Incidental Mutation 'R5366:Ep300'
ID |
429376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ep300
|
Ensembl Gene |
ENSMUSG00000055024 |
Gene Name |
E1A binding protein p300 |
Synonyms |
p300, KAT3B |
MMRRC Submission |
042944-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81470329-81536278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81500301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 57
(L57M)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068387]
[ENSMUST00000206936]
|
AlphaFold |
B2RWS6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000068387
AA Change: L534M
|
SMART Domains |
Protein: ENSMUSP00000066789 Gene: ENSMUSG00000055024 AA Change: L534M
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 |
probably benign
Transcript: ENSMUST00000185967
AA Change: L57M
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190035
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206936
|
Meta Mutation Damage Score |
0.0847 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (77/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,831,665 (GRCm39) |
N1229S |
possibly damaging |
Het |
Adgre1 |
G |
A |
17: 57,709,817 (GRCm39) |
C158Y |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,994,099 (GRCm39) |
S5128T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,542,841 (GRCm39) |
C322* |
probably null |
Het |
Ano1 |
T |
A |
7: 144,207,946 (GRCm39) |
T113S |
possibly damaging |
Het |
Apeh |
A |
T |
9: 107,969,005 (GRCm39) |
S321T |
probably benign |
Het |
Atg4d |
T |
A |
9: 21,179,948 (GRCm39) |
V273D |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,279 (GRCm39) |
D489G |
probably damaging |
Het |
Cd47 |
T |
C |
16: 49,716,736 (GRCm39) |
F256L |
probably damaging |
Het |
Cd84 |
A |
T |
1: 171,700,872 (GRCm39) |
D211V |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,230,802 (GRCm39) |
L942P |
probably damaging |
Het |
Cfh |
A |
C |
1: 140,063,973 (GRCm39) |
C434W |
probably damaging |
Het |
Chst2 |
T |
C |
9: 95,287,518 (GRCm39) |
D276G |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Degs1 |
C |
A |
1: 182,106,927 (GRCm39) |
D111Y |
probably benign |
Het |
Dhps |
T |
A |
8: 85,801,413 (GRCm39) |
D313E |
probably damaging |
Het |
Dipk1c |
T |
A |
18: 84,748,720 (GRCm39) |
L106Q |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,815,615 (GRCm39) |
C1645R |
probably damaging |
Het |
Efcab7 |
A |
C |
4: 99,761,931 (GRCm39) |
D407A |
possibly damaging |
Het |
Eif3a |
G |
T |
19: 60,767,971 (GRCm39) |
T189N |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,867,513 (GRCm39) |
I300L |
probably benign |
Het |
Fzd8 |
T |
C |
18: 9,213,880 (GRCm39) |
S321P |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,941,713 (GRCm39) |
M657K |
possibly damaging |
Het |
Gm9920 |
T |
A |
15: 54,975,705 (GRCm39) |
|
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,697,739 (GRCm39) |
I668T |
probably damaging |
Het |
Irgc |
C |
T |
7: 24,132,851 (GRCm39) |
|
probably benign |
Het |
Jsrp1 |
G |
T |
10: 80,646,030 (GRCm39) |
S143* |
probably null |
Het |
Kctd4 |
T |
C |
14: 76,200,259 (GRCm39) |
Y77H |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,924 (GRCm39) |
I351N |
probably damaging |
Het |
Klra17 |
C |
T |
6: 129,851,858 (GRCm39) |
E5K |
possibly damaging |
Het |
Mapk8 |
A |
T |
14: 33,112,686 (GRCm39) |
V211E |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,326,725 (GRCm39) |
Y1208H |
probably benign |
Het |
Mrps16 |
A |
T |
14: 20,441,523 (GRCm39) |
S94T |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,361,287 (GRCm39) |
T1533A |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,651,518 (GRCm39) |
D287V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,971,086 (GRCm39) |
T2476A |
probably damaging |
Het |
Olfm2 |
T |
A |
9: 20,579,708 (GRCm39) |
T356S |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,823 (GRCm39) |
Y35C |
possibly damaging |
Het |
P2rx2 |
T |
A |
5: 110,489,694 (GRCm39) |
N108I |
probably damaging |
Het |
Pbx4 |
A |
T |
8: 70,322,820 (GRCm39) |
T309S |
probably benign |
Het |
Phyhip |
C |
A |
14: 70,704,295 (GRCm39) |
H171Q |
probably benign |
Het |
Pou4f3 |
A |
G |
18: 42,528,819 (GRCm39) |
E254G |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,052,899 (GRCm39) |
H845Q |
probably damaging |
Het |
Rgcc |
T |
C |
14: 79,529,123 (GRCm39) |
T111A |
probably benign |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
C |
A |
5: 113,398,905 (GRCm39) |
E722D |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,272,181 (GRCm39) |
D101E |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,211,152 (GRCm39) |
|
probably null |
Het |
Spata31 |
A |
T |
13: 65,068,273 (GRCm39) |
E140D |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,678 (GRCm39) |
S1537T |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
G |
T |
14: 101,845,412 (GRCm39) |
T162K |
possibly damaging |
Het |
Tmem163 |
A |
C |
1: 127,428,042 (GRCm39) |
|
probably benign |
Het |
Tmem43 |
T |
C |
6: 91,455,240 (GRCm39) |
V72A |
probably benign |
Het |
Tmprss11c |
G |
A |
5: 86,429,993 (GRCm39) |
T24I |
possibly damaging |
Het |
Trerf1 |
A |
T |
17: 47,626,116 (GRCm39) |
|
noncoding transcript |
Het |
Trim44 |
A |
G |
2: 102,230,476 (GRCm39) |
L185P |
probably damaging |
Het |
Tspyl1 |
A |
G |
10: 34,158,341 (GRCm39) |
D22G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tyro3 |
G |
A |
2: 119,635,312 (GRCm39) |
R201Q |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,930,741 (GRCm39) |
K206N |
probably benign |
Het |
Usp17lb |
G |
T |
7: 104,489,615 (GRCm39) |
H436Q |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,971,853 (GRCm39) |
I584T |
possibly damaging |
Het |
Vrk1 |
T |
A |
12: 106,022,078 (GRCm39) |
M131K |
possibly damaging |
Het |
Wdr87-ps |
A |
C |
7: 29,232,964 (GRCm39) |
|
noncoding transcript |
Het |
Zfp827 |
A |
T |
8: 79,912,333 (GRCm39) |
K986N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,419 (GRCm39) |
M821T |
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 |
|
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'- AAAGTCTGTGTTTTCCTATTTCACTT -3'
(R):5'- GTCTGTGACTCACATGTCAAGTA -3'
Sequencing Primer
(F):5'- CCAATGAGGTCTGGAGATCATTCC -3'
(R):5'- ACTCACATGTCAAGTATATATGTGTG -3'
|
Posted On |
2016-09-06 |