Incidental Mutation 'R0534:Ep300'
ID 49389
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms p300, KAT3B
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81470329-81536278 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 81485097 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

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: ENSMUST00000189338
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging Het
Other mutations in Ep300
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCTTAACTTGGTGTTATGCCTCGGTTC -3'
(R):5'- CAGACCTCAGCAGTTCTGACAGC -3'

Sequencing Primer
(F):5'- gaacttagaaatccaccttgcc -3'
(R):5'- ATCGCCACCATTGGTTAGTC -3'
Posted On 2013-06-12