Incidental Mutation 'R5772:Ep300'
| ID |
445469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep300
|
| Ensembl Gene |
ENSMUSG00000055024 |
| Gene Name |
E1A binding protein p300 |
| Synonyms |
p300, KAT3B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 81524115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
|
| AlphaFold |
B2RWS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068387
|
| SMART Domains |
Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (64/65) |
| 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 |
|---|
| 4932416K20Rik |
G |
A |
8: 105,524,271 (GRCm39) |
|
noncoding transcript |
Het |
| Abcg8 |
A |
T |
17: 84,994,127 (GRCm39) |
E48V |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,911,406 (GRCm39) |
T289A |
probably benign |
Het |
| Atf6 |
T |
A |
1: 170,574,758 (GRCm39) |
D560V |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,404,362 (GRCm39) |
K183N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,730,696 (GRCm39) |
L52P |
probably damaging |
Het |
| Cct3 |
T |
A |
3: 88,208,274 (GRCm39) |
N61K |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 77,002,177 (GRCm39) |
V10A |
unknown |
Het |
| Col26a1 |
G |
A |
5: 136,876,420 (GRCm39) |
Q67* |
probably null |
Het |
| Cyp2d34 |
T |
C |
15: 82,501,341 (GRCm39) |
D329G |
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,422,247 (GRCm39) |
I58F |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,401,931 (GRCm39) |
L269P |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,806,154 (GRCm39) |
G325D |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,707 (GRCm39) |
K2861* |
probably null |
Het |
| Ednra |
A |
G |
8: 78,401,696 (GRCm39) |
I198T |
possibly damaging |
Het |
| Fam120a |
G |
A |
13: 49,034,409 (GRCm39) |
P1068S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,815,084 (GRCm39) |
M3606L |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,953,413 (GRCm39) |
W238R |
probably damaging |
Het |
| Gm7713 |
T |
C |
15: 59,866,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gprin3 |
A |
T |
6: 59,331,398 (GRCm39) |
V303D |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,570,629 (GRCm39) |
V2178D |
possibly damaging |
Het |
| Hoxa11 |
A |
G |
6: 52,222,380 (GRCm39) |
V107A |
possibly damaging |
Het |
| Iqub |
C |
A |
6: 24,454,250 (GRCm39) |
M544I |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,258 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
G |
1: 180,161,818 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,190 (GRCm39) |
V1195E |
probably damaging |
Het |
| Kif12 |
C |
A |
4: 63,084,178 (GRCm39) |
R608M |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,952,709 (GRCm39) |
|
probably null |
Het |
| Lrrc24 |
T |
C |
15: 76,606,910 (GRCm39) |
E162G |
probably damaging |
Het |
| Med6 |
A |
G |
12: 81,626,418 (GRCm39) |
S119P |
probably damaging |
Het |
| Mmab |
A |
C |
5: 114,574,775 (GRCm39) |
L166R |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,566 (GRCm39) |
R112G |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,651,873 (GRCm39) |
K737R |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,970 (GRCm39) |
S4352G |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,517 (GRCm39) |
T262S |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,504,712 (GRCm39) |
D307E |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,057 (GRCm39) |
Y218* |
probably null |
Het |
| Or6d12 |
A |
C |
6: 116,492,912 (GRCm39) |
D58A |
possibly damaging |
Het |
| Pdzrn3 |
G |
A |
6: 101,149,275 (GRCm39) |
S351L |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,597,252 (GRCm39) |
I2804K |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Resp18 |
A |
G |
1: 75,250,644 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,892,908 (GRCm39) |
M259V |
probably benign |
Het |
| Rhot2 |
A |
T |
17: 26,058,781 (GRCm39) |
S540T |
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,241,282 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,137,265 (GRCm39) |
Y216C |
probably damaging |
Het |
| Scgb2b18 |
G |
A |
7: 32,873,255 (GRCm39) |
L5F |
unknown |
Het |
| Slamf7 |
T |
C |
1: 171,466,838 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
T |
C |
19: 6,590,479 (GRCm39) |
N237S |
possibly damaging |
Het |
| Spen |
A |
T |
4: 141,205,495 (GRCm39) |
V1044D |
unknown |
Het |
| Sqor |
A |
T |
2: 122,651,261 (GRCm39) |
M175L |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tars3 |
T |
G |
7: 65,333,873 (GRCm39) |
F632V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,191 (GRCm39) |
V1008A |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,015,039 (GRCm39) |
H554R |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,744 (GRCm39) |
D1256V |
possibly damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,794 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Ttc23l |
C |
T |
15: 10,551,555 (GRCm39) |
C57Y |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,988,949 (GRCm39) |
C158S |
probably benign |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,647 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp629 |
T |
A |
7: 127,210,307 (GRCm39) |
I501F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,702 (GRCm39) |
Y542C |
probably damaging |
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 |
|
|
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'- TGCACAAGACCTTAACTTGGTAAC -3'
(R):5'- TGAACATGCATGCCGAAGAAAC -3'
Sequencing Primer
(F):5'- ATTTCTAGGATTGCCATCTACCAGAC -3'
(R):5'- TGCATGCCGAAGAAACACAAGTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation