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

KAT3B, p300

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

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81644933 bp (GRCm38)

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: 71,158,883 (GRCm38)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688 (GRCm38)	T234A	probably benign	Het
Acot5	G	A	12: 84,075,840 (GRCm38)	W399*	probably null	Het
Adra1a	A	G	14: 66,727,710 (GRCm38)	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063 (GRCm38)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685 (GRCm38)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949 (GRCm38)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330 (GRCm38)	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315 (GRCm38)	D948E	probably benign	Het
Cfap92	G	T	6: 87,680,278 (GRCm38)		noncoding transcript	Het
Clcn3	C	A	8: 60,929,154 (GRCm38)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910 (GRCm38)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485 (GRCm38)	N79K	probably benign	Het
Fblim1	A	G	4: 141,581,009 (GRCm38)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148 (GRCm38)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181 (GRCm38)		probably benign	Het
Foxl2	A	T	9: 98,955,931 (GRCm38)	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113 (GRCm38)	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095 (GRCm38)	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481 (GRCm38)	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684 (GRCm38)	M1K	probably null	Het
Krt32	G	A	11: 100,081,242 (GRCm38)	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158 (GRCm38)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157 (GRCm38)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112 (GRCm38)	H895Q	probably benign	Het
Nrros	T	C	16: 32,143,423 (GRCm38)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,331,793 (GRCm38)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,055,572 (GRCm38)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,565,616 (GRCm38)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701 (GRCm38)		probably null	Het
Pgap2	A	T	7: 102,237,448 (GRCm38)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072 (GRCm38)	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312 (GRCm38)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521 (GRCm38)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544 (GRCm38)	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200 (GRCm38)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284 (GRCm38)		probably benign	Het
Prpf39	T	G	12: 65,048,206 (GRCm38)	N219K	probably benign	Het
Rnf17	T	A	14: 56,475,447 (GRCm38)	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436 (GRCm38)		probably benign	Het
Stx1a	T	A	5: 135,041,234 (GRCm38)		probably benign	Het
Tenm3	C	A	8: 48,335,742 (GRCm38)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771 (GRCm38)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049 (GRCm38)	S36F	probably damaging	Het
Trim5	A	T	7: 104,265,771 (GRCm38)	W364R	probably damaging	Het
Ttn	T	C	2: 76,786,811 (GRCm38)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321 (GRCm38)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,803,457 (GRCm38)	S145T	possibly damaging	Het
Zfp882	T	A	8: 71,914,686 (GRCm38)	C452*	probably null	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
R0534:Ep300	UTSW	15	81,600,896 (GRCm38)	splice site	probably benign
R0671:Ep300	UTSW	15	81,616,134 (GRCm38)	unclassified	probably benign
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	81,611,410 (GRCm38)	unclassified	probably benign
R4577:Ep300	UTSW	15	81,649,009 (GRCm38)	missense	unknown
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'- GCACACAGATGGCATACATTCATCAAG -3'
(R):5'- CTGAATTTCCAGCAACCTGGAGTTTTC -3'

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

Posted On

2013-10-16