Mutagenetix > Incidental Mutation

Incidental Mutation 'R7605:Ep300'

588269

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

045675-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81621152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 658 (M658L)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: M658L

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M658L

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: ENSMUST00000206936
AA Change: M31L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,918,164	L610P	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Asphd2	A	G	5: 112,391,941	W9R	probably damaging	Het
Blvrb	T	A	7: 27,465,793	H179Q	probably damaging	Het
Capn13	A	T	17: 73,345,137		probably null	Het
Casp6	A	T	3: 129,912,163	M160L	probably benign	Het
Chordc1	A	G	9: 18,304,372	E140G	probably benign	Het
Col24a1	A	T	3: 145,538,687	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,541,732	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,297,953	M306K	probably damaging	Het
Dhx33	A	G	11: 70,999,473	L240P	probably damaging	Het
Dna2	T	A	10: 62,960,275	D494E	probably benign	Het
Dnah7c	C	T	1: 46,632,310	R1620C	probably damaging	Het
Dpp8	G	A	9: 65,054,958	V427M	probably benign	Het
Dpt	G	A	1: 164,796,831	G34S	unknown	Het
Emb	T	A	13: 117,264,510	N198K	probably damaging	Het
Entpd5	T	G	12: 84,396,708	H62P	probably damaging	Het
Epb41l4a	T	A	18: 33,797,451	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Ephb2	A	T	4: 136,771,108	V220E	probably damaging	Het
Fam187a	T	A	11: 102,886,048	L226H	possibly damaging	Het
Fbxo42	G	A	4: 141,199,818	A470T	probably benign	Het
Fcgrt	C	T	7: 45,095,251	W264*	probably null	Het
Flt3	A	C	5: 147,349,576	H733Q	probably benign	Het
Gabrr2	A	G	4: 33,082,560	D228G	probably damaging	Het
Gars	T	C	6: 55,077,750	S681P	probably damaging	Het
Gata2	T	C	6: 88,200,408	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,434,927	N100I		Het
Grik4	A	G	9: 42,688,071	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,679	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Igsf9b	C	T	9: 27,323,312	T491I	probably damaging	Het
Impa1	C	T	3: 10,324,087	V105I	probably damaging	Het
Inf2	A	G	12: 112,601,337	T134A	probably damaging	Het
Itgb4	T	A	11: 116,006,476	V1521E	probably benign	Het
Iws1	T	A	18: 32,089,487	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,576,331	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244	C83R	probably damaging	Het
Madd	G	A	2: 91,169,710	T617M	possibly damaging	Het
Magi2	A	G	5: 20,228,385	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,066,777	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,643,114	I230F	probably benign	Het
Mroh2b	C	T	15: 4,945,023	L1162F	probably damaging	Het
Olfr1019	A	G	2: 85,841,039	F251L	probably benign	Het
Olfr170	T	C	16: 19,606,272	Y131C	probably damaging	Het
Olfr266	G	T	3: 106,822,021	H179Q	probably damaging	Het
Olfr311	A	G	11: 58,841,500	I129V	probably benign	Het
Olfr560	C	T	7: 102,753,745	M61I	probably benign	Het
Olfr631	T	C	7: 103,928,868	L15P	probably damaging	Het
Pclo	T	C	5: 14,679,036	L2636P	unknown	Het
Pfkm	G	A	15: 98,121,310	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,702,838	A169T	probably benign	Het
R3hdml	T	A	2: 163,495,768	M114K	probably damaging	Het
Robo1	C	A	16: 73,024,301	R1310S	probably benign	Het
Scnm1	A	T	3: 95,132,875	N115K	probably benign	Het
Sfn	A	G	4: 133,601,237	V178A	probably damaging	Het
Shank2	C	T	7: 144,091,779	T366I	possibly damaging	Het
Siah1a	T	C	8: 86,725,325	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,237,328	I286S	possibly damaging	Het
Smarce1	T	C	11: 99,228,292	T12A	probably benign	Het
Spata31d1c	T	A	13: 65,035,840	S399T	probably benign	Het
Specc1	A	G	11: 62,211,680	S942G	possibly damaging	Het
Syt13	T	C	2: 92,943,133	F164S	probably benign	Het
Topbp1	A	T	9: 103,332,706	T851S	probably benign	Het
Ttn	A	T	2: 76,969,671	S398T	unknown	Het
Vmn1r12	T	C	6: 57,159,536	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,419,959	W266*	probably null	Het
Vmn2r68	T	C	7: 85,233,908	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,646	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,854,357	F179V	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	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
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'- ACCTTGAACAGTTGCTGTACTG -3'
(R):5'- TTCTACTTGGAAGGCTCCCTTG -3'

Sequencing Primer
(F):5'- TCAAGACAGGGTTTCTCTGAGAC -3'
(R):5'- GCTCCCTTGAGGAGTAAAAA -3'

Posted On

2019-10-24