Mutagenetix > Incidental Mutation

Incidental Mutation 'R3757:Ep300'

271497

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3757 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81532790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1676 (V1676E)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: V1676E

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: V1676E

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: ENSMUST00000187776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206431

Meta Mutation Damage Score

0.6122

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

92% (35/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 81,986,415 (GRCm39)	I9K	probably benign	Het
Arhgap31	T	C	16: 38,457,362 (GRCm39)	E82G	probably damaging	Het
Asap2	T	A	12: 21,317,767 (GRCm39)	S993T	probably damaging	Het
Bmpr1a	A	T	14: 34,156,624 (GRCm39)	L134*	probably null	Het
Cacna1e	A	G	1: 154,509,442 (GRCm39)	V271A	probably damaging	Het
Cacna2d4	A	G	6: 119,218,124 (GRCm39)	E153G	probably damaging	Het
Cage1	A	C	13: 38,209,705 (GRCm39)	F91V	possibly damaging	Het
Cdh24	T	C	14: 54,869,637 (GRCm39)	D760G	possibly damaging	Het
Col9a1	T	C	1: 24,271,312 (GRCm39)		probably null	Het
Cts6	A	T	13: 61,349,972 (GRCm39)	Y36*	probably null	Het
Dennd3	C	G	15: 73,394,083 (GRCm39)	A36G	probably benign	Het
Dmxl1	G	A	18: 50,068,384 (GRCm39)	G2719D	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ercc4	C	T	16: 12,962,360 (GRCm39)	T668M	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gm10985	GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	3: 53,752,645 (GRCm39)		probably null	Het
H1f4	T	A	13: 23,806,240 (GRCm39)	K81*	probably null	Het
Havcr1	G	T	11: 46,643,407 (GRCm39)	R109L	probably damaging	Het
Krtap4-9	A	G	11: 99,676,444 (GRCm39)		probably benign	Het
Layn	T	C	9: 50,970,856 (GRCm39)	E229G	probably benign	Het
Lpcat3	T	A	6: 124,676,955 (GRCm39)		probably null	Het
Lrrn1	T	A	6: 107,546,169 (GRCm39)	F656I	possibly damaging	Het
Lypd1	A	G	1: 125,838,121 (GRCm39)		probably benign	Het
Or4k41	T	A	2: 111,279,602 (GRCm39)	V39E	possibly damaging	Het
Or5v1b	T	A	17: 37,841,246 (GRCm39)	I126N	probably damaging	Het
Or6c207	T	C	10: 129,104,934 (GRCm39)	D86G	probably damaging	Het
Ptprt	A	T	2: 161,653,950 (GRCm39)	L560Q	probably damaging	Het
Rbm11	T	C	16: 75,393,469 (GRCm39)	V55A	probably damaging	Het
Scn11a	C	T	9: 119,632,569 (GRCm39)	V434I	probably benign	Het
Serpinc1	A	G	1: 160,829,935 (GRCm39)	T434A	probably benign	Het
Setd2	T	C	9: 110,402,753 (GRCm39)	I1798T	probably damaging	Het
Sfswap	A	G	5: 129,590,298 (GRCm39)	Y265C	probably damaging	Het
Slc9a8	C	A	2: 167,266,050 (GRCm39)	T9K	probably benign	Het
Synpo	T	C	18: 60,736,062 (GRCm39)	D389G	probably damaging	Het
Vmn1r181	C	T	7: 23,683,909 (GRCm39)	L125F	possibly damaging	Het
Wdfy4	A	C	14: 32,745,331 (GRCm39)	H2296Q	probably benign	Het

