Incidental Mutation 'R6925:Ep300'
ID 541123
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms p300, KAT3B
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 81470329-81536278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81534182 bp (GRCm39)
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
Acat1 A T 9: 53,503,329 (GRCm39) V170E probably benign Het
Atp2b2 T A 6: 113,737,681 (GRCm39) I902F probably damaging Het
Cacna1d A G 14: 29,773,594 (GRCm39) V1697A probably benign Het
Ccdc14 T A 16: 34,511,119 (GRCm39) F31Y probably benign Het
Ccdc17 T A 4: 116,455,407 (GRCm39) V250E probably damaging Het
Cct7 A G 6: 85,436,164 (GRCm39) N25S probably damaging Het
Cdcp3 A G 7: 130,824,436 (GRCm39) Q177R possibly damaging Het
Cep19 G C 16: 31,922,760 (GRCm39) G9R probably damaging Het
Ces5a A T 8: 94,249,685 (GRCm39) probably null Het
Chd1l T G 3: 97,490,142 (GRCm39) E471A probably damaging Het
Chd6 A G 2: 160,855,047 (GRCm39) I787T probably damaging Het
Cntnap5c A C 17: 58,702,261 (GRCm39) T1194P probably benign Het
Col6a3 T A 1: 90,743,724 (GRCm39) M208L probably benign Het
Coro7 A T 16: 4,446,538 (GRCm39) probably null Het
Csrnp2 T C 15: 100,379,839 (GRCm39) K484R probably benign Het
Cyp2c39 T A 19: 39,501,639 (GRCm39) V64E probably damaging Het
Ddr2 T C 1: 169,825,701 (GRCm39) K300E probably benign Het
Ddx56 T C 11: 6,213,980 (GRCm39) E393G probably damaging Het
Diaph1 A C 18: 37,986,732 (GRCm39) Y1084* probably null Het
Disp1 A T 1: 182,868,042 (GRCm39) F1459L probably benign Het
Dnajc8 G A 4: 132,271,424 (GRCm39) A80T probably damaging Het
Elfn1 T A 5: 139,957,440 (GRCm39) M148K probably benign Het
Emcn T A 3: 137,124,763 (GRCm39) I154N probably damaging Het
Enah T A 1: 181,733,464 (GRCm39) probably null Het
Enah C G 1: 181,733,463 (GRCm39) probably null Het
Epha2 T A 4: 141,036,068 (GRCm39) M168K probably benign Het
Ercc6 T A 14: 32,284,565 (GRCm39) I776N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat4 G T 3: 39,050,353 (GRCm39) probably null Het
G3bp1 A G 11: 55,388,786 (GRCm39) R333G possibly damaging Het
Gm3604 A G 13: 62,517,204 (GRCm39) F385L probably benign Het
Gm5800 T C 14: 51,951,157 (GRCm39) I147M possibly damaging Het
Hipk1 A G 3: 103,685,561 (GRCm39) F18S unknown Het
Ighv3-8 A T 12: 114,285,950 (GRCm39) C131S probably benign Het
Il23r T G 6: 67,400,477 (GRCm39) T618P probably damaging Het
Il31ra G A 13: 112,664,063 (GRCm39) T538I possibly damaging Het
Kcns2 A G 15: 34,840,059 (GRCm39) D474G unknown Het
Klc4 T C 17: 46,947,155 (GRCm39) T407A possibly damaging Het
Klra5 C T 6: 129,888,420 (GRCm39) S2N probably benign Het
Krt10 T C 11: 99,279,677 (GRCm39) Y161C probably damaging Het
Kxd1 A T 8: 70,975,928 (GRCm39) M1K probably null Het
Lgals1 A C 15: 78,812,240 (GRCm39) D27A possibly damaging Het
Lgr5 T C 10: 115,302,251 (GRCm39) S308G probably benign Het
Lrp1 G A 10: 127,392,857 (GRCm39) S2736L probably benign Het
Lrpap1 G T 5: 35,259,880 (GRCm39) H73N probably benign Het
