Incidental Mutation 'R2136:Ep300'
ID |
235843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
040139-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2136 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81524648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1393
(Y1393N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: Y1393N
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: Y1393N
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 |
noncoding transcript
Transcript: ENSMUST00000206431
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
G |
16: 19,702,530 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,114,680 (GRCm39) |
S279L |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,981,369 (GRCm39) |
L85P |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,101 (GRCm39) |
K290R |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,780,674 (GRCm39) |
T1909A |
probably benign |
Het |
Asap1 |
T |
C |
15: 63,982,808 (GRCm39) |
D832G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,795,552 (GRCm39) |
L702Q |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,430 (GRCm39) |
V1774A |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,903,248 (GRCm39) |
E48G |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,805,493 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
CA |
1: 74,956,432 (GRCm39) |
|
probably null |
Het |
Cln3 |
A |
C |
7: 126,181,971 (GRCm39) |
S30R |
probably benign |
Het |
Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,265,163 (GRCm39) |
V85E |
probably benign |
Het |
Crocc |
G |
A |
4: 140,760,265 (GRCm39) |
R789W |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,572,397 (GRCm39) |
I212V |
probably benign |
Het |
Cyp2t4 |
C |
A |
7: 26,857,585 (GRCm39) |
F391L |
probably benign |
Het |
Dhx35 |
G |
T |
2: 158,673,781 (GRCm39) |
R404L |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,869,942 (GRCm39) |
L826S |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Fap |
C |
T |
2: 62,354,551 (GRCm39) |
G446D |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 16,288,347 (GRCm39) |
I392T |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
C |
10: 111,896,381 (GRCm39) |
V56A |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,820,517 (GRCm39) |
V7A |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,509,410 (GRCm39) |
A3646V |
probably damaging |
Het |
Ipo9 |
A |
T |
1: 135,322,023 (GRCm39) |
I569N |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,267,763 (GRCm39) |
P151Q |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,128,094 (GRCm39) |
D491G |
possibly damaging |
Het |
Kctd7 |
T |
C |
5: 130,181,207 (GRCm39) |
L210P |
probably damaging |
Het |
Lifr |
C |
A |
15: 7,211,338 (GRCm39) |
D625E |
possibly damaging |
Het |
Lrguk |
T |
C |
6: 34,020,454 (GRCm39) |
V201A |
probably benign |
Het |
Mark1 |
A |
G |
1: 184,651,770 (GRCm39) |
V135A |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,870,722 (GRCm39) |
D70E |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,275,000 (GRCm39) |
Y434H |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,695,540 (GRCm39) |
Q1556K |
probably damaging |
Het |
Nav1 |
G |
A |
1: 135,382,174 (GRCm39) |
T1400I |
probably null |
Het |
Or1j11 |
A |
G |
2: 36,311,950 (GRCm39) |
D180G |
probably damaging |
Het |
Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
Or4b13 |
A |
C |
2: 90,082,597 (GRCm39) |
V245G |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,961 (GRCm39) |
V62A |
probably damaging |
Het |
Or4p7 |
T |
A |
2: 88,221,663 (GRCm39) |
I24N |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,584 (GRCm39) |
K270E |
probably damaging |
Het |
Or5e1 |
G |
A |
7: 108,354,430 (GRCm39) |
M122I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,881,943 (GRCm39) |
Q67L |
probably damaging |
Het |
Pan2 |
T |
G |
10: 128,149,506 (GRCm39) |
V522G |
possibly damaging |
Het |
Pard3 |
T |
G |
8: 128,103,366 (GRCm39) |
|
probably null |
Het |
Pcdhgc5 |
G |
T |
18: 37,953,166 (GRCm39) |
A147S |
possibly damaging |
Het |
Pcsk9 |
T |
C |
4: 106,303,967 (GRCm39) |
I506V |
probably benign |
Het |
Polr3d |
GCCCCC |
GCCCC |
14: 70,680,487 (GRCm39) |
|
probably null |
Het |
Prdm4 |
G |
A |
10: 85,729,215 (GRCm39) |
R731* |
probably null |
Het |
Prdx6b |
T |
A |
2: 80,123,507 (GRCm39) |
D105E |
probably damaging |
Het |
Prss3b |
A |
G |
6: 41,012,396 (GRCm39) |
F6S |
probably benign |
Het |
Rab42 |
A |
G |
4: 132,029,790 (GRCm39) |
L144P |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,171,661 (GRCm39) |
K104M |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,230,320 (GRCm39) |
I1122K |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,881,038 (GRCm39) |
V131A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,525,597 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,898,527 (GRCm39) |
I645N |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,367,028 (GRCm39) |
K624R |
probably benign |
Het |
Sgk2 |
C |
A |
2: 162,841,099 (GRCm39) |
|
probably null |
Het |
Sirt4 |
A |
G |
5: 115,617,760 (GRCm39) |
S299P |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,321,473 (GRCm39) |
S1322P |
possibly damaging |
Het |
Slit2 |
C |
T |
5: 48,461,567 (GRCm39) |
A1521V |
probably benign |
Het |
Socs7 |
T |
G |
11: 97,263,933 (GRCm39) |
V275G |
possibly damaging |
Het |
Spink11 |
G |
A |
18: 44,323,554 (GRCm39) |
P102S |
probably benign |
Het |
Tacc3 |
A |
G |
5: 33,828,748 (GRCm39) |
N534D |
probably damaging |
Het |
Tas2r115 |
T |
C |
6: 132,714,309 (GRCm39) |
Y214C |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,650,454 (GRCm39) |
M875K |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,479,869 (GRCm39) |
L41Q |
possibly damaging |
Het |
Vasn |
T |
A |
16: 4,467,659 (GRCm39) |
C535* |
probably null |
Het |
Vcan |
T |
A |
13: 89,837,856 (GRCm39) |
I2563F |
probably damaging |
Het |
Vmn2r63 |
T |
G |
7: 42,576,297 (GRCm39) |
Q505H |
probably damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,781 (GRCm39) |
Q475H |
probably damaging |
Het |
Zbtb43 |
T |
C |
2: 33,344,532 (GRCm39) |
Y231C |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,266 (GRCm39) |
V931A |
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 |
|
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 |
|
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'- TAGCATGTACCAGGTCAGTCC -3'
(R):5'- ACAAACTGAGTTCATGGCTCC -3'
Sequencing Primer
(F):5'- TGTACCAGGTCAGTCCTACATAG -3'
(R):5'- AGTTCATGGCTCCACTGTATCATAAC -3'
|
Posted On |
2014-10-01 |