Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Ep300'

533501

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

044917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6804 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 81641311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1445 (Y1445*)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

probably null
Transcript: ENSMUST00000068387
AA Change: Y1445*

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: Y1445*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,869,047 (GRCm38)	T110A	possibly damaging	Het
Aox2	A	T	1: 58,304,598 (GRCm38)	Q480L	probably benign	Het
Arid4b	T	A	13: 14,129,207 (GRCm38)	D72E	probably benign	Het
Avil	C	T	10: 127,008,306 (GRCm38)	Q245*	probably null	Het
BC048679	T	C	7: 81,496,864 (GRCm38)	S2G	possibly damaging	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Cacna1d	T	C	14: 30,051,665 (GRCm38)	T1723A	probably benign	Het
Chil3	A	T	3: 106,164,179 (GRCm38)	Y56*	probably null	Het
Clec2i	A	G	6: 128,895,421 (GRCm38)	E172G	probably damaging	Het
Crybg1	C	T	10: 43,966,341 (GRCm38)	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,037,246 (GRCm38)	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 104,149,026 (GRCm38)	S2019A	possibly damaging	Het
Gne	A	G	4: 44,060,210 (GRCm38)	I61T	probably damaging	Het
Ifit3b	A	T	19: 34,611,547 (GRCm38)	Q41L	possibly damaging	Het
Llgl2	A	G	11: 115,843,315 (GRCm38)		probably null	Het
Maats1	T	C	16: 38,332,242 (GRCm38)	D202G	probably damaging	Het
Mast3	T	C	8: 70,786,732 (GRCm38)	I417V	probably benign	Het
Mettl21e	T	A	1: 44,218,135 (GRCm38)	I8F	probably benign	Het
Ms4a2	A	G	19: 11,617,535 (GRCm38)	Y183H	probably damaging	Het
Naip6	C	G	13: 100,299,167 (GRCm38)	E949D	probably benign	Het
Nbea	T	C	3: 56,087,453 (GRCm38)	T181A	probably benign	Het
Nrg1	T	C	8: 31,821,264 (GRCm38)	R476G	probably damaging	Het
Olfm3	A	T	3: 115,122,679 (GRCm38)	Y400F	probably benign	Het
Olfr102	A	G	17: 37,314,130 (GRCm38)	S85P	probably damaging	Het
Olfr1391	A	G	11: 49,327,981 (GRCm38)	D190G	probably benign	Het
Olfr393	A	G	11: 73,847,414 (GRCm38)	V237A	probably benign	Het
Olfr447	A	T	6: 42,911,918 (GRCm38)	T132S	probably benign	Het
Pappa2	T	C	1: 158,936,868 (GRCm38)	S358G	probably benign	Het
Pde4dip	C	A	3: 97,793,248 (GRCm38)	E259*	probably null	Het
Phlpp2	T	A	8: 109,928,565 (GRCm38)	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,499,809 (GRCm38)	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Saal1	GGCTTGCACGCCGT	G	7: 46,699,640 (GRCm38)		probably null	Het
Sec31a	C	T	5: 100,382,812 (GRCm38)	V701I	probably benign	Het
Smarca2	A	T	19: 26,751,886 (GRCm38)	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,953,630 (GRCm38)	C537*	probably null	Het
Syt14	T	C	1: 192,901,853 (GRCm38)	E701G	probably damaging	Het
Taf3	T	C	2: 9,918,217 (GRCm38)	Y32C	possibly damaging	Het
Tfeb	T	C	17: 47,789,810 (GRCm38)		probably null	Het
Ttc13	C	A	8: 124,699,687 (GRCm38)	R168L	probably damaging	Het
Vmn2r11	T	A	5: 109,053,484 (GRCm38)	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,865 (GRCm38)	K367R	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
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
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'- TGAGAACTGTTAGTGCATCTGC -3'
(R):5'- ACACCCAGCCTTTCTAAATTTG -3'

Sequencing Primer
(F):5'- GAGAGTAAACATTTGTGTCCTTGTC -3'
(R):5'- TGTACCATTCTTGCAGGC -3'

Posted On

2018-09-12