Mutagenetix > Incidental Mutation

Incidental Mutation 'R7378:Ep300'

572535

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

045460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81650545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2268 (S2268P)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068387
AA Change: S2268P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S2268P

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

Meta Mutation Damage Score

0.0730

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (138/140)

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: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,546,247		probably null	Het
Aars	A	G	8: 111,042,342	Y258C	probably damaging	Het
Acaa2	A	T	18: 74,805,872	Y376F	probably benign	Het
Adcy1	C	T	11: 7,169,543	S1062F	possibly damaging	Het
Adgrb3	A	T	1: 25,531,919	C492*	probably null	Het
Adgrg6	A	G	10: 14,535,892	F22S	probably benign	Het
Adh1	A	G	3: 138,288,887		probably null	Het
Afm	T	A	5: 90,551,400	C568S	probably benign	Het
Ago4	C	T	4: 126,511,464	E439K	probably benign	Het
Aifm2	T	G	10: 61,727,717	V122G	possibly damaging	Het
Akap6	A	G	12: 53,142,574	N2257S	probably benign	Het
Ap3m2	A	G	8: 22,804,010	I8T	probably benign	Het
Apc2	C	A	10: 80,311,394	L761I	probably damaging	Het
Arntl	C	A	7: 113,299,208	T281K	probably benign	Het
Asap2	A	G	12: 21,112,051	D3G	probably benign	Het
Asna1	A	T	8: 85,019,863	F119I	probably benign	Het
Asxl1	T	C	2: 153,401,993	C1489R	probably damaging	Het
Atm	T	G	9: 53,453,437		probably null	Het
Bpifa6	C	A	2: 153,986,433	A153E	probably damaging	Het
Cav2	A	G	6: 17,282,060	T106A	probably benign	Het
Cavin4	A	G	4: 48,663,631	N4D	probably benign	Het
Cenpc1	T	C	5: 86,046,499	N136S	probably benign	Het
Cfap45	T	A	1: 172,538,343		probably null	Het
Col3a1	G	A	1: 45,327,647		probably null	Het
Crocc2	C	T	1: 93,194,087	L653F	probably damaging	Het
Cry2	A	G	2: 92,413,664	L388P	probably damaging	Het
Cstb	T	C	10: 78,426,988	F43S	probably damaging	Het
Ctcfl	A	G	2: 173,112,258	Y349H	probably damaging	Het
Ctu2	T	A	8: 122,481,499	V485D	probably damaging	Het
Cwc25	A	C	11: 97,747,997	L367R	possibly damaging	Het
Dock4	T	A	12: 40,788,244	H1061Q	possibly damaging	Het
Dpy19l3	C	A	7: 35,752,642	V26L	probably benign	Het
Dusp27	G	T	1: 166,112,063	S58*	probably null	Het
Elmo1	A	T	13: 20,280,935	I225F	probably benign	Het
F2r	C	T	13: 95,618,328	C16Y	probably damaging	Het
Fam126b	T	C	1: 58,530,034	K462R	probably benign	Het
Fbxo33	C	A	12: 59,204,371	E453*	probably null	Het
Flot1	A	T	17: 35,825,513	D186V	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fras1	T	C	5: 96,596,785	C560R	probably damaging	Het
Gfi1	A	T	5: 107,723,229	S165T	possibly damaging	Het
Gli2	T	C	1: 118,848,492	D400G	probably damaging	Het
Gm11639	T	C	11: 104,714,702	I298T	probably benign	Het
Gm37240	T	A	3: 84,972,637		probably null	Het
Gml	C	T	15: 74,817,121	V27I	possibly damaging	Het
Htt	A	T	5: 34,803,799	I257F	probably benign	Het
Ier5	C	T	1: 155,098,692	V247M	probably damaging	Het
Ift46	C	T	9: 44,778,595		probably benign	Het
Il12b	A	G	11: 44,407,894	T59A	probably benign	Het
Insr	A	G	8: 3,198,231	L438P	probably damaging	Het
Iqgap2	C	T	13: 95,732,890		probably null	Het
Irx4	A	T	13: 73,267,553	T154S	possibly damaging	Het
Itgbl1	A	G	14: 123,857,489	K309E	probably benign	Het
Kcns2	T	A	15: 34,839,703	L404*	probably null	Het
Kif2c	T	C	4: 117,162,029	E644G	possibly damaging	Het
Klhl22	T	C	16: 17,776,805	L266P	probably damaging	Het
Krt71	T	A	15: 101,738,329	K315*	probably null	Het
Lca5	T	C	9: 83,395,530	N587S	probably benign	Het
Lrp1b	T	A	2: 41,295,669	M1459L		Het
Lrrtm2	T	C	18: 35,213,592	K219R	probably damaging	Het
Mcmbp	T	C	7: 128,704,517	D459G	probably damaging	Het
Megf8	A	G	7: 25,348,942	H1680R	probably damaging	Het
Mia3	A	G	1: 183,334,775	S301P	probably benign	Het
Mtrr	A	G	13: 68,564,402	Y622H	probably damaging	Het
Myo7b	T	A	18: 31,966,239	Q1710L	probably damaging	Het
Nab1	T	C	1: 52,480,995	N276D	probably damaging	Het
Nalcn	C	T	14: 123,302,890	R1127H	probably damaging	Het
Nbas	T	A	12: 13,274,219	I110N	probably damaging	Het
