Mutagenetix > Incidental Mutations

Incidental Mutation 'R0077:Ep300'

19507

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

038364-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81641313 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1446 (I1446T)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: I1446T

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: I1446T

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: ENSMUST00000205816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206431

Meta Mutation Damage Score

0.9465

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,771,685		probably benign	Het
Adgrl4	A	G	3: 151,517,781	I624V	probably damaging	Het
AI661453	A	G	17: 47,469,362		probably benign	Het
Alg12	C	T	15: 88,815,978	E60K	probably damaging	Het
Angel2	A	T	1: 190,933,087	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,140,167	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,321,612	D61E	probably damaging	Het
Bpi	T	A	2: 158,261,334	M83K	probably damaging	Het
Capn7	A	G	14: 31,368,115	I642V	probably benign	Het
Ccdc134	T	C	15: 82,131,737		probably benign	Het
Ccr3	C	T	9: 124,029,024	T132I	probably damaging	Het
Cfap65	C	A	1: 74,931,918	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,047,384	I218K	unknown	Het
Ddx23	A	G	15: 98,656,600		probably null	Het
Dmkn	A	G	7: 30,765,294	S231G	probably benign	Het
Fmnl1	T	C	11: 103,189,969	F318S	probably damaging	Het
Grik5	A	T	7: 25,023,380	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,214,083	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,868,831		probably benign	Het
Hspb7	A	G	4: 141,424,047	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,322,702	N884I	probably benign	Het
Krba1	T	C	6: 48,405,225		probably benign	Het
Krt18	G	T	15: 102,030,974	R294L	probably benign	Het
Lctl	T	A	9: 64,122,107	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375	S535F	possibly damaging	Het
Lrba	A	C	3: 86,542,688	N2105H	probably damaging	Het
Lrrc10	A	G	10: 117,045,514	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,243,872	V104E	probably damaging	Het
Mgat3	C	T	15: 80,212,577	T535I	probably benign	Het
Nav3	T	C	10: 109,716,642	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,446,831	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,188,255	F441I	probably benign	Het
Obscn	A	G	11: 59,051,521		probably benign	Het
Olfr221	T	C	14: 52,035,985	N42S	possibly damaging	Het
Olfr444	T	C	6: 42,955,773	S92P	probably benign	Het
Olfr59	T	C	11: 74,288,675	F10L	probably benign	Het
Olfr688	T	C	7: 105,288,519	V142A	probably damaging	Het
Osr1	A	T	12: 9,579,691	Y188F	probably damaging	Het
Pak2	A	T	16: 32,033,843	N293K	possibly damaging	Het
Pappa	A	T	4: 65,307,812	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,753,126	Q679*	probably null	Het
Pik3r5	T	A	11: 68,486,622		probably null	Het
Plbd2	C	T	5: 120,486,039		probably null	Het
Ppp1r3a	G	T	6: 14,754,517	P244T	possibly damaging	Het
Pum1	C	A	4: 130,772,674	R960S	probably benign	Het
Ralgapb	T	C	2: 158,473,249	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,758,835	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,760,037	I34F	probably damaging	Het
Rgl3	T	A	9: 21,974,102	Q644L	probably benign	Het
Rpap2	T	C	5: 107,620,474	S393P	probably damaging	Het
Rsad2	T	C	12: 26,456,377	S15G	probably damaging	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
S100a11	A	C	3: 93,524,202		probably null	Het
Sept4	T	C	11: 87,581,196	S11P	probably benign	Het
Serpina1c	T	C	12: 103,896,091	S322G	probably benign	Het
Setdb1	A	T	3: 95,341,451	C385S	probably damaging	Het
Shank2	A	T	7: 144,192,467	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,686,301		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tbcd	C	A	11: 121,594,274	Q761K	probably benign	Het
Tmed6	C	T	8: 107,065,566	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,702	T18A	probably benign	Het
Tsc1	T	A	2: 28,678,943		probably benign	Het
Ube2m	T	C	7: 13,035,730	N49D	probably damaging	Het
Ubqlnl	T	C	7: 104,150,047	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,715,405	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,875,867	R24S	probably benign	Het
Wfs1	C	A	5: 36,973,194	S236I	probably damaging	Het
Xpot	A	T	10: 121,605,639	N560K	probably benign	Het
Yipf3	A	G	17: 46,251,577	T303A	probably benign	Het
Zfp790	T	C	7: 29,824,875	W19R	probably damaging	Het
Zfp846	T	C	9: 20,594,007	C388R	probably benign	Het
Zpr1	T	A	9: 46,273,336	I47N	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
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
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
R7945:Ep300	UTSW	15	81650753	missense	probably damaging	1.00
RF020:Ep300	UTSW	15	81586571	start gained	probably benign
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCAATGGCCTTTGAAAACAAGTAGT -3'
(R):5'- TGTAAATCACCTAACACCCAGCCTTTCT -3'

Sequencing Primer
(F):5'- ATGAGAACTGTTAGTGCATCTGC -3'
(R):5'- CTGATACAGCCTTGTCAAGCATC -3'

Posted On

2013-04-11