Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Ep300'

603838

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 81586571 bp (GRCm38)

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,657	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 130,010,084	S668P	probably damaging	Het
Ahdc1	T	G	4: 133,064,277	L943R	possibly damaging	Het
Ank2	T	C	3: 126,945,476	K2253R	unknown	Het
Arhgap23	T	C	11: 97,463,561	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,989,989	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 109,033,424		probably benign	Het
Btbd19	A	T	4: 117,122,275	C116S	probably damaging	Het
Cbr1	C	T	16: 93,610,179	A261V	probably benign	Het
Ccdc137	A	G	11: 120,458,196	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Celsr3	C	T	9: 108,849,057	R3162C	probably benign	Het
Cep350	A	T	1: 155,915,478	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,669,538		probably benign	Het
Cmya5	G	T	13: 93,069,291	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,606,209		probably null	Het
Cyp2j9	T	A	4: 96,577,652	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263		probably null	Het
Dnah6	T	A	6: 73,118,057	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,373,261	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,455,195		probably benign	Het
Fam234a	A	G	17: 26,218,751	V90A	probably benign	Het
Fam71e1	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,500,535		probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017		probably benign	Het
Gal3st1	A	G	11: 3,998,153	Y120C	possibly damaging	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,427,149		probably null	Het
Gm6665	T	TC	18: 31,820,377		probably null	Het
Hdlbp	T	C	1: 93,440,734	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,466,694	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Klhl10	C	G	11: 100,442,070	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,221,838		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,586,382		probably benign	Het
Krt2	A	G	15: 101,817,968	I45T	unknown	Het
Ksr2	T	C	5: 117,555,218	S244P	probably benign	Het
Lama5	A	T	2: 180,196,178	M915K	probably benign	Het
Lrp1b	A	C	2: 41,770,846	H197Q		Het
Lrrc1	T	C	9: 77,452,631	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Mgam	T	A	6: 40,685,309	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,389,067	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Myc	A	T	15: 61,985,823		probably benign	Het
Nipbl	A	G	15: 8,358,934	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,385,224	I310N	probably benign	Het
Nwd2	C	A	5: 63,805,723	Y883*	probably null	Het
Oas1e	T	A	5: 120,794,318	T87S	possibly damaging	Het
Olfr586	A	T	7: 103,121,891	C294S	probably benign	Het
Olfr653	A	G	7: 104,580,290	M215V	probably benign	Het
Olfr885	G	A	9: 38,061,324	M1I	probably null	Het
Olfr964-ps1	GA	GATACA	9: 39,686,753		probably null	Het
Pappa	T	G	4: 65,205,045	S872R	possibly damaging	Het
Parp4	T	C	14: 56,647,349	L1295P	unknown	Het
Pcdh15	A	T	10: 74,185,410	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,883,896	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,697,946	C450W	probably damaging	Het
Pnmal1	C	CCATGATGCACCTGCTTCAACATCA	7: 16,961,451		probably benign	Het
Prl2c5	G	A	13: 13,185,912	G55S	probably benign	Het
Psme2b	A	T	11: 48,945,570	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,914,449		probably benign	Het
Rln3	T	C	8: 84,043,302	T73A	probably benign	Het
Rprd1a	T	A	18: 24,530,005	Q21L	probably damaging	Het
Sept3	A	T	15: 82,284,461	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,813,768	V65E	probably damaging	Het
Shank3	A	G	15: 89,500,390	N155S	probably benign	Het
Shox2	G	T	3: 66,973,813	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,879,155		probably null	Het
Slc39a10	A	T	1: 46,810,015	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,133,429	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,324,351		probably null	Het
Spta1	A	G	1: 174,213,444	D1270G	probably benign	Het
Spta1	T	A	1: 174,217,903	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,661,224	M1K	probably null	Het
Tax1bp1	T	C	6: 52,721,354	V17A	probably damaging	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,016,400		probably benign	Het
Tmem156	T	A	5: 65,091,547	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,418	M530L	probably benign	Het
Trpc2	A	G	7: 102,096,226	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,695,796		probably null	Het
Uhrf2	T	C	19: 30,086,391	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 58,008,720	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,307,543	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,406	W3829L	probably null	Het
Vwce	G	A	19: 10,653,085	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,626,997	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,780,282		probably null	Het
Zfp119b	A	T	17: 55,939,499	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,036,455		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,036,488		probably benign	Het
Zyx	T	A	6: 42,357,396	L518Q	probably damaging	Het

