Incidental Mutation 'R8331:Ep300'
ID 644392
Institutional Source Beutler Lab
Gene Symbol Ep300
Ensembl Gene ENSMUSG00000055024
Gene Name E1A binding protein p300
Synonyms p300, KAT3B
MMRRC Submission 067860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8331 (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 81485411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 133 (S133P)
Ref Sequence ENSEMBL: ENSMUSP00000066789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068387]
AlphaFold B2RWS6
Predicted Effect unknown
Transcript: ENSMUST00000068387
AA Change: S133P
SMART Domains Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S133P

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
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,650,726 (GRCm39) A545S probably damaging Het
Alox12e A T 11: 70,211,923 (GRCm39) S195R probably benign Het
Angpt1 T C 15: 42,539,653 (GRCm39) R69G probably damaging Het
Apob A G 12: 8,051,882 (GRCm39) Q1149R probably benign Het
As3mt A T 19: 46,697,445 (GRCm39) E71V probably damaging Het
Atp9a A T 2: 168,517,217 (GRCm39) V372E probably benign Het
Bmal1 C A 7: 112,912,703 (GRCm39) N586K probably benign Het
Bmp2k T C 5: 97,192,928 (GRCm39) F259S probably damaging Het
Cacna1c T C 6: 118,607,290 (GRCm39) T1364A Het
Casp7 T A 19: 56,429,397 (GRCm39) I261N probably damaging Het
Ccdc154 A G 17: 25,386,927 (GRCm39) K319E probably benign Het
Cdc42bpg C A 19: 6,363,477 (GRCm39) L446I probably benign Het
Cdkl3 A T 11: 51,917,704 (GRCm39) T334S probably benign Het
Cep250 T A 2: 155,832,173 (GRCm39) L1366Q probably damaging Het
Chp2 G A 7: 121,821,133 (GRCm39) D165N probably damaging Het
Ckap5 T A 2: 91,406,545 (GRCm39) M782K probably damaging Het
Col20a1 T A 2: 180,638,559 (GRCm39) I433N possibly damaging Het
Col4a2 A T 8: 11,463,985 (GRCm39) R320* probably null Het
Ctsc A G 7: 87,946,328 (GRCm39) H119R possibly damaging Het
Cubn T C 2: 13,345,053 (GRCm39) H2121R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
D630045J12Rik T C 6: 38,125,409 (GRCm39) E1535G probably damaging Het
Dido1 A T 2: 180,302,242 (GRCm39) D1887E probably benign Het
Dnah6 T C 6: 73,001,983 (GRCm39) E3903G probably benign Het
Eif4a3l2 T C 6: 116,529,323 (GRCm39) I400T probably damaging Het
Ercc3 T C 18: 32,373,871 (GRCm39) S73P probably damaging Het
Fis1 T C 5: 136,991,987 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm17087 A G 17: 8,785,539 (GRCm39) W55R probably damaging Het
Gm3404 A T 5: 146,462,759 (GRCm39) S41C probably damaging Het
Greb1l T C 18: 10,458,706 (GRCm39) S96P possibly damaging Het
Irf3 C T 7: 44,650,383 (GRCm39) P300S probably damaging Het
Klk1b4 G A 7: 43,860,999 (GRCm39) C214Y probably damaging Het
Krtap5-3 T A 7: 141,755,563 (GRCm39) C133* probably null Het
Map3k12 T A 15: 102,410,766 (GRCm39) R448* probably null Het
Map4k2 C G 19: 6,402,853 (GRCm39) A738G probably damaging Het
Matn2 A T 15: 34,428,827 (GRCm39) K730N probably damaging Het
Mpp3 C T 11: 101,902,541 (GRCm39) probably null Het
N4bp2 T A 5: 65,964,943 (GRCm39) D997E probably damaging Het
Nav2 C T 7: 49,102,371 (GRCm39) P390S probably benign Het
Nme8 A G 13: 19,843,036 (GRCm39) S380P probably damaging Het
Nup210 C T 6: 91,030,648 (GRCm39) D878N possibly damaging Het
Odad3 C T 9: 21,903,007 (GRCm39) R441H probably damaging Het
Or4k49 A G 2: 111,494,727 (GRCm39) D52G possibly damaging Het
Or8c18 A G 9: 38,203,381 (GRCm39) I47V possibly damaging Het
Osbpl9 C A 4: 108,923,378 (GRCm39) W427L probably damaging Het
Pcdhb12 T C 18: 37,570,342 (GRCm39) V496A probably damaging Het
Pdlim1 G A 19: 40,218,995 (GRCm39) T212I possibly damaging Het
Phc2 C T 4: 128,605,987 (GRCm39) Q270* probably null Het
Pi4kb G A 3: 94,903,995 (GRCm39) R527Q probably null Het
Platr25 G T 13: 62,848,717 (GRCm39) H48Q probably benign Het
Polr1a C T 6: 71,953,163 (GRCm39) T1577M probably damaging Het
Ptprf C T 4: 118,083,263 (GRCm39) V915M probably benign Het
Ptprh A G 7: 4,552,480 (GRCm39) L928S probably damaging Het
Qrsl1 T C 10: 43,752,521 (GRCm39) N434S probably damaging Het
Slc44a4 T A 17: 35,140,545 (GRCm39) L246H probably damaging Het
Steap3 A T 1: 120,169,218 (GRCm39) C360S possibly damaging Het
Stk10 A G 11: 32,538,928 (GRCm39) T256A Het
Tatdn3 A T 1: 190,778,408 (GRCm39) L261Q probably damaging Het
Thnsl1 T A 2: 21,216,985 (GRCm39) F246L probably benign Het
Thsd7a A G 6: 12,471,157 (GRCm39) V487A Het
Tmem41a A C 16: 21,766,116 (GRCm39) probably null Het
Togaram2 G A 17: 72,036,221 (GRCm39) V924M probably damaging Het
Trabd T C 15: 88,969,131 (GRCm39) F185S probably damaging Het
Traf1 T C 2: 34,838,370 (GRCm39) D156G probably damaging Het
Ttn T C 2: 76,710,482 (GRCm39) E8513G unknown Het
Txlna C A 4: 129,533,279 (GRCm39) S83I probably damaging Het
Utrn T G 10: 12,490,363 (GRCm39) T6P probably benign Het
Vmn2r26 T A 6: 124,038,887 (GRCm39) S821T probably benign Het
Wdhd1 A T 14: 47,509,702 (GRCm39) probably null Het
Wnk1 T C 6: 119,930,794 (GRCm39) I917V probably benign Het
Wscd2 A G 5: 113,688,996 (GRCm39) M1V probably null Het
Xkr6 A G 14: 64,056,392 (GRCm39) H357R unknown Het
Zfhx2 G T 14: 55,309,444 (GRCm39) T885K probably benign Het
Zfp583 C T 7: 6,320,554 (GRCm39) E153K probably benign Het
Zmynd11 A G 13: 9,745,190 (GRCm39) M243T 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
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'- GTGGCGATATCAGTCAGCTTC -3'
(R):5'- TGATTGGGCATTATCCCTTGTC -3'

Sequencing Primer
(F):5'- AGCTTCAGACAAGTCTTGGC -3'
(R):5'- GTCCATTGCCTGCAGCCAAC -3'
Posted On 2020-09-02