Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01945:Ep300'

181232

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 #

IGL01945

Quality Score

Status

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 81616109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068387] [ENSMUST00000206936]

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: T537A

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: T537A

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: T60A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190035

Predicted Effect

probably benign
Transcript: ENSMUST00000206936

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	C	11: 110,083,304 (GRCm38)		probably benign	Het
Acta2	A	G	19: 34,251,854 (GRCm38)	V45A	probably benign	Het
Adam11	G	A	11: 102,772,910 (GRCm38)	V305M	probably damaging	Het
Adcy1	A	G	11: 7,161,891 (GRCm38)	K919E	probably damaging	Het
Afap1l1	T	C	18: 61,756,863 (GRCm38)	T101A	probably benign	Het
Apbb2	T	A	5: 66,400,251 (GRCm38)	D289V	probably damaging	Het
Appl1	A	G	14: 26,928,655 (GRCm38)	V520A	possibly damaging	Het
Atp5g3	G	A	2: 73,910,969 (GRCm38)	R9C	probably benign	Het
Atp8a2	A	G	14: 60,026,160 (GRCm38)	L375P	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186 (GRCm38)		probably benign	Het
Cavin1	A	T	11: 100,970,420 (GRCm38)	F16Y	probably benign	Het
Ccdc185	C	A	1: 182,748,876 (GRCm38)	V83L	probably benign	Het
Ccdc80	T	A	16: 45,118,245 (GRCm38)	S772T	probably damaging	Het
Cntn4	T	A	6: 106,437,904 (GRCm38)	V132E	probably damaging	Het
Coa5	A	T	1: 37,429,898 (GRCm38)	C24S	probably damaging	Het
Col6a5	A	T	9: 105,928,290 (GRCm38)	V1139D	unknown	Het
Ddx46	C	A	13: 55,655,072 (GRCm38)	S469*	probably null	Het
Fcna	A	T	2: 25,627,835 (GRCm38)	M1K	probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gstm3	T	C	3: 107,967,657 (GRCm38)	E93G	probably damaging	Het
Gtse1	A	G	15: 85,871,547 (GRCm38)	T471A	probably benign	Het
Hepacam2	T	A	6: 3,487,117 (GRCm38)	Y4F	probably benign	Het
Hipk1	T	C	3: 103,744,004 (GRCm38)	I1148V	possibly damaging	Het
Il1r2	A	G	1: 40,102,453 (GRCm38)	T9A	possibly damaging	Het
Kl	A	T	5: 150,988,937 (GRCm38)	D717V	probably damaging	Het
Krt75	G	A	15: 101,570,164 (GRCm38)	T345M	possibly damaging	Het
Myo5a	T	A	9: 75,140,671 (GRCm38)	H260Q	probably damaging	Het
Nckap1l	G	A	15: 103,461,642 (GRCm38)	G156D	probably damaging	Het
Nlrp1b	T	G	11: 71,181,407 (GRCm38)	T537P	probably damaging	Het
Nudt17	A	G	3: 96,707,039 (GRCm38)	I201T	probably damaging	Het
Olfr195	T	C	16: 59,149,464 (GRCm38)	S205P	probably benign	Het
Olfr767	A	T	10: 129,079,303 (GRCm38)	I220N	probably damaging	Het
Olfr845	A	T	9: 19,339,332 (GRCm38)	S291C	probably damaging	Het
Padi6	T	C	4: 140,741,924 (GRCm38)	D35G	probably benign	Het
Plcb1	A	T	2: 135,220,791 (GRCm38)	Y107F	probably benign	Het
Plek2	T	A	12: 78,892,148 (GRCm38)	H279L	probably damaging	Het
Plk2	A	G	13: 110,399,054 (GRCm38)	D470G	possibly damaging	Het
Ranbp17	T	C	11: 33,328,520 (GRCm38)	T116A	possibly damaging	Het
Rbck1	G	A	2: 152,318,316 (GRCm38)	P481L	probably damaging	Het
Reps1	A	G	10: 18,093,836 (GRCm38)	N229S	probably benign	Het
Rngtt	T	C	4: 33,339,073 (GRCm38)	W293R	probably damaging	Het
Robo1	A	T	16: 72,962,226 (GRCm38)	I376F	probably damaging	Het
Ryr2	T	A	13: 11,790,363 (GRCm38)	I872F	probably damaging	Het
Sgip1	T	C	4: 102,966,242 (GRCm38)	Y707H	probably damaging	Het
Slc17a5	G	T	9: 78,587,932 (GRCm38)	D12E	probably benign	Het
Slco1a5	T	A	6: 142,243,989 (GRCm38)		probably null	Het
Strap	A	G	6: 137,741,335 (GRCm38)	I146V	probably benign	Het
Tcim	A	T	8: 24,438,876 (GRCm38)	H7Q	probably benign	Het
Tgfbr3	A	G	5: 107,121,358 (GRCm38)		probably null	Het
Thada	G	T	17: 84,222,766 (GRCm38)	T1725N	probably benign	Het
Trhr	T	C	15: 44,197,144 (GRCm38)	V20A	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254 (GRCm38)		noncoding transcript	Het
Wnt5a	A	G	14: 28,518,562 (GRCm38)	N223S	probably damaging	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
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
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

2014-05-07