Incidental Mutation 'R8331:Ep300'
ID |
644392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
067860-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81485411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 133
(S133P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: S133P
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: S133P
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 |
0.0789 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
C |
A |
12: 84,650,726 (GRCm39) |
A545S |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,211,923 (GRCm39) |
S195R |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,539,653 (GRCm39) |
R69G |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,882 (GRCm39) |
Q1149R |
probably benign |
Het |
As3mt |
A |
T |
19: 46,697,445 (GRCm39) |
E71V |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,217 (GRCm39) |
V372E |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,912,703 (GRCm39) |
N586K |
probably benign |
Het |
Bmp2k |
T |
C |
5: 97,192,928 (GRCm39) |
F259S |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,607,290 (GRCm39) |
T1364A |
|
Het |
Casp7 |
T |
A |
19: 56,429,397 (GRCm39) |
I261N |
probably damaging |
Het |
Ccdc154 |
A |
G |
17: 25,386,927 (GRCm39) |
K319E |
probably benign |
Het |
Cdc42bpg |
C |
A |
19: 6,363,477 (GRCm39) |
L446I |
probably benign |
Het |
Cdkl3 |
A |
T |
11: 51,917,704 (GRCm39) |
T334S |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,832,173 (GRCm39) |
L1366Q |
probably damaging |
Het |
Chp2 |
G |
A |
7: 121,821,133 (GRCm39) |
D165N |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,406,545 (GRCm39) |
M782K |
probably damaging |
Het |
Col20a1 |
T |
A |
2: 180,638,559 (GRCm39) |
I433N |
possibly damaging |
Het |
Col4a2 |
A |
T |
8: 11,463,985 (GRCm39) |
R320* |
probably null |
Het |
Ctsc |
A |
G |
7: 87,946,328 (GRCm39) |
H119R |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,345,053 (GRCm39) |
H2121R |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
D630045J12Rik |
T |
C |
6: 38,125,409 (GRCm39) |
E1535G |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,302,242 (GRCm39) |
D1887E |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,001,983 (GRCm39) |
E3903G |
probably benign |
Het |
Eif4a3l2 |
T |
C |
6: 116,529,323 (GRCm39) |
I400T |
probably damaging |
Het |
Ercc3 |
T |
C |
18: 32,373,871 (GRCm39) |
S73P |
probably damaging |
Het |
Fis1 |
T |
C |
5: 136,991,987 (GRCm39) |
|
probably null |
Het |
Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
Gm17087 |
A |
G |
17: 8,785,539 (GRCm39) |
W55R |
probably damaging |
Het |
Gm3404 |
A |
T |
5: 146,462,759 (GRCm39) |
S41C |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,458,706 (GRCm39) |
S96P |
possibly damaging |
Het |
Irf3 |
C |
T |
7: 44,650,383 (GRCm39) |
P300S |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,860,999 (GRCm39) |
C214Y |
probably damaging |
Het |
Krtap5-3 |
T |
A |
7: 141,755,563 (GRCm39) |
C133* |
probably null |
Het |
Map3k12 |
T |
A |
15: 102,410,766 (GRCm39) |
R448* |
probably null |
Het |
Map4k2 |
C |
G |
19: 6,402,853 (GRCm39) |
A738G |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,428,827 (GRCm39) |
K730N |
probably damaging |
Het |
Mpp3 |
C |
T |
11: 101,902,541 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
A |
5: 65,964,943 (GRCm39) |
D997E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,102,371 (GRCm39) |
P390S |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,843,036 (GRCm39) |
S380P |
probably damaging |
Het |
Nup210 |
C |
T |
6: 91,030,648 (GRCm39) |
D878N |
possibly damaging |
Het |
Odad3 |
C |
T |
9: 21,903,007 (GRCm39) |
R441H |
probably damaging |
Het |
Or4k49 |
A |
G |
2: 111,494,727 (GRCm39) |
D52G |
possibly damaging |
Het |
Or8c18 |
A |
G |
9: 38,203,381 (GRCm39) |
I47V |
possibly damaging |
Het |
Osbpl9 |
C |
A |
4: 108,923,378 (GRCm39) |
W427L |
probably damaging |
Het |
Pcdhb12 |
T |
C |
18: 37,570,342 (GRCm39) |
V496A |
probably damaging |
Het |
Pdlim1 |
G |
A |
19: 40,218,995 (GRCm39) |
T212I |
possibly damaging |
Het |
Phc2 |
C |
T |
4: 128,605,987 (GRCm39) |
Q270* |
probably null |
Het |
Pi4kb |
G |
A |
3: 94,903,995 (GRCm39) |
R527Q |
probably null |
Het |
Platr25 |
G |
T |
13: 62,848,717 (GRCm39) |
H48Q |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,953,163 (GRCm39) |
T1577M |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,083,263 (GRCm39) |
V915M |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,480 (GRCm39) |
L928S |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,752,521 (GRCm39) |
N434S |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,140,545 (GRCm39) |
L246H |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,169,218 (GRCm39) |
C360S |
possibly damaging |
Het |
Stk10 |
A |
G |
11: 32,538,928 (GRCm39) |
T256A |
|
Het |
Tatdn3 |
A |
T |
1: 190,778,408 (GRCm39) |
L261Q |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,216,985 (GRCm39) |
F246L |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,471,157 (GRCm39) |
V487A |
|
Het |
Tmem41a |
A |
C |
16: 21,766,116 (GRCm39) |
|
probably null |
Het |
Togaram2 |
G |
A |
17: 72,036,221 (GRCm39) |
V924M |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,969,131 (GRCm39) |
F185S |
probably damaging |
Het |
Traf1 |
T |
C |
2: 34,838,370 (GRCm39) |
D156G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,710,482 (GRCm39) |
E8513G |
unknown |
Het |
Txlna |
C |
A |
4: 129,533,279 (GRCm39) |
S83I |
probably damaging |
Het |
Utrn |
T |
G |
10: 12,490,363 (GRCm39) |
T6P |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,887 (GRCm39) |
S821T |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,509,702 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 119,930,794 (GRCm39) |
I917V |
probably benign |
Het |
Wscd2 |
A |
G |
5: 113,688,996 (GRCm39) |
M1V |
probably null |
Het |
Xkr6 |
A |
G |
14: 64,056,392 (GRCm39) |
H357R |
unknown |
Het |
Zfhx2 |
G |
T |
14: 55,309,444 (GRCm39) |
T885K |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,320,554 (GRCm39) |
E153K |
probably benign |
Het |
Zmynd11 |
A |
G |
13: 9,745,190 (GRCm39) |
M243T |
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 |
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'- GTGGCGATATCAGTCAGCTTC -3'
(R):5'- TGATTGGGCATTATCCCTTGTC -3'
Sequencing Primer
(F):5'- AGCTTCAGACAAGTCTTGGC -3'
(R):5'- GTCCATTGCCTGCAGCCAAC -3'
|
Posted On |
2020-09-02 |