Incidental Mutation 'R9380:Ep300'
ID 709975
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms p300, KAT3B
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9380 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81470329-81536278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81500245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 515 (M515T)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect unknown
Transcript: ENSMUST00000068387
AA Change: M515T
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M515T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T G 1: 78,659,602 (GRCm39) C85G possibly damaging Het
Alox12e A T 11: 70,206,994 (GRCm39) probably null Het
Aoc1l2 T C 6: 48,910,064 (GRCm39) I667T probably damaging Het
Asb10 A C 5: 24,739,103 (GRCm39) probably null Het
B3galt9 G A 2: 34,729,029 (GRCm39) C276Y probably damaging Het
Bcl2a1d G A 9: 88,613,935 (GRCm39) probably benign Het
Camsap3 A T 8: 3,653,999 (GRCm39) K556N probably benign Het
Cd300lf T A 11: 115,015,153 (GRCm39) T146S probably benign Het
Chuk C A 19: 44,062,958 (GRCm39) A744S unknown Het
Clint1 A T 11: 45,742,988 (GRCm39) M4L probably benign Het
Cnot4 T C 6: 35,029,865 (GRCm39) I344M possibly damaging Het
Cpne1 T C 2: 155,920,721 (GRCm39) D135G probably benign Het
Csgalnact2 C A 6: 118,105,840 (GRCm39) L159F probably damaging Het
Dnai2 T C 11: 114,635,989 (GRCm39) F325L probably benign Het
Dnal4 G A 15: 79,647,790 (GRCm39) S25L possibly damaging Het
Ewsr1 T C 11: 5,043,730 (GRCm39) Y18C possibly damaging Het
Fam25a T C 14: 34,073,957 (GRCm39) T72A possibly damaging Het
Flii T C 11: 60,606,297 (GRCm39) Y1131C probably benign Het
Foxj1 C T 11: 116,222,547 (GRCm39) A419T possibly damaging Het
Fsd1l A G 4: 53,693,991 (GRCm39) T323A possibly damaging Het
Furin T C 7: 80,041,506 (GRCm39) I551V probably benign Het
Gbp11 A G 5: 105,475,202 (GRCm39) V382A probably benign Het
Gfod1 A C 13: 43,354,320 (GRCm39) D218E probably damaging Het
Glp2r A T 11: 67,637,572 (GRCm39) I153N possibly damaging Het
Gm11214 G T 4: 63,580,850 (GRCm39) P100T possibly damaging Het
Gne A T 4: 44,066,807 (GRCm39) F69I probably benign Het
Hsd3b2 T C 3: 98,619,453 (GRCm39) K164R probably damaging Het
Hspa1b T C 17: 35,177,170 (GRCm39) R272G probably damaging Het
Hydin C A 8: 111,290,504 (GRCm39) T3321N probably benign Het
Impg1 A T 9: 80,289,077 (GRCm39) S327T probably benign Het
Izumo2 T C 7: 44,364,812 (GRCm39) V159A probably benign Het
Kat6b T C 14: 21,678,926 (GRCm39) S430P probably damaging Het
Kcnj9 T A 1: 172,153,447 (GRCm39) T226S probably benign Het
Kl T A 5: 150,912,342 (GRCm39) M697K possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,928,331 (GRCm39) P1266S probably damaging Het
Med13 A T 11: 86,177,598 (GRCm39) N1499K probably benign Het
Mybbp1a A G 11: 72,333,668 (GRCm39) I182V probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nin A G 12: 70,074,805 (GRCm39) L1859P Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Or2y10 A G 11: 49,454,904 (GRCm39) D52G possibly damaging Het
Or4a67 A T 2: 88,598,530 (GRCm39) I43N probably damaging Het
Or4k1 C A 14: 50,377,770 (GRCm39) G109W probably damaging Het
Or8b50 A G 9: 38,518,415 (GRCm39) Y218C probably damaging Het
Osbpl8 T A 10: 111,108,980 (GRCm39) S421T probably damaging Het
Paqr7 A G 4: 134,234,350 (GRCm39) N69S probably damaging Het
Pcare A T 17: 72,056,351 (GRCm39) S1109T possibly damaging Het
Pdgfrb G A 18: 61,197,920 (GRCm39) G231D probably damaging Het
Pip5k1b A G 19: 24,356,417 (GRCm39) Y174H probably damaging Het
Pkd1 T A 17: 24,769,262 (GRCm39) L9Q unknown Het
Psmg4 A T 13: 34,350,080 (GRCm39) T71S probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Qser1 G A 2: 104,619,691 (GRCm39) Q284* probably null Het
Rcc2 G T 4: 140,429,702 (GRCm39) A79S probably benign Het
Rgl3 G T 9: 21,888,123 (GRCm39) Q464K probably damaging Het
Rhov C A 2: 119,100,604 (GRCm39) R211L probably benign Het
Rp1l1 A G 14: 64,266,475 (GRCm39) D687G probably benign Het
Selenbp2 A G 3: 94,609,654 (GRCm39) I291V probably benign Het
Sh3glb2 A T 2: 30,238,625 (GRCm39) V189E probably damaging Het
Slc46a2 A G 4: 59,913,867 (GRCm39) I352T probably damaging Het
Sucla2 T A 14: 73,828,312 (GRCm39) N306K probably benign Het
Suco A G 1: 161,646,074 (GRCm39) V1209A possibly damaging Het
Tacc2 T A 7: 130,226,771 (GRCm39) L1152Q possibly damaging Het
Tanc1 A T 2: 59,665,796 (GRCm39) K1185M probably damaging Het
Tas2r114 A G 6: 131,666,381 (GRCm39) F216L probably benign Het
Tead1 A T 7: 112,441,105 (GRCm39) H78L possibly damaging Het
Tex12 T C 9: 50,469,586 (GRCm39) I64V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trank1 A G 9: 111,221,738 (GRCm39) E2825G probably benign Het
Trappc13 T A 13: 104,280,707 (GRCm39) Y399F probably damaging Het
Trim21 T C 7: 102,212,992 (GRCm39) D102G probably damaging Het
Trim27 G T 13: 21,364,680 (GRCm39) V6L probably benign Het
Trim55 A G 3: 19,728,559 (GRCm39) T457A probably benign Het
Trrap A G 5: 144,769,981 (GRCm39) E2716G probably benign Het
Usp10 T G 8: 120,682,943 (GRCm39) L712R probably damaging Het
Vldlr T A 19: 27,216,192 (GRCm39) C338S possibly damaging Het
Zfp946 A G 17: 22,673,680 (GRCm39) I145V 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
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
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'- GACAAAGTCTGTGTTTTCCTATTTCAC -3'
(R):5'- ACATGGACATCCTGCTCATTCC -3'

Sequencing Primer
(F):5'- CCAATGAGGTCTGGAGATCATTCC -3'
(R):5'- ATTCCTTTCCTTAAAGCTACCTGC -3'
Posted On 2022-04-18