Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Ep300'

598076

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

MMRRC Submission

045819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 81470784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068387]

AlphaFold

B2RWS6

Predicted Effect

probably benign
Transcript: ENSMUST00000068387

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.0%

Validation Efficiency

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,113,825 (GRCm39)	W899R	probably damaging	Het
Abca5	A	T	11: 110,163,323 (GRCm39)	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,504,350 (GRCm39)	D25V	probably damaging	Het
Akap10	G	C	11: 61,806,331 (GRCm39)	D132E	probably damaging	Het
Angptl2	G	T	2: 33,132,394 (GRCm39)	E334*	probably null	Het
Aprt	T	C	8: 123,301,674 (GRCm39)	R165G	probably benign	Het
Bmp1	A	G	14: 70,729,524 (GRCm39)	F549S	probably damaging	Het
Capzb	C	T	4: 139,007,864 (GRCm39)	T215I	probably benign	Het
Car14	C	T	3: 95,811,684 (GRCm39)	M1I	probably null	Het
Ccdc148	T	A	2: 58,713,648 (GRCm39)	Q501L	probably benign	Het
Ccdc32	G	A	2: 118,857,828 (GRCm39)	T12I	probably damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,811,283 (GRCm39)	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,148,356 (GRCm39)	S2670R	probably damaging	Het
Cdh8	T	A	8: 100,006,306 (GRCm39)	K94*	probably null	Het
Cdhr2	A	T	13: 54,865,505 (GRCm39)	Y193F	probably damaging	Het
Cdon	T	A	9: 35,365,711 (GRCm39)	Y153*	probably null	Het
Chd1	G	A	17: 15,953,303 (GRCm39)	G413R	probably damaging	Het
Cit	A	T	5: 116,125,060 (GRCm39)	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,941,299 (GRCm39)	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,644 (GRCm39)	D253E	probably damaging	Het
Cyp2c40	T	A	19: 39,795,612 (GRCm39)	N189I	possibly damaging	Het
Daam2	G	T	17: 49,797,050 (GRCm39)	A245E	probably benign	Het
Dennd5b	A	G	6: 148,970,156 (GRCm39)	F121S	probably damaging	Het
Dgkd	A	G	1: 87,854,671 (GRCm39)	T658A	probably benign	Het
Dmwd	T	A	7: 18,814,265 (GRCm39)	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,314,001 (GRCm39)	Y1939F	probably damaging	Het
Dock5	T	C	14: 68,058,776 (GRCm39)	T512A	probably damaging	Het
Dop1b	T	A	16: 93,552,402 (GRCm39)	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,437,279 (GRCm39)	H207R	probably damaging	Het
Egfr	T	C	11: 16,841,266 (GRCm39)	V719A	probably damaging	Het
Epha4	A	G	1: 77,366,668 (GRCm39)		probably null	Het
Erc2	T	G	14: 27,598,161 (GRCm39)		probably null	Het
Ergic1	A	T	17: 26,857,801 (GRCm39)	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,155,701 (GRCm39)	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478 (GRCm38)	T1841S	probably benign	Het
Foxc1	G	A	13: 31,992,011 (GRCm39)	S274N	probably benign	Het
Fto	C	T	8: 92,136,071 (GRCm39)	T115M	probably damaging	Het
Gm10228	C	G	16: 88,838,187 (GRCm39)	C39S	unknown	Het
Gm7334	T	C	17: 51,005,743 (GRCm39)	F10L	possibly damaging	Het
Hfm1	A	G	5: 107,029,727 (GRCm39)	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,312,937 (GRCm39)	S1726T	probably benign	Het
Htt	G	T	5: 35,009,534 (GRCm39)	C1505F	probably damaging	Het
Hydin	T	C	8: 111,232,475 (GRCm39)	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,470,445 (GRCm39)	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,196,181 (GRCm39)	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,116,827 (GRCm39)	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,887,563 (GRCm39)	S59P	probably benign	Het
Iglv1	A	G	16: 18,904,239 (GRCm39)		probably benign	Het
Ipo7	T	A	7: 109,652,006 (GRCm39)	D928E	possibly damaging	Het
Itgae	G	T	11: 73,014,095 (GRCm39)		probably null	Het
Kbtbd12	T	A	6: 88,595,179 (GRCm39)	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,350,074 (GRCm39)	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,444,121 (GRCm39)	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,367,142 (GRCm39)	Y10F	probably benign	Het