Other mutations in Ep300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ep300	APN	15	81,525,619 (GRCm39)	missense	unknown
IGL01128:Ep300	APN	15	81,514,207 (GRCm39)	unclassified	probably benign
IGL01151:Ep300	APN	15	81,507,673 (GRCm39)	intron	probably benign
IGL01414:Ep300	APN	15	81,511,467 (GRCm39)	unclassified	probably benign
IGL01564:Ep300	APN	15	81,516,665 (GRCm39)	unclassified	probably benign
IGL01875:Ep300	APN	15	81,524,224 (GRCm39)	missense	unknown
IGL01945:Ep300	APN	15	81,500,310 (GRCm39)	unclassified	probably benign
IGL02022:Ep300	APN	15	81,495,638 (GRCm39)	unclassified	probably benign
IGL02115:Ep300	APN	15	81,533,019 (GRCm39)	missense	unknown
IGL02129:Ep300	APN	15	81,470,837 (GRCm39)	missense	unknown
IGL02145:Ep300	APN	15	81,485,367 (GRCm39)	missense	unknown
IGL02149:Ep300	APN	15	81,512,621 (GRCm39)	unclassified	probably benign
IGL02165:Ep300	APN	15	81,525,592 (GRCm39)	missense	probably benign	0.39
IGL02226:Ep300	APN	15	81,497,613 (GRCm39)	missense	unknown
IGL02610:Ep300	APN	15	81,485,723 (GRCm39)	missense	unknown
IGL02731:Ep300	APN	15	81,532,615 (GRCm39)	missense	unknown
IGL03239:Ep300	APN	15	81,525,589 (GRCm39)	missense	unknown
BB001:Ep300	UTSW	15	81,533,703 (GRCm39)	missense	unknown
BB011:Ep300	UTSW	15	81,533,703 (GRCm39)	missense	unknown
R0077:Ep300	UTSW	15	81,525,514 (GRCm39)	missense	unknown
R0145:Ep300	UTSW	15	81,500,328 (GRCm39)	critical splice donor site	probably null
R0244:Ep300	UTSW	15	81,524,329 (GRCm39)	missense	unknown
R0390:Ep300	UTSW	15	81,524,317 (GRCm39)	missense	unknown
R0534:Ep300	UTSW	15	81,485,097 (GRCm39)	splice site	probably benign
R0671:Ep300	UTSW	15	81,500,335 (GRCm39)	unclassified	probably benign
R0840:Ep300	UTSW	15	81,529,134 (GRCm39)	missense	unknown
R1166:Ep300	UTSW	15	81,514,265 (GRCm39)	unclassified	probably benign
R1737:Ep300	UTSW	15	81,510,548 (GRCm39)	missense	probably damaging	0.99
R1893:Ep300	UTSW	15	81,515,847 (GRCm39)	unclassified	probably benign
R2136:Ep300	UTSW	15	81,524,648 (GRCm39)	missense	unknown
R3427:Ep300	UTSW	15	81,485,480 (GRCm39)	missense	unknown
R3892:Ep300	UTSW	15	81,504,198 (GRCm39)	unclassified	probably benign
R4554:Ep300	UTSW	15	81,485,631 (GRCm39)	missense	unknown
R4575:Ep300	UTSW	15	81,495,611 (GRCm39)	unclassified	probably benign
R4575:Ep300	UTSW	15	81,533,210 (GRCm39)	missense	unknown
R4577:Ep300	UTSW	15	81,495,611 (GRCm39)	unclassified	probably benign
R4577:Ep300	UTSW	15	81,533,210 (GRCm39)	missense	unknown
R4578:Ep300	UTSW	15	81,495,611 (GRCm39)	unclassified	probably benign
R4578:Ep300	UTSW	15	81,533,210 (GRCm39)	missense	unknown
R5021:Ep300	UTSW	15	81,524,224 (GRCm39)	missense	unknown
R5366:Ep300	UTSW	15	81,500,301 (GRCm39)	missense	probably benign	0.24
R5372:Ep300	UTSW	15	81,521,031 (GRCm39)	missense	unknown
R5393:Ep300	UTSW	15	81,515,819 (GRCm39)	unclassified	probably benign
