Incidental Mutation 'R8554:Ep300'
ID 660043
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms p300, KAT3B
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 81470329-81536278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81523228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1284 (E1284G)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect unknown
Transcript: ENSMUST00000068387
AA Change: E1284G
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: E1284G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign 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
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
R8331:Ep300 UTSW 15 81,485,411 (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'- GCTAGAAATCCTAGACCTGCCTTC -3'
(R):5'- TTATGACATGAGCCAAATCAGGAAG -3'

Sequencing Primer
(F):5'- CTGCCTTCTAAAAACTCTATACTGG -3'
(R):5'- TGCCTCCTAAGTACAGAGCTTAGAG -3'
Posted On 2021-01-18