Incidental Mutation 'R6925:Ep300'
ID 541123
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms KAT3B, p300
MMRRC Submission 045043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6925 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81585351-81652077 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81649981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 2080 (Q2080K)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect probably benign
Transcript: ENSMUST00000068387
AA Change: Q2080K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: Q2080K

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,222,707 (GRCm38) Q177R possibly damaging Het
Acat1 A T 9: 53,592,029 (GRCm38) V170E probably benign Het
Atp2b2 T A 6: 113,760,720 (GRCm38) I902F probably damaging Het
Cacna1d A G 14: 30,051,637 (GRCm38) V1697A probably benign Het
Ccdc14 T A 16: 34,690,749 (GRCm38) F31Y probably benign Het
Ccdc17 T A 4: 116,598,210 (GRCm38) V250E probably damaging Het
Cct7 A G 6: 85,459,182 (GRCm38) N25S probably damaging Het
Cep19 G C 16: 32,103,942 (GRCm38) G9R probably damaging Het
Ces5a A T 8: 93,523,057 (GRCm38) probably null Het
Chd1l T G 3: 97,582,826 (GRCm38) E471A probably damaging Het
Chd6 A G 2: 161,013,127 (GRCm38) I787T probably damaging Het
Cntnap5c A C 17: 58,395,266 (GRCm38) T1194P probably benign Het
Col6a3 T A 1: 90,816,002 (GRCm38) M208L probably benign Het
Coro7 A T 16: 4,628,674 (GRCm38) probably null Het
Csrnp2 T C 15: 100,481,958 (GRCm38) K484R probably benign Het
Cyp2c39 T A 19: 39,513,195 (GRCm38) V64E probably damaging Het
Ddr2 T C 1: 169,998,132 (GRCm38) K300E probably benign Het
Ddx56 T C 11: 6,263,980 (GRCm38) E393G probably damaging Het
Diaph1 A C 18: 37,853,679 (GRCm38) Y1084* probably null Het
Disp1 A T 1: 183,086,478 (GRCm38) F1459L probably benign Het
Dnajc8 G A 4: 132,544,113 (GRCm38) A80T probably damaging Het
Elfn1 T A 5: 139,971,685 (GRCm38) M148K probably benign Het
Emcn T A 3: 137,419,002 (GRCm38) I154N probably damaging Het
Enah T A 1: 181,905,899 (GRCm38) probably null Het
Enah C G 1: 181,905,898 (GRCm38) probably null Het
Epha2 T A 4: 141,308,757 (GRCm38) M168K probably benign Het
Ercc6 T A 14: 32,562,608 (GRCm38) I776N probably damaging Het
Fan1 T A 7: 64,372,486 (GRCm38) N340Y probably damaging Het
Fat4 G T 3: 38,996,204 (GRCm38) probably null Het
G3bp1 A G 11: 55,497,960 (GRCm38) R333G possibly damaging Het
Gm3604 A G 13: 62,369,390 (GRCm38) F385L probably benign Het
Gm5800 T C 14: 51,713,700 (GRCm38) I147M possibly damaging Het
Hipk1 A G 3: 103,778,245 (GRCm38) F18S unknown Het
Ighv3-8 A T 12: 114,322,330 (GRCm38) C131S probably benign Het
Il23r T G 6: 67,423,493 (GRCm38) T618P probably damaging Het
Il31ra G A 13: 112,527,529 (GRCm38) T538I possibly damaging Het
Kcns2 A G 15: 34,839,913 (GRCm38) D474G unknown Het
Klc4 T C 17: 46,636,229 (GRCm38) T407A possibly damaging Het
Klra5 C T 6: 129,911,457 (GRCm38) S2N probably benign Het
Krt10 T C 11: 99,388,851 (GRCm38) Y161C probably damaging Het
Kxd1 A T 8: 70,523,278 (GRCm38) M1K probably null Het
Lgals1 A C 15: 78,928,040 (GRCm38) D27A possibly damaging Het
Lgr5 T C 10: 115,466,346 (GRCm38) S308G probably benign Het
