Incidental Mutation 'R9659:Ep300'
ID |
727474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9659 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81505273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 631
(Y631C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
[ENSMUST00000206936]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: Y631C
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: Y631C
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 damaging
Transcript: ENSMUST00000185967
AA Change: Y108C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206936
AA Change: Y4C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330070K13Rik |
T |
C |
5: 130,407,876 (GRCm39) |
I112V |
unknown |
Het |
Adcy7 |
A |
G |
8: 89,045,733 (GRCm39) |
T572A |
probably benign |
Het |
Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
A |
G |
16: 97,723,473 (GRCm39) |
S15P |
possibly damaging |
Het |
Cabp1 |
T |
C |
5: 115,311,187 (GRCm39) |
D289G |
possibly damaging |
Het |
Ccdc14 |
A |
G |
16: 34,541,913 (GRCm39) |
I545V |
probably damaging |
Het |
Cep295 |
C |
A |
9: 15,233,846 (GRCm39) |
A2317S |
probably benign |
Het |
Cerkl |
T |
C |
2: 79,223,322 (GRCm39) |
D133G |
possibly damaging |
Het |
Cited4 |
T |
G |
4: 120,524,543 (GRCm39) |
C182G |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,811,034 (GRCm39) |
K828N |
unknown |
Het |
Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
Ect2l |
C |
T |
10: 18,041,347 (GRCm39) |
C369Y |
possibly damaging |
Het |
Elapor1 |
G |
A |
3: 108,377,297 (GRCm39) |
T387I |
possibly damaging |
Het |
Ephb4 |
T |
G |
5: 137,363,743 (GRCm39) |
Y583D |
probably damaging |
Het |
Fbn2 |
C |
G |
18: 58,342,654 (GRCm39) |
R75P |
probably damaging |
Het |
Gabra2 |
T |
C |
5: 71,192,140 (GRCm39) |
D63G |
probably benign |
Het |
Gfra1 |
A |
G |
19: 58,441,652 (GRCm39) |
M93T |
probably damaging |
Het |
Gm21886 |
AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG |
AGAGGCCTG |
18: 80,132,776 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,519,724 (GRCm39) |
H10Q |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,882,025 (GRCm39) |
D256G |
probably benign |
Het |
Herc1 |
A |
C |
9: 66,307,185 (GRCm39) |
I1002L |
probably benign |
Het |
Hpgd |
C |
G |
8: 56,772,075 (GRCm39) |
C182W |
probably damaging |
Het |
Htr5b |
A |
G |
1: 121,455,428 (GRCm39) |
L164P |
possibly damaging |
Het |
Kmo |
T |
C |
1: 175,486,085 (GRCm39) |
F403L |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,168,665 (GRCm39) |
D748Y |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mipep |
A |
G |
14: 61,083,893 (GRCm39) |
T595A |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,232,100 (GRCm39) |
D968G |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,382 (GRCm39) |
T337A |
unknown |
Het |
Nlrp1b |
T |
A |
11: 71,073,132 (GRCm39) |
Q237L |
possibly damaging |
Het |
Nr1h4 |
A |
G |
10: 89,314,638 (GRCm39) |
|
probably null |
Het |
Nxph1 |
A |
G |
6: 9,247,418 (GRCm39) |
T130A |
probably damaging |
Het |
Or10al6 |
T |
G |
17: 38,082,880 (GRCm39) |
F112C |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,091,897 (GRCm39) |
C215S |
possibly damaging |
Het |
Or4m1 |
A |
G |
14: 50,558,181 (GRCm39) |
F37S |
probably benign |
Het |
Or5p4 |
T |
C |
7: 107,680,745 (GRCm39) |
V248A |
probably damaging |
Het |
Or8g21 |
A |
G |
9: 38,906,296 (GRCm39) |
V145A |
possibly damaging |
Het |
Pcsk5 |
A |
G |
19: 17,455,245 (GRCm39) |
Y1062H |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,681,136 (GRCm39) |
I164V |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,854,892 (GRCm39) |
M42K |
possibly damaging |
Het |
Polr2a |
T |
C |
11: 69,625,654 (GRCm39) |
Y1832C |
unknown |
Het |
Prpf4 |
G |
A |
4: 62,334,296 (GRCm39) |
|
probably null |
Het |
Psg16 |
T |
C |
7: 16,824,524 (GRCm39) |
S12P |
possibly damaging |
Het |
Ptpn14 |
T |
A |
1: 189,587,174 (GRCm39) |
M528K |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,318,673 (GRCm39) |
H697Q |
probably benign |
Het |
Reg3a |
T |
G |
6: 78,360,574 (GRCm39) |
C171G |
possibly damaging |
Het |
Slc22a26 |
G |
A |
19: 7,763,798 (GRCm39) |
P412S |
probably benign |
Het |
Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
Tcstv2a |
T |
A |
13: 120,725,754 (GRCm39) |
D139E |
probably damaging |
Het |
Tlk2 |
T |
C |
11: 105,131,263 (GRCm39) |
I203T |
probably benign |
Het |
Tmem120b |
T |
G |
5: 123,253,788 (GRCm39) |
H279Q |
probably damaging |
Het |
Trip4 |
T |
C |
9: 65,740,702 (GRCm39) |
E535G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ubr5 |
A |
T |
15: 37,984,254 (GRCm39) |
L2298I |
|
Het |
Utp20 |
A |
G |
10: 88,653,171 (GRCm39) |
L303P |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,839,860 (GRCm39) |
Y1895H |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
Wdr20rt |
A |
T |
12: 65,273,343 (GRCm39) |
S269C |
probably damaging |
Het |
Zfand4 |
T |
G |
6: 116,282,588 (GRCm39) |
Y54D |
probably damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,963 (GRCm39) |
R373H |
probably damaging |
Het |
Zmiz2 |
A |
G |
11: 6,346,814 (GRCm39) |
E141G |
probably benign |
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 |
|
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 |
|
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'- TGTTCTGCAGACCATGTTATACTC -3'
(R):5'- ACTTGGAAGGCTCCCTTGAG -3'
Sequencing Primer
(F):5'- TGTTATACTCAAACCCAGATCTGC -3'
(R):5'- TTTTTCCACTCGTTTTTAAAAGTGG -3'
|
Posted On |
2022-10-06 |