Lrp2	A	T	2: 69,333,732 (GRCm39)	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,747,799 (GRCm39)	D355E	probably benign	Het
Mri1	T	C	8: 84,977,657 (GRCm39)	H226R		Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Muc4	T	A	16: 32,574,739 (GRCm39)	L1063H	probably benign	Het
Mzf1	A	T	7: 12,778,018 (GRCm39)	I541N	probably damaging	Het
Nasp	T	A	4: 116,469,230 (GRCm39)	E116D	probably benign	Het
Nlrp10	T	A	7: 108,525,033 (GRCm39)	E149V	probably damaging	Het
Notch4	G	A	17: 34,801,392 (GRCm39)	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,767,481 (GRCm39)	I147L	unknown	Het
Ogdh	A	G	11: 6,288,558 (GRCm39)	M223V	probably benign	Het
Or2a56	T	C	6: 42,932,723 (GRCm39)	I97T	probably benign	Het
Or2y1e	G	T	11: 49,218,498 (GRCm39)	A87S	probably benign	Het
Or4n4	A	T	14: 50,518,945 (GRCm39)	I255N	probably damaging	Het
Or6c66b	G	T	10: 129,377,324 (GRCm39)	R306L	probably benign	Het
P3h3	T	C	6: 124,831,395 (GRCm39)	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,544,935 (GRCm39)	T4A	not run	Het
Pkd2l2	A	T	18: 34,566,340 (GRCm39)		probably null	Het
Plekhb1	C	T	7: 100,294,870 (GRCm39)	V168I	probably benign	Het
Plxna4	C	T	6: 32,200,915 (GRCm39)	R753H	probably damaging	Het
Pramel17	T	C	4: 101,694,338 (GRCm39)	I182V	possibly damaging	Het
Prex1	G	C	2: 166,555,629 (GRCm39)	P4A	unknown	Het
Ptgdr	A	G	14: 45,096,535 (GRCm39)	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,804,740 (GRCm39)	I519F	probably benign	Het
Rbpms	A	G	8: 34,279,481 (GRCm39)	I170T	probably benign	Het
Sec31b	T	A	19: 44,512,274 (GRCm39)		probably null	Het
Skint11	A	T	4: 114,084,905 (GRCm39)	Y138F	probably benign	Het
Slain2	A	G	5: 73,105,953 (GRCm39)	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,621,950 (GRCm39)	C503*	probably null	Het
Slfn3	A	T	11: 83,105,614 (GRCm39)	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,335,592 (GRCm39)	Y443H	probably damaging	Het
Sorl1	T	A	9: 41,955,205 (GRCm39)	E683D	probably damaging	Het
Sos1	T	A	17: 80,721,142 (GRCm39)	I893L	probably benign	Het
St8sia2	T	A	7: 73,593,069 (GRCm39)	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570 (GRCm39)	S212*	probably null	Het
Syne3	C	T	12: 104,963,754 (GRCm39)		probably benign	Het
Tenm4	T	A	7: 96,544,899 (GRCm39)	I2342N	probably benign	Het
Tescl	T	A	7: 24,032,688 (GRCm39)	E212D	probably benign	Het
Trip11	A	G	12: 101,811,114 (GRCm39)	S1879P	probably benign	Het
Ube2c	A	T	2: 164,613,211 (GRCm39)		probably null	Het
Umodl1	T	A	17: 31,205,430 (GRCm39)	I675N	probably benign	Het
Vipr2	T	C	12: 116,086,338 (GRCm39)	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,804,839 (GRCm39)	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,413,912 (GRCm39)	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,822,099 (GRCm39)	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 84,654,909 (GRCm39)	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,300,797 (GRCm39)	F600L	probably benign	Het
Vps13a	T	A	19: 16,723,364 (GRCm39)	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,652,458 (GRCm39)	D747A	possibly damaging	Het
Xdh	G	A	17: 74,241,829 (GRCm39)	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,880,401 (GRCm39)		probably null	Het
Zfp362	T	A	4: 128,680,824 (GRCm39)	H180L	probably benign	Het
Zfp560	A	T	9: 20,258,619 (GRCm39)	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,320,478 (GRCm39)	Q569L	probably benign	Het
Zfp93	T	A	7: 23,974,643 (GRCm39)	D209E	possibly damaging	Het
Zftraf1	A	T	15: 76,542,747 (GRCm39)	Y138N	probably damaging	Het

Other mutations in Ep300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGATCAGTGTTGCTGTACC -3'
(R):5'- CCCTGGAATGAAGGTGCAAC -3'

Sequencing Primer
(F):5'- GATCAGTGTTGCTGTACCCTCCTC -3'
(R):5'- AGACGAAGGGAACTATGGAAGGC -3'

Posted On

2019-11-26