Incidental Mutation 'R5393:Ep300'
| ID |
425980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
p300, KAT3B |
| MMRRC Submission |
042965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 81515819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: Y1088C
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: Y1088C
| 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: ENSMUST00000187776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206833
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
A |
T |
16: 88,860,653 (GRCm39) |
Y60* |
probably null |
Het |
| Abca6 |
T |
A |
11: 110,135,121 (GRCm39) |
E221D |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,274 (GRCm39) |
D8G |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,024,869 (GRCm39) |
K809E |
possibly damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,574,011 (GRCm39) |
H4R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,633 (GRCm39) |
S485P |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,864,143 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,216,015 (GRCm39) |
N94I |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,924 (GRCm39) |
N899S |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,997 (GRCm39) |
T463A |
probably benign |
Het |
| Coro2a |
A |
G |
4: 46,542,255 (GRCm39) |
S373P |
probably damaging |
Het |
| Cpsf6 |
G |
C |
10: 117,197,921 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,497,099 (GRCm39) |
N3099K |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,946 (GRCm39) |
E74D |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,391,683 (GRCm39) |
T671S |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,248 (GRCm39) |
S414T |
probably benign |
Het |
| Dyrk2 |
C |
T |
10: 118,695,753 (GRCm39) |
D502N |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,080,598 (GRCm39) |
L376Q |
possibly damaging |
Het |
| Efcab8 |
G |
A |
2: 153,622,903 (GRCm39) |
R24Q |
unknown |
Het |
| Eloc |
A |
C |
1: 16,718,192 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
T |
C |
19: 5,778,733 (GRCm39) |
D152G |
probably damaging |
Het |
| Gm15455 |
G |
A |
1: 33,875,927 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,010,887 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,502 (GRCm39) |
T12A |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,007 (GRCm39) |
|
probably null |
Het |
| Irf9 |
T |
C |
14: 55,843,914 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,277,653 (GRCm39) |
C280* |
probably null |
Het |
| Kcnk18 |
T |
C |
19: 59,208,271 (GRCm39) |
C36R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,603,913 (GRCm39) |
H243Q |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,785,051 (GRCm39) |
N125K |
probably benign |
Het |
| Lce1i |
T |
C |
3: 92,685,042 (GRCm39) |
S45G |
unknown |
Het |
| Lrmda |
A |
C |
14: 22,077,374 (GRCm39) |
D37A |
probably damaging |
Het |
| Marco |
A |
C |
1: 120,413,583 (GRCm39) |
D280E |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,157 (GRCm39) |
I112V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,450 (GRCm39) |
Q180* |
probably null |
Het |
| Npdc1 |
A |
T |
2: 25,298,682 (GRCm39) |
M265L |
probably damaging |
Het |
| Nudcd3 |
T |
C |
11: 6,063,274 (GRCm39) |
K205R |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,326 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Pcdhga5 |
C |
T |
18: 37,829,720 (GRCm39) |
R723C |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 141,964,947 (GRCm39) |
E295D |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,650,499 (GRCm39) |
E314* |
probably null |
Het |
| Ptpro |
A |
G |
6: 137,357,222 (GRCm39) |
N238D |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,159,084 (GRCm39) |
I920V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,187,375 (GRCm39) |
V1338M |
probably damaging |
Het |
| Saa3 |
T |
C |
7: 46,362,085 (GRCm39) |
Y53C |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,650 (GRCm39) |
E398D |
probably benign |
Het |
| Six3 |
T |
C |
17: 85,931,270 (GRCm39) |
S309P |
possibly damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,919 (GRCm39) |
S34P |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,617,829 (GRCm39) |
Q287K |
probably benign |
Het |
| Stard9 |
C |
T |
2: 120,533,387 (GRCm39) |
L522F |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,363 (GRCm39) |
|
probably null |
Het |
| Tbc1d8 |
A |
T |
1: 39,465,169 (GRCm39) |
V73E |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,104 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,370 (GRCm39) |
E1251G |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt5b |
A |
C |
6: 119,417,394 (GRCm39) |
L157R |
probably damaging |
Het |
| Zbtb24 |
T |
A |
10: 41,340,578 (GRCm39) |
V536E |
probably damaging |
Het |
| Zfp593 |
G |
A |
4: 133,972,615 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp995 |
A |
T |
17: 22,099,473 (GRCm39) |
F254I |
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 |
|
|
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'- CTAGGATTTGTATGCCCTTCTAGTAC -3'
(R):5'- AGGCTTTGCATGACAGGGTC -3'
Sequencing Primer
(F):5'- CCTTCTAGTACTTAATCCTCAAAACC -3'
(R):5'- CTTTGCATGACAGGGTCAATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation