Incidental Mutation 'R5372:Ep300'
ID 428821
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms KAT3B, p300
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81585351-81652077 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81636830 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1264 (I1264V)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect unknown
Transcript: ENSMUST00000068387
AA Change: I1264V
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: I1264V

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: ENSMUST00000187776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205816
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,055,339 (GRCm38) D108E probably damaging Het
Abhd12b A G 12: 70,181,026 (GRCm38) D194G probably damaging Het
Adck5 A G 15: 76,594,507 (GRCm38) probably benign Het
Adgrb3 C T 1: 25,128,859 (GRCm38) V792I probably benign Het
Anxa8 G A 14: 34,093,911 (GRCm38) V174M probably damaging Het
Apol9b A T 15: 77,735,720 (GRCm38) R239W probably benign Het
Arhgap26 A G 18: 38,642,456 (GRCm38) noncoding transcript Het
Atrnl1 A G 19: 57,755,536 (GRCm38) Y1190C probably benign Het
Brinp3 T G 1: 146,831,726 (GRCm38) L376R probably damaging Het
Btbd2 A T 10: 80,648,641 (GRCm38) M132K probably damaging Het
C130073F10Rik A T 4: 101,890,487 (GRCm38) I115K probably damaging Het
C1ra T A 6: 124,521,625 (GRCm38) Y426N probably damaging Het
Cacna1b A T 2: 24,733,959 (GRCm38) V203E probably damaging Het
Catsperg1 T A 7: 29,210,712 (GRCm38) D68V probably benign Het
Ccdc158 A C 5: 92,632,560 (GRCm38) S885A possibly damaging Het
Cdc42bpa T C 1: 180,064,979 (GRCm38) V236A probably damaging Het
Cdca7 A T 2: 72,482,449 (GRCm38) E176D probably damaging Het
Cdk17 A G 10: 93,226,039 (GRCm38) D211G probably benign Het
Clca3a2 A C 3: 144,797,525 (GRCm38) M888R probably benign Het
Clcn7 T A 17: 25,157,179 (GRCm38) M568K possibly damaging Het
Clip1 G T 5: 123,630,240 (GRCm38) N811K probably benign Het
Col12a1 T A 9: 79,678,366 (GRCm38) Y1243F probably damaging Het
Dctn1 T A 6: 83,190,210 (GRCm38) D315E probably damaging Het
Dgcr2 T C 16: 17,872,644 (GRCm38) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm38) probably benign Het
Fam167b A T 4: 129,578,299 (GRCm38) L26Q possibly damaging Het
Fam178b T A 1: 36,564,848 (GRCm38) I457F possibly damaging Het
Fgd4 A T 16: 16,484,291 (GRCm38) N133K probably benign Het
Fndc1 C G 17: 7,765,210 (GRCm38) V1295L unknown Het
Gad2 A T 2: 22,690,243 (GRCm38) D552V possibly damaging Het
Hars2 T C 18: 36,790,481 (GRCm38) Y361H possibly damaging Het
Heca T A 10: 17,915,139 (GRCm38) S390C probably damaging Het
Hephl1 G T 9: 15,097,899 (GRCm38) Y132* probably null Het
Hormad1 T A 3: 95,576,424 (GRCm38) D182E probably damaging Het
Ifna15 G A 4: 88,558,101 (GRCm38) P49S probably damaging Het
Khsrp T C 17: 57,024,292 (GRCm38) T429A possibly damaging Het
Magi2 A G 5: 20,702,110 (GRCm38) Q1094R possibly damaging Het
Map3k11 T A 19: 5,690,962 (GRCm38) I239K probably damaging Het
Mtus2 A G 5: 148,313,412 (GRCm38) T1319A probably damaging Het
Nup54 A G 5: 92,417,857 (GRCm38) I406T probably damaging Het
Nxpe2 T C 9: 48,339,519 (GRCm38) T43A possibly damaging Het
Nynrin A G 14: 55,868,491 (GRCm38) E889G probably benign Het
Olfr1313 A G 2: 112,072,109 (GRCm38) I158T probably benign Het
Olfr160 T C 9: 37,711,938 (GRCm38) M114V possibly damaging Het
Olfr301 T A 7: 86,412,968 (GRCm38) I202N possibly damaging Het
Olfr663 A G 7: 104,703,795 (GRCm38) D76G probably benign Het
Opa1 A C 16: 29,586,119 (GRCm38) H45P probably benign Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Papola A G 12: 105,827,050 (GRCm38) K543R probably benign Het
Plcxd3 G A 15: 4,574,788 (GRCm38) V293I probably benign Het
Polr2g T C 19: 8,797,303 (GRCm38) Y72C probably damaging Het
Ppp1r21 A G 17: 88,550,675 (GRCm38) K205E probably benign Het
Ptpre A G 7: 135,653,940 (GRCm38) K53E possibly damaging Het
Rasal3 T C 17: 32,391,344 (GRCm38) K990E probably benign Het
Rgs3 A T 4: 62,652,697 (GRCm38) probably benign Het
Rhd A G 4: 134,884,632 (GRCm38) T254A possibly damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scube3 G T 17: 28,152,482 (GRCm38) C57F probably damaging Het
Sh2d5 A G 4: 138,254,699 (GRCm38) D57G possibly damaging Het
Slc12a6 T A 2: 112,347,360 (GRCm38) L608* probably null Het
Slk A T 19: 47,625,393 (GRCm38) N896I probably damaging Het
Smc6 A G 12: 11,282,430 (GRCm38) D211G probably damaging Het
Sox6 A T 7: 115,550,151 (GRCm38) Y371* probably null Het
Srcap G A 7: 127,557,613 (GRCm38) probably null Het
Stard5 T A 7: 83,633,220 (GRCm38) D80E probably damaging Het
Supv3l1 C T 10: 62,432,357 (GRCm38) V570M probably damaging Het
Syt7 G T 19: 10,426,621 (GRCm38) V180L probably damaging Het
Tacc2 T A 7: 130,623,260 (GRCm38) H558Q probably benign Het
Tas2r120 T A 6: 132,657,483 (GRCm38) M176K possibly damaging Het
Tmem135 A T 7: 89,165,174 (GRCm38) probably null Het
Trim35 T C 14: 66,297,266 (GRCm38) V66A possibly damaging Het
Tspan12 A G 6: 21,772,699 (GRCm38) S284P probably benign Het
Ttll3 A T 6: 113,401,421 (GRCm38) K257* probably null Het
Uggt1 C A 1: 36,244,060 (GRCm38) probably benign Het
Vmn2r7 T A 3: 64,716,324 (GRCm38) I283F probably damaging Het
Wdfy2 T G 14: 62,954,885 (GRCm38) H363Q probably damaging Het
Wdr4 T A 17: 31,510,580 (GRCm38) K95N probably damaging Het
Zfp141 T C 7: 42,477,196 (GRCm38) N91S possibly damaging Het
Zfp383 C T 7: 29,915,270 (GRCm38) R317* probably null 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
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
R6925:Ep300 UTSW 15 81,649,981 (GRCm38) missense probably benign 0.32
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'- TTAGCTCTTTGGGCATGACAG -3'
(R):5'- CTGACAGGCATATGTTGTACAAATG -3'

Sequencing Primer
(F):5'- CTCTTTGGGCATGACAGTTGTC -3'
(R):5'- GGCAATGTACACGTTTGATCCCAG -3'
Posted On 2016-09-06