R5410:Ep300	UTSW	15	81,533,055 (GRCm39)	missense	unknown
R5571:Ep300	UTSW	15	81,527,418 (GRCm39)	intron	probably benign
R5701:Ep300	UTSW	15	81,485,696 (GRCm39)	missense	unknown
R5772:Ep300	UTSW	15	81,524,115 (GRCm39)	intron	probably benign
R5825:Ep300	UTSW	15	81,495,673 (GRCm39)	missense	probably benign	0.39
R5917:Ep300	UTSW	15	81,512,808 (GRCm39)	unclassified	probably benign
R5991:Ep300	UTSW	15	81,532,667 (GRCm39)	missense	unknown
R6019:Ep300	UTSW	15	81,525,583 (GRCm39)	missense	unknown
R6144:Ep300	UTSW	15	81,485,435 (GRCm39)	missense	unknown
R6291:Ep300	UTSW	15	81,532,708 (GRCm39)	missense	unknown
R6292:Ep300	UTSW	15	81,500,935 (GRCm39)	unclassified	probably benign
R6599:Ep300	UTSW	15	81,470,914 (GRCm39)	missense	unknown
R6804:Ep300	UTSW	15	81,525,512 (GRCm39)	nonsense	probably null
R6925:Ep300	UTSW	15	81,534,182 (GRCm39)	missense	probably benign	0.32
R7327:Ep300	UTSW	15	81,511,515 (GRCm39)	missense	unknown
R7378:Ep300	UTSW	15	81,534,746 (GRCm39)	missense	probably damaging	0.97
R7388:Ep300	UTSW	15	81,532,567 (GRCm39)	missense	unknown
R7419:Ep300	UTSW	15	81,532,715 (GRCm39)	missense	unknown
R7498:Ep300	UTSW	15	81,524,044 (GRCm39)	missense	unknown
R7584:Ep300	UTSW	15	81,512,627 (GRCm39)	missense	unknown
R7605:Ep300	UTSW	15	81,505,353 (GRCm39)	missense	unknown
R7619:Ep300	UTSW	15	81,492,399 (GRCm39)	missense	unknown
R7699:Ep300	UTSW	15	81,470,594 (GRCm39)	start gained	probably benign
R7763:Ep300	UTSW	15	81,470,784 (GRCm39)	start gained	probably benign
R7775:Ep300	UTSW	15	81,470,887 (GRCm39)	missense	unknown
R7778:Ep300	UTSW	15	81,470,887 (GRCm39)	missense	unknown
R7862:Ep300	UTSW	15	81,534,954 (GRCm39)	missense	probably damaging	1.00
R7924:Ep300	UTSW	15	81,533,703 (GRCm39)	missense	unknown
R8155:Ep300	UTSW	15	81,505,269 (GRCm39)	missense	unknown
R8259:Ep300	UTSW	15	81,523,218 (GRCm39)	missense	unknown
R8276:Ep300	UTSW	15	81,534,229 (GRCm39)	missense	possibly damaging	0.85
R8331:Ep300	UTSW	15	81,485,411 (GRCm39)	missense	unknown
R8554:Ep300	UTSW	15	81,523,228 (GRCm39)	missense	unknown
R9019:Ep300	UTSW	15	81,532,730 (GRCm39)	missense	unknown
R9128:Ep300	UTSW	15	81,533,946 (GRCm39)	missense	unknown
R9379:Ep300	UTSW	15	81,532,760 (GRCm39)	missense	unknown
R9380:Ep300	UTSW	15	81,500,245 (GRCm39)	missense	unknown
R9484:Ep300	UTSW	15	81,521,026 (GRCm39)	missense	unknown
R9659:Ep300	UTSW	15	81,505,273 (GRCm39)	missense	unknown
R9690:Ep300	UTSW	15	81,520,396 (GRCm39)	missense	unknown
R9721:Ep300	UTSW	15	81,492,516 (GRCm39)	missense	unknown
RF020:Ep300	UTSW	15	81,470,772 (GRCm39)	start gained	probably benign
Z1177:Ep300	UTSW	15	81,514,298 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGACCTGATGGACGGTAG -3'
(R):5'- AGTGATGCACAGGTCATAATCC -3'

Sequencing Primer
(F):5'- GACGGTAGAGATGCATTTCTCACC -3'
(R):5'- AGATGCAGGTCAACTCTGC -3'

Posted On

2015-03-18