Other mutations in Ep300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ep300	APN	15	81641418	missense	unknown
IGL01128:Ep300	APN	15	81630006	unclassified	probably benign
IGL01151:Ep300	APN	15	81623472	intron	probably benign
IGL01414:Ep300	APN	15	81627266	unclassified	probably benign
IGL01564:Ep300	APN	15	81632464	unclassified	probably benign
IGL01875:Ep300	APN	15	81640023	missense	unknown
IGL01945:Ep300	APN	15	81616109	unclassified	probably benign
IGL02022:Ep300	APN	15	81611437	unclassified	probably benign
IGL02115:Ep300	APN	15	81648818	missense	unknown
IGL02129:Ep300	APN	15	81586636	missense	unknown
IGL02145:Ep300	APN	15	81601166	missense	unknown
IGL02149:Ep300	APN	15	81628420	unclassified	probably benign
IGL02165:Ep300	APN	15	81641391	missense	probably benign	0.39
IGL02226:Ep300	APN	15	81613412	missense	unknown
IGL02610:Ep300	APN	15	81601522	missense	unknown
IGL02731:Ep300	APN	15	81648414	missense	unknown
IGL03239:Ep300	APN	15	81641388	missense	unknown
BB001:Ep300	UTSW	15	81649502	missense	unknown
BB011:Ep300	UTSW	15	81649502	missense	unknown
R0077:Ep300	UTSW	15	81641313	missense	unknown
R0145:Ep300	UTSW	15	81616127	critical splice donor site	probably null
R0244:Ep300	UTSW	15	81640128	missense	unknown
R0390:Ep300	UTSW	15	81640116	missense	unknown
R0534:Ep300	UTSW	15	81600896	splice site	probably benign
R0671:Ep300	UTSW	15	81616134	unclassified	probably benign
R0840:Ep300	UTSW	15	81644933	missense	unknown
R1166:Ep300	UTSW	15	81630064	unclassified	probably benign
R1737:Ep300	UTSW	15	81626347	missense	probably damaging	0.99
R1893:Ep300	UTSW	15	81631646	unclassified	probably benign
R2136:Ep300	UTSW	15	81640447	missense	unknown
R3427:Ep300	UTSW	15	81601279	missense	unknown
R3757:Ep300	UTSW	15	81648589	missense	unknown
R3892:Ep300	UTSW	15	81619997	unclassified	probably benign
R4554:Ep300	UTSW	15	81601430	missense	unknown
R4575:Ep300	UTSW	15	81649009	missense	unknown
R4575:Ep300	UTSW	15	81611410	unclassified	probably benign
R4577:Ep300	UTSW	15	81611410	unclassified	probably benign
R4577:Ep300	UTSW	15	81649009	missense	unknown
R4578:Ep300	UTSW	15	81649009	missense	unknown
R4578:Ep300	UTSW	15	81611410	unclassified	probably benign
R5021:Ep300	UTSW	15	81640023	missense	unknown
R5366:Ep300	UTSW	15	81616100	missense	probably benign	0.24
R5372:Ep300	UTSW	15	81636830	missense	unknown
R5393:Ep300	UTSW	15	81631618	unclassified	probably benign
R5410:Ep300	UTSW	15	81648854	missense	unknown
R5571:Ep300	UTSW	15	81643217	intron	probably benign
R5701:Ep300	UTSW	15	81601495	missense	unknown
R5772:Ep300	UTSW	15	81639914	intron	probably benign
R5825:Ep300	UTSW	15	81611472	missense	probably benign	0.39
R5917:Ep300	UTSW	15	81628607	unclassified	probably benign
R5991:Ep300	UTSW	15	81648466	missense	unknown
R6019:Ep300	UTSW	15	81641382	missense	unknown
R6144:Ep300	UTSW	15	81601234	missense	unknown
R6291:Ep300	UTSW	15	81648507	missense	unknown
R6292:Ep300	UTSW	15	81616734	unclassified	probably benign
R6599:Ep300	UTSW	15	81586713	missense	unknown
R6804:Ep300	UTSW	15	81641311	nonsense	probably null
R6925:Ep300	UTSW	15	81649981	missense	probably benign	0.32
R7327:Ep300	UTSW	15	81627314	missense	unknown
R7378:Ep300	UTSW	15	81650545	missense	probably damaging	0.97
R7388:Ep300	UTSW	15	81648366	missense	unknown
R7419:Ep300	UTSW	15	81648514	missense	unknown
R7498:Ep300	UTSW	15	81639843	missense	unknown
R7584:Ep300	UTSW	15	81628426	missense	unknown
R7605:Ep300	UTSW	15	81621152	missense	unknown
R7619:Ep300	UTSW	15	81608198	missense	unknown
R7699:Ep300	UTSW	15	81586393	start gained	probably benign
R7763:Ep300	UTSW	15	81586583	start gained	probably benign
R7775:Ep300	UTSW	15	81586686	missense	unknown
R7778:Ep300	UTSW	15	81586686	missense	unknown
R7862:Ep300	UTSW	15	81650753	missense	probably damaging	1.00
R7924:Ep300	UTSW	15	81649502	missense	unknown
R8155:Ep300	UTSW	15	81621068	missense	unknown
R8259:Ep300	UTSW	15	81639017	missense	unknown
R8276:Ep300	UTSW	15	81650028	missense	possibly damaging	0.85
R8331:Ep300	UTSW	15	81601210	missense	unknown
R8554:Ep300	UTSW	15	81639027	missense	unknown
R9019:Ep300	UTSW	15	81648529	missense	unknown
R9128:Ep300	UTSW	15	81649745	missense	unknown
R9379:Ep300	UTSW	15	81648559	missense	unknown
R9380:Ep300	UTSW	15	81616044	missense	unknown
R9484:Ep300	UTSW	15	81636825	missense	unknown
R9659:Ep300	UTSW	15	81621072	missense	unknown
R9690:Ep300	UTSW	15	81636195	missense	unknown
R9721:Ep300	UTSW	15	81608315	missense	unknown
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAGTGTTGCTGTACCCTC -3'
(R):5'- CCCTGGAATGAAGGTGCAAC -3'

Sequencing Primer
(F):5'- CCTCCCGGCCTGGTTTAG -3'
(R):5'- CTATGGAAGGCCGGGAGTC -3'

Posted On

2019-12-04