Mutagenetix > Incidental Mutations

Incidental Mutation 'R6144:Ep300'

488768

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

044291-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81601234 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 141 (S141G)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: S141G

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: S141G

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

noncoding transcript
Transcript: ENSMUST00000189338

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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
3300002I08Rik	A	T	2: 150,344,644	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,689,533	R246H	probably damaging	Het
Agbl1	A	G	7: 76,420,084	T203A	probably benign	Het
Alms1	T	A	6: 85,623,074	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,762,657		probably benign	Het
Arap3	C	A	18: 37,985,433	G814C	probably damaging	Het
Armc9	T	G	1: 86,244,579	I5S	probably benign	Het
Catsperg1	T	C	7: 29,210,695	T74A	probably damaging	Het
Ccpg1os	C	A	9: 72,979,988	C79F	probably damaging	Het
Cdca7l	T	A	12: 117,873,711		probably null	Het
Cfhr2	T	A	1: 139,805,415		probably benign	Het
Chpt1	A	G	10: 88,453,093		probably benign	Het
Cntrl	A	C	2: 35,165,733	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,974,080	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,083	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,306,886		probably null	Het
Creb3l1	T	C	2: 91,992,005	H212R	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,321,609	D254G	possibly damaging	Het
Ddx58	T	C	4: 40,229,551	I78V	probably benign	Het
Dennd1b	A	G	1: 139,081,255	H232R	probably damaging	Het
Dhx29	T	C	13: 112,964,571	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,396,419	I307T	possibly damaging	Het
Evl	A	C	12: 108,653,031	K101T	probably damaging	Het
Exph5	G	A	9: 53,373,028	G470R	probably benign	Het
Fam126a	T	C	5: 23,966,369	S352G	possibly damaging	Het
Flg	A	T	3: 93,283,208		probably benign	Het
Gm45704	T	A	8: 72,784,292			Het
Grm1	T	C	10: 11,079,896	M215V	probably benign	Het
Hadha	T	C	5: 30,140,996	D210G	probably benign	Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Hrc	A	T	7: 45,336,733	H436L	possibly damaging	Het
Ido1	T	A	8: 24,585,290	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,223,482	R222L	probably benign	Het
Khnyn	T	C	14: 55,887,839	V485A	probably damaging	Het
Kifc5b	T	C	17: 26,921,852	V100A	probably benign	Het
Lsm10	T	C	4: 126,098,001	M50T	probably damaging	Het
Map3k6	T	G	4: 133,245,675	W382G	probably damaging	Het
Mink1	T	A	11: 70,610,652	F922I	possibly damaging	Het
Mpp5	T	C	12: 78,824,789	V381A	possibly damaging	Het
Mrap2	T	C	9: 87,175,818	V53A	probably damaging	Het
Mrps7	C	A	11: 115,604,174	A5E	probably benign	Het
Muc4	A	G	16: 32,766,924	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,812,386	S249P	probably damaging	Het
Neil3	T	C	8: 53,599,412	T384A	probably benign	Het
Noc3l	A	T	19: 38,798,955	I504K	probably damaging	Het
Nudt13	A	G	14: 20,307,771	N107S	probably benign	Het
Olfr134	T	A	17: 38,175,225	L47H	probably damaging	Het
Olfr368	T	A	2: 37,332,113	M122K	probably damaging	Het
Olfr747	C	A	14: 50,680,935	R233L	probably benign	Het
Otub1	G	T	19: 7,199,153	Y205*	probably null	Het
Plpp7	T	A	2: 32,096,088	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011	Y188D	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpap1	A	T	2: 119,772,647	C602*	probably null	Het
Sbds	T	C	5: 130,246,344	K248E	probably benign	Het
Serpina10	A	T	12: 103,628,833	N42K	probably benign	Het
Slc7a8	A	G	14: 54,729,340	L368P	probably damaging	Het
Srrm1	T	C	4: 135,337,873		probably benign	Het
Sun2	C	T	15: 79,730,332	V288I	probably benign	Het
Tas2r107	C	A	6: 131,660,003	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,146,328	I268T	probably benign	Het
Tjp2	A	G	19: 24,120,073	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,879,141		probably null	Het
Trdv2-2	A	T	14: 53,961,304	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,673,100	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,843,166	T582A	probably benign	Het
Zfp788	T	C	7: 41,649,769	S558P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTTCAGACAAGTCTTGGC -3'
(R):5'- CAATGGAACCGTTCATGACTTG -3'

Sequencing Primer
(F):5'- GCTTCAGACAAGTCTTGGCATAGTAC -3'
(R):5'- ATGACTTGATTGGGCATTATCCC -3'

Posted On

2017-10-10