Nfe2l3	C	T	6: 51,457,296	Q279*	probably null	Het
Nlrp9c	C	T	7: 26,365,015	E963K	probably benign	Het
Nsmaf	A	G	4: 6,416,586	V569A	probably benign	Het
Olfr1066	T	C	2: 86,456,068	T68A	probably benign	Het
Olfr1338	T	C	4: 118,754,175	Y123C	possibly damaging	Het
Olfr199	T	A	16: 59,215,920	D231V	probably benign	Het
Olfr273	C	T	4: 52,856,421	V31I	probably benign	Het
Olfr481	T	C	7: 108,081,192	S133P	not run	Het
Olfr669	A	T	7: 104,939,431	I302F	probably benign	Het
Olfr69	T	A	7: 103,767,930	I156F	probably benign	Het
Olfr851	T	A	9: 19,497,102	M118K	probably damaging	Het
Olfr857	A	T	9: 19,712,887	D20V	probably damaging	Het
Olfr933	T	A	9: 38,975,721	V15E	probably benign	Het
Paf1	A	G	7: 28,396,928	Y322C	probably damaging	Het
Pcdha2	C	A	18: 36,939,385	A23D	possibly damaging	Het
Pcdhb6	G	A	18: 37,335,172	C382Y	probably damaging	Het
Pdzd7	C	T	19: 45,045,606	G13D	probably damaging	Het
Pik3r2	T	C	8: 70,769,381	N586S	probably benign	Het
Pik3r3	T	A	4: 116,270,830	D119E	probably benign	Het
Pkd2l1	T	A	19: 44,153,715	I535F	probably benign	Het
Ppfia3	T	C	7: 45,361,446		probably null	Het
Ppl	T	A	16: 5,112,996	Q53L	possibly damaging	Het
Rimbp3	T	G	16: 17,211,204	S831A	probably benign	Het
Rnps1	A	G	17: 24,418,530	T49A	unknown	Het
Rpl7a	T	A	2: 26,912,007		probably null	Het
Rrm2b	T	A	15: 37,931,647	E248D	probably benign	Het
Sdhaf4	A	G	1: 23,996,358	F70L	probably damaging	Het
Sel1l3	A	T	5: 53,116,409	S1038R	probably benign	Het
Selenoo	T	A	15: 89,089,478	F124I	probably benign	Het
Setbp1	A	T	18: 78,857,486	Y989N	probably damaging	Het
Slc1a7	A	G	4: 108,002,203	E163G	possibly damaging	Het
Slc22a2	T	C	17: 12,612,391	F356S	probably damaging	Het
Slc24a4	C	T	12: 102,239,176	P378L	probably benign	Het
Slc4a1ap	A	G	5: 31,527,527	D169G	probably benign	Het
Slc4a7	T	A	14: 14,757,421	V422D	probably damaging	Het
Slitrk6	T	C	14: 110,749,863	Y804C	probably damaging	Het
Smarcad1	T	A	6: 65,110,376	H906Q	probably benign	Het
Smn1	A	G	13: 100,127,865	T109A	probably damaging	Het
Sntb2	A	G	8: 106,981,312	N236S	probably damaging	Het
Spag9	T	A	11: 94,114,351		probably null	Het
Spg11	C	A	2: 122,058,429	G2154W	probably damaging	Het
Srsf6	T	C	2: 162,934,569	S278P	unknown	Het
Stag3	G	A	5: 138,281,960	R29H	probably benign	Het
Stambp	C	T	6: 83,563,906	V98I	not run	Het
Suco	T	C	1: 161,862,211	D89G	possibly damaging	Het
Suox	C	T	10: 128,671,041	V373I	probably benign	Het
Sv2b	T	A	7: 75,147,728		probably null	Het
Tatdn2	T	C	6: 113,704,701	L565P	probably damaging	Het
Tbpl2	T	A	2: 24,094,700	E145V	probably benign	Het
Tlr1	T	C	5: 64,925,228	I669V	not run	Het
Tmc1	A	T	19: 20,868,389	F157I	probably damaging	Het
Tmem26	T	G	10: 68,724,092		probably null	Het
Tmem33	A	T	5: 67,286,133	I218F	probably benign	Het
Tmem94	T	A	11: 115,794,174	D862E	probably damaging	Het
Tnr	T	C	1: 159,884,862		probably null	Het
Tnrc6c	T	C	11: 117,741,780	S1103P	probably benign	Het
Tomm70a	T	A	16: 57,146,044	Y453*	probably null	Het
Trabd	C	A	15: 89,085,290	R229S	possibly damaging	Het
Trappc10	T	C	10: 78,193,418	D1095G	probably damaging	Het
Trim27	A	G	13: 21,192,461	T460A	possibly damaging	Het
Tsen54	T	G	11: 115,821,705	D433E	probably benign	Het
Ubap2	A	G	4: 41,235,515		probably null	Het
Vat1l	A	T	8: 114,289,392	N341Y	possibly damaging	Het
Vmn2r82	C	G	10: 79,396,442	Y758*	probably null	Het
Vps16	T	G	2: 130,438,179	V108G	probably damaging	Het
Vps53	T	A	11: 76,077,074	I585F	possibly damaging	Het
Wrnip1	G	A	13: 32,816,281	V424M	probably benign	Het
Yif1a	G	A	19: 5,089,790	V88M	possibly damaging	Het
Zfat	T	C	15: 68,181,120	Y275C	probably damaging	Het
Zfhx3	A	G	8: 108,793,248	E334G	probably damaging	Het
Zfp277	T	C	12: 40,315,853	D539G	possibly damaging	Het
Zfp292	A	T	4: 34,808,384	N1558K	probably benign	Het
Zfp3	A	G	11: 70,772,073	K286R	probably benign	Het
Zfp366	T	C	13: 99,229,515	C395R	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
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
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'- CCCAAGGAATTGGCTATCCAC -3'
(R):5'- CTGGTCTGTGGAGAAACATGG -3'

Sequencing Primer
(F):5'- AGGAATTGGCTATCCACCGCAG -3'
(R):5'- AGGCTGCATCCTCGGAGATG -3'

Posted On

2019-09-13