Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Ep300'

342419

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

041798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4575 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81649009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1756 (S1756P)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: S1756P

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S1756P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206431

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 131,362,596	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,871,268		noncoding transcript	Het
Adgrf3	T	A	5: 30,202,257	M224L	probably benign	Het
Ago3	T	C	4: 126,346,682	H129R	probably benign	Het
Asb10	C	T	5: 24,540,054	R99H	probably damaging	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
Ccdc96	T	C	5: 36,486,075	V475A	possibly damaging	Het
Clec4b2	T	A	6: 123,173,680	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,734,361	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,371,932	A167E	possibly damaging	Het
Doxl2	C	T	6: 48,977,568	Q547*	probably null	Het
Dpysl3	T	C	18: 43,342,247	K382R	probably damaging	Het
Dscam	A	G	16: 96,825,623	I362T	possibly damaging	Het
Edil3	T	C	13: 89,319,731	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Fgd4	T	C	16: 16,437,032	Q507R	probably damaging	Het
Frem3	A	G	8: 80,616,075	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Gabrr1	C	T	4: 33,158,175	T266I	possibly damaging	Het
Gm11563	G	A	11: 99,658,449	P160S	unknown	Het
Gm12166	T	C	11: 46,051,852	D148G	probably damaging	Het
Gm12790	T	C	4: 101,968,127	D30G	probably benign	Het
Haus8	A	G	8: 71,263,092	V34A	probably damaging	Het
Hgf	T	C	5: 16,572,601	Y199H	probably benign	Het
Ide	G	A	19: 37,272,205	P916L	unknown	Het
Igsf10	G	T	3: 59,330,100	H887N	probably benign	Het
Iigp1	A	T	18: 60,390,146	H112L	probably benign	Het
Impg2	A	G	16: 56,261,732	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,350,429	D91A	probably damaging	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Kprp	T	C	3: 92,823,964	N593S	probably benign	Het
Krt2	T	G	15: 101,814,486	D359A	probably damaging	Het
Krt35	A	T	11: 100,095,899	N96K	probably benign	Het
Lnx1	T	C	5: 74,685,543	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nfib	A	T	4: 82,296,811	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299	I473V	probably benign	Het
Obscn	T	C	11: 59,122,772	D1108G	probably damaging	Het
Olfr553	A	T	7: 102,614,769	C73*	probably null	Het
Olfr834	C	A	9: 18,988,705	S239*	probably null	Het
Otop1	T	C	5: 38,299,721	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,366,912	K82N	probably damaging	Het
Prr14l	T	C	5: 32,793,644	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,243,786	V78I	possibly damaging	Het
Rfc4	T	A	16: 23,114,429		probably benign	Het
Rpn2	C	A	2: 157,295,324	A209E	probably damaging	Het
Sf1	T	C	19: 6,375,913		probably benign	Het
Skint5	T	A	4: 113,667,193	S864C	unknown	Het
Slc2a10	C	G	2: 165,516,321	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,235,066	I1673N	probably benign	Het
Sri	G	T	5: 8,063,693	G152W	probably damaging	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Svop	C	T	5: 114,065,682	V13M	probably damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Uhrf1bp1	T	C	17: 27,887,503	V1001A	probably benign	Het
Vmn2r125	T	A	4: 156,349,977	D19E	probably null	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly 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	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
RF020:Ep300	UTSW	15	81586571	start gained	probably benign
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGATTATGACCTGTGCATCAC -3'
(R):5'- AGCATCTGAGCCTGTTGGAG -3'

Sequencing Primer
(F):5'- GACCTGTGCATCACTTGTTATAACAC -3'
(R):5'- AGCCTGTTGGAGCCGGTG -3'

Posted On

2015-09-24