Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Ep300'

575569

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

045497-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81648514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1651 (M1651K)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: M1651K

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M1651K

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

0.8236

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,276,959	S572P	probably damaging	Het
Abca13	T	C	11: 9,297,833	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,422,423	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,279	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,127,527	T117A	probably benign	Het
Asb15	A	G	6: 24,556,556	I17V	probably benign	Het
Atf2	A	G	2: 73,842,433	V194A	probably benign	Het
Capn7	T	C	14: 31,349,822	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512	S28C	probably benign	Het
Cct4	C	T	11: 22,996,420	T162I	probably benign	Het
Cdc40	A	T	10: 40,841,443	H417Q	probably damaging	Het
Celf1	A	G	2: 91,003,243	I115V	probably benign	Het
Ces3a	A	G	8: 105,056,424	Y395C	probably damaging	Het
Cfh	C	A	1: 140,105,466	C798F	probably damaging	Het
Clstn3	T	C	6: 124,458,129	T313A	probably benign	Het
Crmp1	T	A	5: 37,278,885	M329K	probably benign	Het
Csf2ra	C	T	19: 61,227,053	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,888,443	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,314,763	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,611,037	M268R	probably benign	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,523,463	I56T	probably damaging	Het
Eif2d	T	A	1: 131,171,056	S530R	probably benign	Het
Epha3	G	A	16: 63,598,294	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,438,802	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,000,236	N4142K	probably damaging	Het
Galnt5	C	A	2: 58,014,925	S500Y	probably damaging	Het
Gas6	A	G	8: 13,471,456	V431A	probably benign	Het
Gm21818	A	G	13: 120,173,458	E92G	probably damaging	Het
Gm7544	C	T	1: 82,955,781	C56Y	unknown	Het
Golgb1	T	A	16: 36,912,919	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,265,251		probably null	Het
Gpr33	T	C	12: 52,023,267	T330A	probably benign	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Ifi205	A	G	1: 174,028,308	M52T	possibly damaging	Het
Ino80	A	T	2: 119,380,014	D1346E	probably benign	Het
Ino80c	T	C	18: 24,108,779	K183R	unknown	Het
Itgal	G	T	7: 127,306,875	R379L	probably benign	Het
Itih3	T	A	14: 30,914,773	T582S	probably benign	Het
Kcnb2	T	C	1: 15,711,027	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,915,999	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,641,542	D473N	probably benign	Het
Lama1	T	G	17: 67,717,174	I89R		Het
Lama2	A	G	10: 27,266,634	I616T	probably benign	Het
Lipm	A	C	19: 34,116,481	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,629,761	H244L	probably benign	Het
Lrrtm3	T	C	10: 64,088,146	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,329,767	V231A	unknown	Het
Me3	G	T	7: 89,736,719	R92L	probably damaging	Het
Mroh7	T	G	4: 106,683,918	I1175L	probably benign	Het
Muc16	A	G	9: 18,641,962	M4345T	probably benign	Het
Mug2	A	G	6: 122,040,570	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,367,566	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,382,982	Q24*	probably null	Het
Olfr1047	C	T	2: 86,228,213	G253R	probably damaging	Het
Olfr1150-ps1	A	T	2: 87,847,062	T264S	probably benign	Het
Olfr1274-ps	A	G	2: 90,401,459	D266G	probably damaging	Het
Olfr1306	G	A	2: 111,912,090	P280L	probably damaging	Het
Olfr1378	T	A	11: 50,969,325	Y102*	probably null	Het
Olfr701	T	C	7: 106,818,344	L87P	possibly damaging	Het
Olfr711	A	G	7: 106,972,146	M66T	probably benign	Het
Olfr731	A	C	14: 50,237,991	V298G	possibly damaging	Het
Olfr839-ps1	A	C	9: 19,175,346	M110R	possibly damaging	Het
Olfr937	T	A	9: 39,060,169	I166L	probably benign	Het
Oser1	A	T	2: 163,411,444	D48E	probably benign	Het
Piwil4	G	A	9: 14,702,395	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,305,698		probably null	Het
Plxna1	A	G	6: 89,357,602	L15P	unknown	Het
Ppan	C	T	9: 20,891,844	T404I	probably benign	Het
Pros1	C	A	16: 62,928,070	Y635*	probably null	Het
Rabep2	G	A	7: 126,444,170	R414Q	probably benign	Het
Rbms3	T	A	9: 116,822,826	E201V	probably damaging	Het
Robo4	A	C	9: 37,402,809	I119L	probably benign	Het
S100b	A	T	10: 76,259,986	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,689,842	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,227,091		probably null	Het
Slc30a6	T	C	17: 74,423,429	V438A	probably benign	Het
Sobp	A	G	10: 43,021,808	S594P	probably benign	Het
Tmem45b	T	C	9: 31,428,038	D213G	probably benign	Het
Topbp1	T	A	9: 103,323,344	D525E	probably benign	Het
Trim30c	G	T	7: 104,388,265	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023	D1617V	unknown	Het
Ush1c	A	G	7: 46,229,255	L112P	probably damaging	Het
Vipr1	T	A	9: 121,661,473	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,075,355	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,472,123	Y749N	probably damaging	Het
Vps13d	A	T	4: 145,115,503	S2615R		Het
Whrn	A	G	4: 63,416,093	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,209,165	V304A	probably benign	Het
Zeb2	A	T	2: 44,996,347	N899K	probably benign	Het
Zfp148	T	C	16: 33,497,141	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,913,763	I712N	possibly damaging	Het
Zfp683	T	C	4: 134,058,900	V446A	probably benign	Het
Zranb3	A	T	1: 127,963,851	V796D	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
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'- CAGTGGCATTGCAGTTCGAAAG -3'
(R):5'- GGGCAGAGGTTTGTAACACATG -3'

Sequencing Primer
(F):5'- GCATTGCAGTTCGAAAGTCACAATG -3'
(R):5'- GGCAGAGGTTTGTAACACATGTTTAC -3'

Posted On

2019-10-07