Incidental Mutation 'R0244:Ep300'
ID 38015
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms KAT3B, p300
MMRRC Submission 038482-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0244 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81585351-81652077 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81640128 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1386 (P1386S)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect unknown
Transcript: ENSMUST00000068387
AA Change: P1386S
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: P1386S

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1442 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (88/89)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,286,491 (GRCm38) probably null Het
Adamdec1 A T 14: 68,568,723 (GRCm38) C434* probably null Het
Adprhl1 A G 8: 13,242,391 (GRCm38) probably benign Het
Ago1 T A 4: 126,463,706 (GRCm38) I59F possibly damaging Het
Arel1 T C 12: 84,920,693 (GRCm38) T786A probably damaging Het
Arhgap26 A G 18: 39,363,131 (GRCm38) K117R probably benign Het
Atp6v0b C T 4: 117,884,622 (GRCm38) G204D probably damaging Het
Bace2 T A 16: 97,436,773 (GRCm38) probably null Het
Camk4 G A 18: 33,179,625 (GRCm38) probably null Het
Cdh26 C T 2: 178,481,632 (GRCm38) R675C possibly damaging Het
Cep152 T C 2: 125,564,214 (GRCm38) E1466G probably benign Het
Ces3b T C 8: 105,092,635 (GRCm38) F441S probably damaging Het
Cfap52 T C 11: 67,926,382 (GRCm38) T562A possibly damaging Het
Clca3a2 C A 3: 144,813,898 (GRCm38) M238I possibly damaging Het
Cntnap5c A T 17: 58,102,168 (GRCm38) D467V probably damaging Het
Col7a1 T A 9: 108,972,184 (GRCm38) probably null Het
Cstf1 A G 2: 172,377,710 (GRCm38) N247S possibly damaging Het
Dffb G T 4: 153,974,615 (GRCm38) N68K probably benign Het
Duox2 C T 2: 122,291,860 (GRCm38) G595S probably benign Het
Eftud2 T A 11: 102,864,725 (GRCm38) I228F probably damaging Het
Elmo3 T C 8: 105,309,171 (GRCm38) V578A probably benign Het
Elp2 A G 18: 24,631,471 (GRCm38) D625G possibly damaging Het
Fam120b A G 17: 15,417,637 (GRCm38) D610G probably damaging Het
Fastk A T 5: 24,442,178 (GRCm38) probably benign Het
Fbxl6 A G 15: 76,537,191 (GRCm38) S252P probably damaging Het
Fbxo43 T C 15: 36,161,793 (GRCm38) K423E probably damaging Het
Filip1 T A 9: 79,819,462 (GRCm38) E625V possibly damaging Het
Fkbp9 T A 6: 56,856,378 (GRCm38) Y283* probably null Het
Gigyf2 T A 1: 87,379,015 (GRCm38) D142E possibly damaging Het
Gm10142 T C 10: 77,716,014 (GRCm38) probably null Het
Golga5 T C 12: 102,476,188 (GRCm38) V262A probably benign Het
Hectd4 T C 5: 121,329,605 (GRCm38) V2539A probably benign Het
Ica1 G T 6: 8,653,632 (GRCm38) S335* probably null Het
Itga1 A T 13: 115,006,897 (GRCm38) probably benign Het
Itgb1 T C 8: 128,717,685 (GRCm38) probably benign Het
Itpr1 G A 6: 108,473,589 (GRCm38) V1960I probably benign Het
Kcnh4 C T 11: 100,746,932 (GRCm38) G633E probably benign Het
Kprp C T 3: 92,825,411 (GRCm38) V111I probably benign Het
Lamc3 T C 2: 31,940,721 (GRCm38) I1490T probably damaging Het
Lcp1 A T 14: 75,227,001 (GRCm38) D554V possibly damaging Het
Lgi3 A G 14: 70,534,698 (GRCm38) T228A probably benign Het
Lipa A T 19: 34,501,541 (GRCm38) F260I probably damaging Het