Lrp1 G A 10: 127,556,988 (GRCm38) S2736L probably benign Het
Lrpap1 G T 5: 35,102,536 (GRCm38) H73N probably benign Het
Mcpt1 C A 14: 56,019,065 (GRCm38) T86K probably damaging Het
Megf6 A T 4: 154,254,587 (GRCm38) D527V probably damaging Het
Mical3 A T 6: 120,959,390 (GRCm38) S1392T probably benign Het
Mmp2 A T 8: 92,839,382 (GRCm38) D437V probably damaging Het
Mob4 T A 1: 55,152,722 (GRCm38) Y166* probably null Het
Mrap2 G A 9: 87,182,474 (GRCm38) M89I possibly damaging Het
Mug1 G A 6: 121,881,787 (GRCm38) A1155T probably damaging Het
Myh2 G T 11: 67,193,218 (GRCm38) A1556S probably benign Het
Nfatc3 A G 8: 106,119,322 (GRCm38) D1028G probably benign Het
Ngef T G 1: 87,503,263 (GRCm38) probably null Het
Nlrp1a A T 11: 71,092,513 (GRCm38) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm38) R819C probably damaging Het
Nsd2 A T 5: 33,879,110 (GRCm38) D646V probably damaging Het
Nsun7 A G 5: 66,277,072 (GRCm38) H252R probably damaging Het
Olfr267 A T 4: 58,785,647 (GRCm38) I25N possibly damaging Het
Olfr447 T A 6: 42,911,857 (GRCm38) C111* probably null Het
Olfr642 C T 7: 104,049,740 (GRCm38) V205I probably benign Het
Olfr951 A T 9: 39,393,860 (GRCm38) Q20L probably benign Het
Olfr951 G T 9: 39,393,861 (GRCm38) Q20H probably benign Het
Pcdhga2 A T 18: 37,670,585 (GRCm38) D494V probably damaging Het
Pcsk2 A G 2: 143,813,747 (GRCm38) E617G probably damaging Het
Pdc T C 1: 150,333,180 (GRCm38) I138T probably damaging Het
Phc2 T A 4: 128,748,134 (GRCm38) S750T probably damaging Het
Pkd2l1 T A 19: 44,191,508 (GRCm38) N88Y possibly damaging Het
Plcl1 C T 1: 55,406,598 (GRCm38) R71* probably null Het
Prag1 C A 8: 36,103,894 (GRCm38) L544M probably damaging Het
Prkg2 A G 5: 98,966,510 (GRCm38) probably null Het
Psd2 G A 18: 35,979,711 (GRCm38) S153N probably damaging Het
Rab11fip1 A T 8: 27,152,972 (GRCm38) S600T probably damaging Het
Rbms1 T G 2: 60,762,304 (GRCm38) T222P probably benign Het
Slfn8 A T 11: 83,013,417 (GRCm38) Y382* probably null Het
Socs4 T A 14: 47,289,738 (GRCm38) C43* probably null Het
Sorl1 T A 9: 42,033,626 (GRCm38) T868S probably damaging Het
St6gal1 A G 16: 23,356,213 (GRCm38) Y267C probably damaging Het
Syne1 A G 10: 5,126,682 (GRCm38) V6879A probably benign Het
Syne2 C A 12: 75,854,132 (GRCm38) H22N possibly damaging Het
Tmeff2 T A 1: 50,928,021 (GRCm38) L25Q probably damaging Het
Tmprss11g T A 5: 86,487,436 (GRCm38) H393L probably benign Het
Tmprss11g G T 5: 86,487,426 (GRCm38) D396E probably benign Het
Vmn2r23 A G 6: 123,704,553 (GRCm38) E140G probably damaging Het
Wapl T C 14: 34,677,363 (GRCm38) S130P probably benign Het
Zeb2 T A 2: 44,994,529 (GRCm38) K982M probably damaging Het
Zfhx3 C G 8: 108,956,821 (GRCm38) H3631D unknown Het
Zfp719 T C 7: 43,590,706 (GRCm38) S573P probably damaging Het
Zfp979 A T 4: 147,613,542 (GRCm38) C237S possibly damaging 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
R0244:Ep300 UTSW 15 81,640,128 (GRCm38) missense unknown
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
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'- GGTCAGCCTTTAAACATGGC -3'
(R):5'- ACTCATTGCTCCCATGGGTG -3'

Sequencing Primer
(F):5'- TGGCTCCACAACCAGGATTG -3'
(R):5'- ACCTGCCTGCAGAGGATTCATG -3'
Posted On 2018-11-28