Setd6 |
A |
T |
8: 95,716,238 (GRCm38) |
H101L |
probably benign |
Het |
| Slc22a3 |
G |
T |
17: 12,464,463 (GRCm38) |
A171E |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm38) |
|
probably null |
Het |
| Tfap2b |
G |
A |
1: 19,234,307 (GRCm38) |
G447D |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,638,243 (GRCm38) |
V313A |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,926,352 (GRCm38) |
I462N |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,525,942 (GRCm38) |
Y79C |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,038,147 (GRCm38) |
V790A |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 43,190,296 (GRCm38) |
T396A |
possibly damaging |
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 |
|
|
R3892:Ep300
|
UTSW |
15 |
81,619,997 (GRCm38) |
unclassified |
probably benign |
|
|
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 |
|
|
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'- ACCATTTCTGTTGAGTCCGC -3'
(R):5'- TTGGGCTACTGGACGTCTTC -3'
Sequencing Primer
(F):5'- CTGTTGAGTCCGCATCCC -3'
(R):5'- GACGTCTTCGACCAGTCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation