Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Ep300'

49389

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 81600896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

probably benign
Transcript: ENSMUST00000068387

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in Ep300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ep300	APN	15	81,641,418 (GRCm38)	missense	unknown
IGL01128:Ep300	APN	15	81,630,006 (GRCm38)	unclassified	probably benign
IGL01151:Ep300	APN	15	81,623,472 (GRCm38)	intron	probably benign
IGL01414:Ep300	APN	15	81,627,266 (GRCm38)	unclassified	probably benign
IGL01564:Ep300	APN	15	81,632,464 (GRCm38)	unclassified	probably benign
IGL01875:Ep300	APN	15	81,640,023 (GRCm38)	missense	unknown
IGL01945:Ep300	APN	15	81,616,109 (GRCm38)	unclassified	probably benign
IGL02022:Ep300	APN	15	81,611,437 (GRCm38)	unclassified	probably benign
IGL02115:Ep300	APN	15	81,648,818 (GRCm38)	missense	unknown
IGL02129:Ep300	APN	15	81,586,636 (GRCm38)	missense	unknown
IGL02145:Ep300	APN	15	81,601,166 (GRCm38)	missense	unknown
IGL02149:Ep300	APN	15	81,628,420 (GRCm38)	unclassified	probably benign
IGL02165:Ep300	APN	15	81,641,391 (GRCm38)	missense	probably benign	0.39
IGL02226:Ep300	APN	15	81,613,412 (GRCm38)	missense	unknown
IGL02610:Ep300	APN	15	81,601,522 (GRCm38)	missense	unknown
IGL02731:Ep300	APN	15	81,648,414 (GRCm38)	missense	unknown
IGL03239:Ep300	APN	15	81,641,388 (GRCm38)	missense	unknown
BB001:Ep300	UTSW	15	81,649,502 (GRCm38)	missense	unknown
BB011:Ep300	UTSW	15	81,649,502 (GRCm38)	missense	unknown
R0077:Ep300	UTSW	15	81,641,313 (GRCm38)	missense	unknown
R0145:Ep300	UTSW	15	81,616,127 (GRCm38)	critical splice donor site	probably null
R0244:Ep300	UTSW	15	81,640,128 (GRCm38)	missense	unknown
R0390:Ep300	UTSW	15	81,640,116 (GRCm38)	missense	unknown
R0671:Ep300	UTSW	15	81,616,134 (GRCm38)	unclassified	probably benign
R0840:Ep300	UTSW	15	81,644,933 (GRCm38)	missense	unknown
R1166:Ep300	UTSW	15	81,630,064 (GRCm38)	unclassified	probably benign
R1737:Ep300	UTSW	15	81,626,347 (GRCm38)	missense	probably damaging	0.99
R1893:Ep300	UTSW	15	81,631,646 (GRCm38)	unclassified	probably benign
R2136:Ep300	UTSW	15	81,640,447 (GRCm38)	missense	unknown
R3427:Ep300	UTSW	15	81,601,279 (GRCm38)	missense	unknown
R3757:Ep300	UTSW	15	81,648,589 (GRCm38)	missense	unknown
R3892:Ep300	UTSW	15	81,619,997 (GRCm38)	unclassified	probably benign
R4554:Ep300	UTSW	15	81,601,430 (GRCm38)	missense	unknown
R4575:Ep300	UTSW	15	81,611,410 (GRCm38)	unclassified	probably benign
R4575:Ep300	UTSW	15	81,649,009 (GRCm38)	missense	unknown
R4577:Ep300	UTSW	15	81,649,009 (GRCm38)	missense	unknown
R4577:Ep300	UTSW	15	81,611,410 (GRCm38)	unclassified	probably benign
R4578:Ep300	UTSW	15	81,611,410 (GRCm38)	unclassified	probably benign
R4578:Ep300	UTSW	15	81,649,009 (GRCm38)	missense	unknown
R5021:Ep300	UTSW	15	81,640,023 (GRCm38)	missense	unknown
R5366:Ep300	UTSW	15	81,616,100 (GRCm38)	missense	probably benign	0.24
R5372:Ep300	UTSW	15	81,636,830 (GRCm38)	missense	unknown
R5393:Ep300	UTSW	15	81,631,618 (GRCm38)	unclassified	probably benign
R5410:Ep300	UTSW	15	81,648,854 (GRCm38)	missense	unknown
R5571:Ep300	UTSW	15	81,643,217 (GRCm38)	intron	probably benign
R5701:Ep300	UTSW	15	81,601,495 (GRCm38)	missense	unknown
R5772:Ep300	UTSW	15	81,639,914 (GRCm38)	intron	probably benign
R5825:Ep300	UTSW	15	81,611,472 (GRCm38)	missense	probably benign	0.39
R5917:Ep300	UTSW	15	81,628,607 (GRCm38)	unclassified	probably benign
R5991:Ep300	UTSW	15	81,648,466 (GRCm38)	missense	unknown
R6019:Ep300	UTSW	15	81,641,382 (GRCm38)	missense	unknown
R6144:Ep300	UTSW	15	81,601,234 (GRCm38)	missense	unknown
R6291:Ep300	UTSW	15	81,648,507 (GRCm38)	missense	unknown
R6292:Ep300	UTSW	15	81,616,734 (GRCm38)	unclassified	probably benign
R6599:Ep300	UTSW	15	81,586,713 (GRCm38)	missense	unknown
R6804:Ep300	UTSW	15	81,641,311 (GRCm38)	nonsense	probably null
R6925:Ep300	UTSW	15	81,649,981 (GRCm38)	missense	probably benign	0.32
R7327:Ep300	UTSW	15	81,627,314 (GRCm38)	missense	unknown
R7378:Ep300	UTSW	15	81,650,545 (GRCm38)	missense	probably damaging	0.97
R7388:Ep300	UTSW	15	81,648,366 (GRCm38)	missense	unknown
R7419:Ep300	UTSW	15	81,648,514 (GRCm38)	missense	unknown
R7498:Ep300	UTSW	15	81,639,843 (GRCm38)	missense	unknown
R7584:Ep300	UTSW	15	81,628,426 (GRCm38)	missense	unknown
R7605:Ep300	UTSW	15	81,621,152 (GRCm38)	missense	unknown
R7619:Ep300	UTSW	15	81,608,198 (GRCm38)	missense	unknown
R7699:Ep300	UTSW	15	81,586,393 (GRCm38)	start gained	probably benign
R7763:Ep300	UTSW	15	81,586,583 (GRCm38)	start gained	probably benign
R7775:Ep300	UTSW	15	81,586,686 (GRCm38)	missense	unknown
R7778:Ep300	UTSW	15	81,586,686 (GRCm38)	missense	unknown
R7862:Ep300	UTSW	15	81,650,753 (GRCm38)	missense	probably damaging	1.00
R7924:Ep300	UTSW	15	81,649,502 (GRCm38)	missense	unknown
R8155:Ep300	UTSW	15	81,621,068 (GRCm38)	missense	unknown
R8259:Ep300	UTSW	15	81,639,017 (GRCm38)	missense	unknown
R8276:Ep300	UTSW	15	81,650,028 (GRCm38)	missense	possibly damaging	0.85
R8331:Ep300	UTSW	15	81,601,210 (GRCm38)	missense	unknown
R8554:Ep300	UTSW	15	81,639,027 (GRCm38)	missense	unknown
R9019:Ep300	UTSW	15	81,648,529 (GRCm38)	missense	unknown
R9128:Ep300	UTSW	15	81,649,745 (GRCm38)	missense	unknown
R9379:Ep300	UTSW	15	81,648,559 (GRCm38)	missense	unknown
R9380:Ep300	UTSW	15	81,616,044 (GRCm38)	missense	unknown
R9484:Ep300	UTSW	15	81,636,825 (GRCm38)	missense	unknown
R9659:Ep300	UTSW	15	81,621,072 (GRCm38)	missense	unknown
R9690:Ep300	UTSW	15	81,636,195 (GRCm38)	missense	unknown
R9721:Ep300	UTSW	15	81,608,315 (GRCm38)	missense	unknown
RF020:Ep300	UTSW	15	81,586,571 (GRCm38)	start gained	probably benign
Z1177:Ep300	UTSW	15	81,630,097 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTAACTTGGTGTTATGCCTCGGTTC -3'
(R):5'- CAGACCTCAGCAGTTCTGACAGC -3'

Sequencing Primer
(F):5'- gaacttagaaatccaccttgcc -3'
(R):5'- ATCGCCACCATTGGTTAGTC -3'

Posted On

2013-06-12