Mcpt1 C A 14: 56,256,522 (GRCm39) T86K probably damaging Het
Megf6 A T 4: 154,339,044 (GRCm39) D527V probably damaging Het
Mical3 A T 6: 120,936,351 (GRCm39) S1392T probably benign Het
Mmp2 A T 8: 93,566,010 (GRCm39) D437V probably damaging Het
Mob4 T A 1: 55,191,881 (GRCm39) Y166* probably null Het
Mrap2 G A 9: 87,064,527 (GRCm39) M89I possibly damaging Het
Mug1 G A 6: 121,858,746 (GRCm39) A1155T probably damaging Het
Myh2 G T 11: 67,084,044 (GRCm39) A1556S probably benign Het
Nfatc3 A G 8: 106,845,954 (GRCm39) D1028G probably benign Het
Ngef T G 1: 87,430,985 (GRCm39) probably null Het
Nlrp1a A T 11: 70,983,339 (GRCm39) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm39) R819C probably damaging Het
Nsd2 A T 5: 34,036,454 (GRCm39) D646V probably damaging Het
Nsun7 A G 5: 66,434,415 (GRCm39) H252R probably damaging Het
Or2a25 T A 6: 42,888,791 (GRCm39) C111* probably null Het
Or2k2 A T 4: 58,785,647 (GRCm39) I25N possibly damaging Het
Or51a10 C T 7: 103,698,947 (GRCm39) V205I probably benign Het
Or8g32 A T 9: 39,305,156 (GRCm39) Q20L probably benign Het
Or8g32 G T 9: 39,305,157 (GRCm39) Q20H probably benign Het
Pcdhga2 A T 18: 37,803,638 (GRCm39) D494V probably damaging Het
Pcsk2 A G 2: 143,655,667 (GRCm39) E617G probably damaging Het
Pdc T C 1: 150,208,931 (GRCm39) I138T probably damaging Het
Phc2 T A 4: 128,641,927 (GRCm39) S750T probably damaging Het
Pkd2l1 T A 19: 44,179,947 (GRCm39) N88Y possibly damaging Het
Plcl1 C T 1: 55,445,757 (GRCm39) R71* probably null Het
Prag1 C A 8: 36,571,048 (GRCm39) L544M probably damaging Het
Prkg2 A G 5: 99,114,369 (GRCm39) probably null Het
Psd2 G A 18: 36,112,764 (GRCm39) S153N probably damaging Het
Rab11fip1 A T 8: 27,643,000 (GRCm39) S600T probably damaging Het
Rbms1 T G 2: 60,592,648 (GRCm39) T222P probably benign Het
Slfn8 A T 11: 82,904,243 (GRCm39) Y382* probably null Het
Socs4 T A 14: 47,527,195 (GRCm39) C43* probably null Het
Sorl1 T A 9: 41,944,922 (GRCm39) T868S probably damaging Het
St6gal1 A G 16: 23,174,963 (GRCm39) Y267C probably damaging Het
Syne1 A G 10: 5,076,682 (GRCm39) V6879A probably benign Het
Syne2 C A 12: 75,900,906 (GRCm39) H22N possibly damaging Het
Tmeff2 T A 1: 50,967,180 (GRCm39) L25Q probably damaging Het
Tmprss11g G T 5: 86,635,285 (GRCm39) D396E probably benign Het
Tmprss11g T A 5: 86,635,295 (GRCm39) H393L probably benign Het
Vmn2r23 A G 6: 123,681,512 (GRCm39) E140G probably damaging Het
Wapl T C 14: 34,399,320 (GRCm39) S130P probably benign Het
Zeb2 T A 2: 44,884,541 (GRCm39) K982M probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp719 T C 7: 43,240,130 (GRCm39) S573P probably damaging Het
Zfp979 A T 4: 147,697,999 (GRCm39) C237S 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
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
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'- GGTCAGCCTTTAAACATGGC -3'
(R):5'- ACTCATTGCTCCCATGGGTG -3'

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