Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02226:Ep300'

285356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02226

Quality Score

Status

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81613412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 510 (M510L)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: M510L

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M510L

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

unknown
Transcript: ENSMUST00000185967
AA Change: M33L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190035

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	C	X: 89,931,912 (GRCm38)	D226E	probably damaging	Het
Akap6	T	C	12: 53,010,467 (GRCm38)		probably benign	Het
Ankrd11	G	A	8: 122,892,245 (GRCm38)	R1602W	probably damaging	Het
Arhgap23	G	T	11: 97,451,600 (GRCm38)	R236L	probably benign	Het
Aurkaip1	T	C	4: 155,832,571 (GRCm38)	V92A	probably benign	Het
Cdh20	A	T	1: 104,954,091 (GRCm38)		probably benign	Het
Ctnnd2	A	G	15: 30,847,336 (GRCm38)	N691S	probably benign	Het
Ddx24	A	C	12: 103,424,458 (GRCm38)	D2E	possibly damaging	Het
Dennd5b	A	G	6: 149,033,301 (GRCm38)	S691P	probably benign	Het
Dhrs3	C	T	4: 144,923,949 (GRCm38)	R248W	possibly damaging	Het
Dlgap1	T	C	17: 70,516,034 (GRCm38)	S5P	probably damaging	Het
Fbxo25	T	C	8: 13,923,922 (GRCm38)		probably benign	Het
Gm3252	A	T	14: 4,743,741 (GRCm38)	K193M	possibly damaging	Het
Gtf3c1	T	C	7: 125,667,990 (GRCm38)		probably null	Het
Helz2	T	C	2: 181,231,690 (GRCm38)	D2337G	probably damaging	Het
Idh1	A	T	1: 65,161,922 (GRCm38)	M290K	probably damaging	Het
Layn	T	C	9: 51,074,017 (GRCm38)	S80G	probably damaging	Het
Ltbp4	C	T	7: 27,306,934 (GRCm38)	E1440K	probably damaging	Het
Mri1	T	C	8: 84,256,295 (GRCm38)	T166A	probably damaging	Het
Myod1	C	T	7: 46,378,306 (GRCm38)	T290I	probably benign	Het
Nfat5	T	A	8: 107,351,522 (GRCm38)	L431*	probably null	Het
Nle1	A	T	11: 82,904,307 (GRCm38)	Y299*	probably null	Het
Nlrp4c	T	A	7: 6,066,829 (GRCm38)	F576L	possibly damaging	Het
Nudt21	G	T	8: 94,019,701 (GRCm38)	S123*	probably null	Het
Plekhg1	A	C	10: 3,945,916 (GRCm38)	D436A	probably damaging	Het
Plxna2	T	C	1: 194,644,424 (GRCm38)	V222A	probably damaging	Het
Rbm14	A	G	19: 4,801,717 (GRCm38)		probably benign	Het
Scfd1	T	A	12: 51,389,381 (GRCm38)		probably benign	Het
Slc34a2	A	G	5: 53,067,731 (GRCm38)	T405A	probably benign	Het
Slc39a9	T	A	12: 80,644,921 (GRCm38)	M14K	probably damaging	Het
Slc39a9	G	A	12: 80,644,922 (GRCm38)	M14I	probably damaging	Het
Spast	G	A	17: 74,372,339 (GRCm38)		probably benign	Het
Spen	T	C	4: 141,478,146 (GRCm38)	R1057G	unknown	Het
Sptbn4	T	G	7: 27,365,707 (GRCm38)	T2056P	probably damaging	Het
Ssrp1	T	C	2: 85,040,361 (GRCm38)	L148P	probably damaging	Het
Tdrd6	T	A	17: 43,627,202 (GRCm38)	H985L	probably damaging	Het
Tmem44	A	G	16: 30,539,381 (GRCm38)		probably benign	Het
Vmn2r116	T	A	17: 23,384,834 (GRCm38)	L11Q	probably null	Het
Wdr78	A	T	4: 103,090,398 (GRCm38)	I227K	probably benign	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
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
R0840:Ep300	UTSW	15	81,644,933 (GRCm38)	missense	unknown
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

Posted On

2015-04-16