Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02149:Ep300'

281902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 81628420 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068387] [ENSMUST00000206936]

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: M981R

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M981R

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

probably benign
Transcript: ENSMUST00000185967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189338

Predicted Effect

probably benign
Transcript: ENSMUST00000206833

Predicted Effect

probably benign
Transcript: ENSMUST00000206936

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,703,431	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,540,477	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,179,261	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,500,354	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,642,284	A360V	probably benign	Het
AW551984	A	C	9: 39,592,924	M582R	probably benign	Het
B430306N03Rik	T	C	17: 48,316,992	V107A	probably benign	Het
Cage1	T	C	13: 38,022,529	N447D	probably damaging	Het
Col17a1	T	C	19: 47,668,632	D524G	probably benign	Het
Dpp6	A	T	5: 27,538,024	I218F	probably benign	Het
Ephb2	C	T	4: 136,693,914	C375Y	probably damaging	Het
Fastk	A	G	5: 24,444,053	V112A	probably damaging	Het
Fbxo11	T	A	17: 87,993,759	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,233,818		probably null	Het
Hamp2	G	T	7: 30,922,697	A50E	probably damaging	Het
Iltifb	C	A	10: 118,294,997		probably benign	Het
Ints1	G	A	5: 139,751,960	R2139C	probably damaging	Het
Itgae	T	A	11: 73,103,894	V24E	probably benign	Het
Jakmip3	G	A	7: 139,007,346	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,518,840		probably benign	Het
Klra1	A	T	6: 130,375,330	C150S	probably damaging	Het
Lhx9	A	T	1: 138,831,434	V376E	probably damaging	Het
Mdm1	T	A	10: 118,148,065	F199I	probably damaging	Het
Nipal3	G	T	4: 135,466,852	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,503,820	E387K	probably damaging	Het
Olfr902	A	G	9: 38,449,397	H175R	probably damaging	Het
Oxct1	A	G	15: 4,091,229	Y265C	probably damaging	Het
Pccb	G	A	9: 100,985,190	H411Y	probably damaging	Het
Pkp1	A	G	1: 135,886,747	S279P	probably benign	Het
Prdm14	C	A	1: 13,125,439	G133C	probably benign	Het
Prkaa2	A	T	4: 105,040,088	N309K	probably benign	Het
Shc2	T	C	10: 79,622,268	D527G	probably damaging	Het
Shkbp1	C	T	7: 27,342,639		probably benign	Het
Skil	T	C	3: 31,097,707	V126A	possibly damaging	Het
Slc25a36	A	T	9: 97,093,069		probably benign	Het
Slc2a13	T	C	15: 91,343,721	T423A	probably benign	Het
Spty2d1	A	G	7: 47,008,144		probably benign	Het
Stag1	A	G	9: 100,887,389	D519G	probably benign	Het
Tmprss2	G	T	16: 97,599,279		probably benign	Het
Trim66	G	T	7: 109,460,902	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,639,547	A530S	probably damaging	Het
Ttn	A	T	2: 76,811,755	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,398,684	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,721,273	S31P	probably benign	Het
Ubxn7	A	G	16: 32,375,270	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,229,007	Y61C	probably benign	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
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
RF020:Ep300	UTSW	15	81586571	start gained	probably benign
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Posted On

2015-04-16