Mutagenetix > Incidental Mutation

Incidental Mutation 'R1737:Ep300'

199817

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

039769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1737 (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 81626347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 99 (Y99H)

Ref Sequence

ENSEMBL: ENSMUSP00000145639 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: Y752H

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: Y752H

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 damaging
Transcript: ENSMUST00000206936
AA Change: Y99H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Ak7	G	A	12: 105,742,332	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,285,171	E436V	possibly damaging	Het
Apc	C	A	18: 34,317,022	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,827,238		probably benign	Het
Bahd1	T	C	2: 118,915,923	S8P	probably damaging	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
Capn10	T	C	1: 92,934,955	Y28H	probably benign	Het
Ccdc129	A	T	6: 55,968,304	D670V	probably damaging	Het
Cdh10	A	T	15: 18,964,063	I104F	probably damaging	Het
Cep170b	A	G	12: 112,736,627	D508G	possibly damaging	Het
Ces2a	G	T	8: 104,740,824	A494S	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cltc	G	A	11: 86,733,727	T123M	probably damaging	Het
Cnot1	A	G	8: 95,748,276	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,703,451	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,344,961		probably benign	Het
Cyp7a1	T	A	4: 6,272,848	T122S	probably benign	Het
Dock4	A	G	12: 40,807,001		probably null	Het
Eid2	T	C	7: 28,268,499	V182A	possibly damaging	Het
Eloa	A	T	4: 136,010,770	V293D	probably benign	Het
Enkur	G	A	2: 21,194,295	P143S	probably damaging	Het
Fbxw5	C	A	2: 25,503,584	L66I	probably benign	Het
Flg2	A	T	3: 93,203,621	R985S	unknown	Het
Fscb	A	T	12: 64,474,581	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,368,404	N3S	probably benign	Het
H2-Q7	A	C	17: 35,439,626	Y80S	probably damaging	Het
H60c	A	T	10: 3,259,914	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,711,546	V361E	probably damaging	Het
Ice1	A	C	13: 70,606,325	C547W	probably damaging	Het
Jmy	A	G	13: 93,498,795	V171A	probably damaging	Het
Klf7	C	A	1: 64,079,213	R75L	possibly damaging	Het
Klk1b1	A	T	7: 43,970,359	Q114L	probably benign	Het
Krt10	A	G	11: 99,387,387	M280T	possibly damaging	Het
Lama1	G	A	17: 67,802,921	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,484,929	P117S	possibly damaging	Het
Med18	A	T	4: 132,460,109	S71R	probably damaging	Het
Mov10l1	T	A	15: 89,011,404	I643N	possibly damaging	Het
Nfib	T	C	4: 82,498,589	K70E	probably damaging	Het
Nr3c2	A	C	8: 76,908,329	S20R	probably benign	Het
Nr6a1	A	T	2: 38,738,943	F356L	probably benign	Het
Oca2	G	A	7: 56,328,785	R567H	probably damaging	Het
Olfr370	A	G	8: 83,541,416	S91G	probably benign	Het
Olfr395	T	A	11: 73,907,085	M136L	possibly damaging	Het
Olfr59	T	C	11: 74,288,811	L55P	probably damaging	Het
Olfr794	T	A	10: 129,570,828	Y58N	probably damaging	Het
Olfr952	T	C	9: 39,426,958	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,412,956	T362A	probably benign	Het
Pip5k1b	A	T	19: 24,397,040	V59E	probably damaging	Het
Pkhd1l1	G	A	15: 44,547,509		probably null	Het
Prr36	T	C	8: 4,214,370		probably benign	Het
Ptger2	A	G	14: 45,001,771	T289A	probably benign	Het
Rad18	A	G	6: 112,681,537	F136L	probably damaging	Het
Rhbg	T	A	3: 88,245,874	S258C	probably damaging	Het
Scgb2b27	T	C	7: 34,013,314	I34M	possibly damaging	Het
Senp7	C	A	16: 56,123,799	T135K	probably damaging	Het
Slc20a2	A	G	8: 22,545,566	I193M	probably damaging	Het
Slc27a1	G	A	8: 71,570,860	V47I	probably benign	Het
Slc9a5	G	A	8: 105,368,134	V786M	probably damaging	Het
Smyd1	A	G	6: 71,216,891	L350P	probably damaging	Het
Ston2	A	T	12: 91,647,907	F576I	probably damaging	Het
Sulf2	A	T	2: 166,082,678	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,191,222	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,519,777	N256I	probably damaging	Het
Uspl1	T	A	5: 149,201,858	C349S	probably damaging	Het
Vcl	T	C	14: 21,020,536	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,611,061	F85I	probably benign	Het
Zfp318	A	G	17: 46,399,477	T709A	probably benign	Het
Zfr2	T	C	10: 81,242,085	S249P	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
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
RF020:Ep300	UTSW	15	81586571	start gained	probably benign
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GATATCTTGGAGCCCTGTGTCCCT -3'
(R):5'- CCAAGCCTGGAAATCTGCATACACT -3'

Sequencing Primer
(F):5'- GTGTTTGGTACTTACAAGCCTATTC -3'
(R):5'- AGAGTCGGGTACATACTATTGTC -3'

Posted On

2014-05-23