Lrriq1 C T 10: 103,215,773 (GRCm38) E373K probably damaging Het
Map6 G A 7: 99,336,836 (GRCm38) G649D probably benign Het
Mccc1 A G 3: 35,990,047 (GRCm38) probably null Het
Mical3 A T 6: 120,957,722 (GRCm38) S1799T probably benign Het
Mmp23 T A 4: 155,652,132 (GRCm38) T151S probably damaging Het
Myo1d T A 11: 80,674,708 (GRCm38) N401I probably damaging Het
Myo9b T A 8: 71,321,813 (GRCm38) S323T probably damaging Het
Nbn G T 4: 15,979,353 (GRCm38) W446L probably benign Het
Nedd1 A T 10: 92,716,265 (GRCm38) probably benign Het
Ngef C A 1: 87,487,962 (GRCm38) probably benign Het
Nup153 A T 13: 46,693,936 (GRCm38) N672K probably benign Het
Olfr1308 T C 2: 111,961,016 (GRCm38) N19S probably benign Het
Olfr149 T A 9: 39,702,173 (GRCm38) I199F probably damaging Het
Olfr1509 T C 14: 52,450,512 (GRCm38) V33A probably benign Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Palm2 T G 4: 57,710,177 (GRCm38) V374G possibly damaging Het
Pdlim3 C A 8: 45,908,460 (GRCm38) probably benign Het
Pmfbp1 G A 8: 109,541,673 (GRCm38) E951K probably damaging Het
Pop1 T A 15: 34,515,891 (GRCm38) C548* probably null Het
Ppp1r16a C T 15: 76,690,799 (GRCm38) probably benign Het
Ptpdc1 A T 13: 48,585,980 (GRCm38) N658K probably benign Het
Ptprk A C 10: 28,206,225 (GRCm38) E63D possibly damaging Het
Rtf1 C T 2: 119,732,877 (GRCm38) R712W probably damaging Het
Samd7 A C 3: 30,751,073 (GRCm38) T2P probably benign Het
Sft2d1 A G 17: 8,319,422 (GRCm38) T52A probably benign Het
Slc25a26 A G 6: 94,510,833 (GRCm38) H91R probably damaging Het
Slc5a4a A G 10: 76,189,152 (GRCm38) E621G possibly damaging Het
Slf1 A T 13: 77,126,632 (GRCm38) L28* probably null Het
Snapc1 C T 12: 73,975,032 (GRCm38) R81C probably damaging Het
Sorcs2 G A 5: 36,397,553 (GRCm38) probably benign Het
Tacc2 T C 7: 130,751,825 (GRCm38) probably benign Het
Tas2r140 A G 6: 133,055,327 (GRCm38) V156A possibly damaging Het
Terf2ip C A 8: 112,018,164 (GRCm38) T371K possibly damaging Het
Tifa C T 3: 127,796,888 (GRCm38) L103F probably damaging Het
Tmco3 A G 8: 13,292,037 (GRCm38) N104D probably damaging Het
Tmem259 T A 10: 79,978,963 (GRCm38) D240V probably damaging Het
Trim60 C T 8: 65,001,048 (GRCm38) R183H probably benign Het
Trps1 T C 15: 50,664,743 (GRCm38) N725D probably damaging Het
Ttn C T 2: 76,814,806 (GRCm38) V12902M probably damaging Het
Ubxn4 G A 1: 128,262,904 (GRCm38) E256K probably benign Het
Unc79 A G 12: 103,112,891 (GRCm38) K1772E probably damaging Het
Vwde C T 6: 13,193,126 (GRCm38) V405I probably benign Het
Wdr18 T A 10: 79,966,408 (GRCm38) D290E probably damaging Het
Wdr92 T C 11: 17,229,851 (GRCm38) L284P probably damaging Het
Wwc2 G A 8: 47,900,721 (GRCm38) A126V probably benign Het
Zfp882 A T 8: 71,913,523 (GRCm38) I105F possibly damaging Het
Zfp942 A T 17: 21,928,572 (GRCm38) C359S probably benign Het
Other mutations in Ep300
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7388:Ep300 UTSW 15 81,648,366 (GRCm38) missense unknown
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'- TTGCCATCTACCAGACTTGGGACC -3'
(R):5'- TCCGCAAGCATTTAGGACGGAAG -3'

Sequencing Primer
(F):5'- CTGAATCAGGAGAGGTCACTGTTC -3'
(R):5'- CGAGGTAAGATATGTATACCCTCC -3'
Posted On 2013-05-23