Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Ep300'

211746

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

MMRRC Submission

039913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 81515847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: D1097E

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: D1097E

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

probably benign
Transcript: ENSMUST00000206833

Meta Mutation Damage Score

0.9471

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mdga1	A	T	17: 30,068,200 (GRCm39)	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pbx1	A	T	1: 168,030,979 (GRCm39)	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,837,398 (GRCm39)	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,259,193 (GRCm39)	V82A	probably benign	Het
Ube2o	C	T	11: 116,439,661 (GRCm39)	V170I	possibly damaging	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	possibly damaging	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
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'- TTCAATCAACTCGTGGGACG -3'
(R):5'- GACAGGTCTGAAAGATACTTCTTACC -3'

Sequencing Primer
(F):5'- CGTGGGACGACATATCAAGACAC -3'
(R):5'- TCCAAGGCTTTGCATGACAG -3'

Posted On

2014-06-30