Mutagenetix > Incidental Mutation

Incidental Mutation 'R5571:Ep300'

435691

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

MMRRC Submission

044395-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 81527418 bp (GRCm39)

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: ENSMUST00000187776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206431

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	T	3: 59,784,640 (GRCm39)	H371L	probably damaging	Het
Atad5	T	C	11: 80,002,382 (GRCm39)	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,155,783 (GRCm39)	H97R	probably damaging	Het
Bax	A	G	7: 45,111,315 (GRCm39)	S184P	probably damaging	Het
Bsph1	T	G	7: 13,184,840 (GRCm39)	M1R	probably null	Het
Cbln2	A	G	18: 86,731,273 (GRCm39)	D27G	probably benign	Het
Cntnap3	G	A	13: 65,051,572 (GRCm39)	A28V	probably damaging	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Dhrs3	T	G	4: 144,620,134 (GRCm39)	I17S	probably benign	Het
Epb41	T	C	4: 131,664,717 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,064,423 (GRCm39)	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,232,156 (GRCm39)	K80N	probably damaging	Het
Fbxw24	T	C	9: 109,436,066 (GRCm39)	E322G	probably benign	Het
Fcgbpl1	A	G	7: 27,855,994 (GRCm39)	D1927G	probably damaging	Het
Fndc7	T	C	3: 108,763,724 (GRCm39)	I639V	possibly damaging	Het
Folh1	T	C	7: 86,383,328 (GRCm39)	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,850,131 (GRCm39)	M292L	probably benign	Het
Gapvd1	A	G	2: 34,605,265 (GRCm39)	S41P	probably damaging	Het
Gmds	A	T	13: 32,101,704 (GRCm39)		probably null	Het
Gp6	G	T	7: 4,371,899 (GRCm39)	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,803,171 (GRCm39)	M8K	probably benign	Het
Itpripl2	C	T	7: 118,089,092 (GRCm39)	R489Q	probably damaging	Het
Kmo	T	C	1: 175,474,760 (GRCm39)	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,684,988 (GRCm39)	G63S	unknown	Het
Lrp1b	T	C	2: 41,298,354 (GRCm39)	Q155R	probably damaging	Het
Mdm1	T	C	10: 117,995,588 (GRCm39)	S541P	possibly damaging	Het
Neto2	C	T	8: 86,367,173 (GRCm39)	D524N	probably damaging	Het
Oga	T	C	19: 45,765,445 (GRCm39)	T121A	probably benign	Het
Or1j10	A	G	2: 36,267,129 (GRCm39)	T114A	probably benign	Het
Or2ak6	T	A	11: 58,592,877 (GRCm39)	F117I	probably damaging	Het
Or5bw2	T	C	7: 6,573,824 (GRCm39)	I278T	possibly damaging	Het
Or5h17	A	T	16: 58,820,569 (GRCm39)	I174L	probably benign	Het
Ppp4r1	C	T	17: 66,110,856 (GRCm39)	Q21*	probably null	Het
Ryr2	T	A	13: 11,570,334 (GRCm39)	T4930S	possibly damaging	Het
Scart2	T	A	7: 139,829,036 (GRCm39)	C232S	probably damaging	Het
Siae	G	A	9: 37,528,219 (GRCm39)	G64D	probably benign	Het
Slc14a2	T	C	18: 78,252,282 (GRCm39)	M10V	possibly damaging	Het
Ssrp1	C	G	2: 84,874,669 (GRCm39)	D496E	probably damaging	Het
Steap2	A	G	5: 5,725,912 (GRCm39)	S371P	probably damaging	Het
Taf6l	G	A	19: 8,761,294 (GRCm39)	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,039,555 (GRCm39)	Q118R	probably damaging	Het
Tln2	C	T	9: 67,241,602 (GRCm39)	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,348,872 (GRCm39)	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,392,071 (GRCm39)	W131R	probably null	Het
Ube2d2a	A	G	18: 35,903,531 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,954,480 (GRCm39)	Y1043H	probably benign	Het
Usp34	T	A	11: 23,407,975 (GRCm39)	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,539,168 (GRCm39)	Y218C	probably damaging	Het
Vmn2r8	T	C	5: 108,950,106 (GRCm39)	Y247C	probably damaging	Het
Wdr59	A	T	8: 112,192,463 (GRCm39)	N699K	probably damaging	Het
Zcchc2	T	C	1: 105,951,402 (GRCm39)	V579A	probably benign	Het
Zfhx3	A	T	8: 109,682,623 (GRCm39)	Q3354L	unknown	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
R3757:Ep300	UTSW	15	81,532,790 (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
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'- GCTACTGAAGATCGATTAACAAGTG -3'
(R):5'- TGCCTGTAGTAGCTATAATTTGGCC -3'

Sequencing Primer
(F):5'- GTGCAAAGGAACTACCCTACTTTG -3'
(R):5'- CTACTTAGAAATACAGAGCCTCTTCG -3'

Posted On

2016-10-24