Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Ep300'

77139

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81529134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1558 (N1558I)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: N1558I

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: N1558I

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

Meta Mutation Damage Score

0.1209

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	probably null	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
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
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'- GCACACAGATGGCATACATTCATCAAG -3'
(R):5'- CTGAATTTCCAGCAACCTGGAGTTTTC -3'

Sequencing Primer
(F):5'- agagagagagagagagagagagag -3'
(R):5'- CAACCTGGAGTTTTCATCATGC -3'

Posted On

2013-10-16