Incidental Mutation 'R7388:Ep300'
| ID |
573281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
KAT3B, p300 |
| MMRRC Submission |
045470-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7388 (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 81648366 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1602
(C1602R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: C1602R
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: C1602R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013F07Rik |
T |
C |
3: 108,543,499 (GRCm38) |
F86L |
possibly damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,422,953 (GRCm38) |
E436G |
probably damaging |
Het |
| Agbl5 |
T |
A |
5: 30,903,239 (GRCm38) |
L759* |
probably null |
Het |
| Ankrd13b |
T |
C |
11: 77,472,757 (GRCm38) |
D460G |
probably benign |
Het |
| Apol10a |
A |
G |
15: 77,489,025 (GRCm38) |
D287G |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 65,024,268 (GRCm38) |
Y391* |
probably null |
Het |
| Asz1 |
G |
T |
6: 18,074,901 (GRCm38) |
S271R |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,340,113 (GRCm38) |
N325D |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,255,009 (GRCm38) |
L247Q |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 148,952,393 (GRCm38) |
D1704G |
unknown |
Het |
| Cdk5rap1 |
G |
A |
2: 154,360,675 (GRCm38) |
R212W |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,019,459 (GRCm38) |
T444S |
probably benign |
Het |
| Cers2 |
T |
G |
3: 95,321,345 (GRCm38) |
F160V |
probably benign |
Het |
| Cga |
T |
A |
4: 34,907,076 (GRCm38) |
M99K |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,065,347 (GRCm38) |
R138* |
probably null |
Het |
| Dao |
T |
G |
5: 114,015,212 (GRCm38) |
*133E |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,225,455 (GRCm38) |
C544S |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,658,246 (GRCm38) |
V98E |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,192,317 (GRCm38) |
T434S |
possibly damaging |
Het |
| Dntt |
A |
G |
19: 41,038,979 (GRCm38) |
N162D |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,745,461 (GRCm38) |
V79A |
probably benign |
Het |
| E130309D02Rik |
G |
A |
5: 143,311,845 (GRCm38) |
A149V |
probably benign |
Het |
| Flrt3 |
C |
T |
2: 140,661,752 (GRCm38) |
|
probably null |
Het |
| Gk2 |
A |
G |
5: 97,456,898 (GRCm38) |
V27A |
probably damaging |
Het |
| Gm11639 |
T |
C |
11: 104,721,045 (GRCm38) |
L571P |
probably damaging |
Het |
| Gnpat |
T |
G |
8: 124,887,814 (GRCm38) |
M663R |
probably benign |
Het |
| Hc |
A |
T |
2: 34,984,847 (GRCm38) |
|
probably null |
Het |
| Il12rb1 |
A |
G |
8: 70,810,627 (GRCm38) |
Y67C |
probably damaging |
Het |
| Kmt2b |
C |
T |
7: 30,581,960 (GRCm38) |
D1229N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,249,076 (GRCm38) |
T650A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,583,897 (GRCm38) |
R948* |
probably null |
Het |
| Map3k21 |
T |
C |
8: 125,927,597 (GRCm38) |
I385T |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,976,252 (GRCm38) |
S506T |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,123,197 (GRCm38) |
F409S |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,565,066 (GRCm38) |
I896N |
probably benign |
Het |
| Noxred1 |
C |
A |
12: 87,227,025 (GRCm38) |
V81L |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,598,489 (GRCm38) |
I1225F |
probably damaging |
Het |
| Olfr30 |
C |
T |
11: 58,455,655 (GRCm38) |
C98Y |
probably damaging |
Het |
| Otos |
T |
A |
1: 92,644,519 (GRCm38) |
|
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,468,667 (GRCm38) |
I399T |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,239,304 (GRCm38) |
V2807I |
not run |
Het |
| Prrx2 |
A |
G |
2: 30,880,890 (GRCm38) |
E235G |
probably damaging |
Het |
| Rab13 |
T |
C |
3: 90,221,020 (GRCm38) |
I41T |
probably damaging |
Het |
| Rai1 |
A |
C |
11: 60,189,375 (GRCm38) |
T1422P |
possibly damaging |
Het |
| Rcn1 |
C |
T |
2: 105,391,991 (GRCm38) |
V217M |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,688,654 (GRCm38) |
V408E |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,428,364 (GRCm38) |
A121T |
|
Het |
| Slc35d1 |
A |
G |
4: 103,189,785 (GRCm38) |
|
probably null |
Het |
| Slc39a6 |
A |
T |
18: 24,584,049 (GRCm38) |
V642E |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,693,084 (GRCm38) |
A69V |
probably benign |
Het |
| Spink6 |
A |
T |
18: 44,082,319 (GRCm38) |
T79S |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,519,880 (GRCm38) |
D170G |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,052,619 (GRCm38) |
S79P |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,967,908 (GRCm38) |
Y201H |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,205,858 (GRCm38) |
|
probably null |
Het |
| Tmem14a |
C |
T |
1: 21,229,511 (GRCm38) |
Q122* |
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,222,418 (GRCm38) |
|
probably benign |
Het |
| Trmt61a |
A |
G |
12: 111,678,887 (GRCm38) |
I86V |
possibly damaging |
Het |
| Tubgcp4 |
G |
A |
2: 121,189,966 (GRCm38) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 12,176,741 (GRCm38) |
Y183* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,054,876 (GRCm38) |
W112R |
probably benign |
Het |
| Vpreb1 |
T |
C |
16: 16,868,652 (GRCm38) |
K125E |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,574,772 (GRCm38) |
F637L |
probably 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 |
|
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 |
|
|
R7775:Ep300
|
UTSW |
15 |
81,586,686 (GRCm38) |
missense |
unknown |
|
|
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'- CACTCTGACCCCTGCCAGAG -3'
(R):5'- TGACTCTGTGTATGGAGCTCC -3'
Sequencing Primer
(F):5'- GCATCAGATCTCATTACAGGTGG -3'
(R):5'- TCCACCAGCATGCACATGGTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation