Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Ep300'

429376

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

KAT3B, p300

MMRRC Submission

042944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81585351-81652077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81616100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 57 (L57M)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: L534M

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: L534M

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

probably benign
Transcript: ENSMUST00000185967
AA Change: L57M

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190035

Predicted Effect

probably benign
Transcript: ENSMUST00000206936

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,242,288	M657K	possibly damaging	Het
4932431P20Rik	A	C	7: 29,533,539		noncoding transcript	Het
Abcb5	T	C	12: 118,867,930	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,402,817	C158Y	probably benign	Het
Ahnak	T	A	19: 9,016,735	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,592,841	C322*	probably null	Het
Ano1	T	A	7: 144,654,209	T113S	possibly damaging	Het
Apeh	A	T	9: 108,091,806	S321T	probably benign	Het
Atg4d	T	A	9: 21,268,652	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,274,318	D489G	probably damaging	Het
Cd47	T	C	16: 49,896,373	F256L	probably damaging	Het
Cd84	A	T	1: 171,873,305	D211V	probably damaging	Het
Cfap46	A	G	7: 139,650,886	L942P	probably damaging	Het
Cfh	A	C	1: 140,136,235	C434W	probably damaging	Het
Chst2	T	C	9: 95,405,465	D276G	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Degs1	C	A	1: 182,279,362	D111Y	probably benign	Het
Dhps	T	A	8: 85,074,784	D313E	probably damaging	Het
Dock9	A	G	14: 121,578,203	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,904,734	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,779,533	T189N	probably benign	Het
Exoc6b	T	A	6: 84,890,531	I300L	probably benign	Het
Fam69c	T	A	18: 84,730,595	L106Q	probably damaging	Het
Fzd8	T	C	18: 9,213,880	S321P	probably damaging	Het
Gm9920	T	A	15: 55,112,309		probably benign	Het
Gucy2c	A	G	6: 136,720,741	I668T	probably damaging	Het
Irgc1	C	T	7: 24,433,426		probably benign	Het
Jsrp1	G	T	10: 80,810,196	S143*	probably null	Het
Kctd4	T	C	14: 75,962,819	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,283,150	I351N	probably damaging	Het
Klra17	C	T	6: 129,874,895	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,390,729	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,321,914	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,391,455	S94T	probably benign	Het
Muc5ac	A	G	7: 141,807,550	T1533A	probably benign	Het
Myh10	A	T	11: 68,760,692	D287V	probably damaging	Het
Obscn	T	C	11: 59,080,260	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,668,412	T356S	probably benign	Het
Olfr1313	T	C	2: 112,072,478	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,341,828	N108I	probably damaging	Het
Pbx4	A	T	8: 69,870,170	T309S	probably benign	Het
Phyhip	C	A	14: 70,466,855	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,395,754	E254G	probably damaging	Het
Pxdn	C	A	12: 30,002,900	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,291,683	T111A	probably benign	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Sgsm1	C	A	5: 113,251,039	E722D	possibly damaging	Het
Soat1	A	T	1: 156,444,611	D101E	probably benign	Het
Spag5	T	A	11: 78,320,326		probably null	Het
Spata31	A	T	13: 64,920,459	E140D	probably damaging	Het
Srrm2	T	A	17: 23,818,704	S1537T	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tbc1d4	G	T	14: 101,607,976	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,500,305		probably benign	Het
Tmem43	T	C	6: 91,478,258	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,282,134	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,315,190		noncoding transcript	Het
Trim44	A	G	2: 102,400,131	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,282,345	D22G	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,804,831	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,880,741	K206N	probably benign	Het
Usp17lb	G	T	7: 104,840,408	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,245,114	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,055,819	M131K	possibly damaging	Het
Zfp827	A	T	8: 79,185,704	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,212,790	M821T	probably benign	Het

Other mutations in Ep300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ep300	APN	15	81641418	missense	unknown
IGL01128:Ep300	APN	15	81630006	unclassified	probably benign
IGL01151:Ep300	APN	15	81623472	intron	probably benign
IGL01414:Ep300	APN	15	81627266	unclassified	probably benign
IGL01564:Ep300	APN	15	81632464	unclassified	probably benign
IGL01875:Ep300	APN	15	81640023	missense	unknown
IGL01945:Ep300	APN	15	81616109	unclassified	probably benign
IGL02022:Ep300	APN	15	81611437	unclassified	probably benign
IGL02115:Ep300	APN	15	81648818	missense	unknown
IGL02129:Ep300	APN	15	81586636	missense	unknown
IGL02145:Ep300	APN	15	81601166	missense	unknown
IGL02149:Ep300	APN	15	81628420	unclassified	probably benign
IGL02165:Ep300	APN	15	81641391	missense	probably benign	0.39
IGL02226:Ep300	APN	15	81613412	missense	unknown
IGL02610:Ep300	APN	15	81601522	missense	unknown
IGL02731:Ep300	APN	15	81648414	missense	unknown
IGL03239:Ep300	APN	15	81641388	missense	unknown
BB001:Ep300	UTSW	15	81649502	missense	unknown
BB011:Ep300	UTSW	15	81649502	missense	unknown
R0077:Ep300	UTSW	15	81641313	missense	unknown
R0145:Ep300	UTSW	15	81616127	critical splice donor site	probably null
R0244:Ep300	UTSW	15	81640128	missense	unknown
R0390:Ep300	UTSW	15	81640116	missense	unknown
R0534:Ep300	UTSW	15	81600896	splice site	probably benign
R0671:Ep300	UTSW	15	81616134	unclassified	probably benign
R0840:Ep300	UTSW	15	81644933	missense	unknown
R1166:Ep300	UTSW	15	81630064	unclassified	probably benign
R1737:Ep300	UTSW	15	81626347	missense	probably damaging	0.99
R1893:Ep300	UTSW	15	81631646	unclassified	probably benign
R2136:Ep300	UTSW	15	81640447	missense	unknown
R3427:Ep300	UTSW	15	81601279	missense	unknown
R3757:Ep300	UTSW	15	81648589	missense	unknown
R3892:Ep300	UTSW	15	81619997	unclassified	probably benign
R4554:Ep300	UTSW	15	81601430	missense	unknown
R4575:Ep300	UTSW	15	81649009	missense	unknown
R4575:Ep300	UTSW	15	81611410	unclassified	probably benign
R4577:Ep300	UTSW	15	81611410	unclassified	probably benign
R4577:Ep300	UTSW	15	81649009	missense	unknown
R4578:Ep300	UTSW	15	81649009	missense	unknown
R4578:Ep300	UTSW	15	81611410	unclassified	probably benign
R5021:Ep300	UTSW	15	81640023	missense	unknown
R5372:Ep300	UTSW	15	81636830	missense	unknown
R5393:Ep300	UTSW	15	81631618	unclassified	probably benign
R5410:Ep300	UTSW	15	81648854	missense	unknown
R5571:Ep300	UTSW	15	81643217	intron	probably benign
R5701:Ep300	UTSW	15	81601495	missense	unknown
R5772:Ep300	UTSW	15	81639914	intron	probably benign
R5825:Ep300	UTSW	15	81611472	missense	probably benign	0.39
R5917:Ep300	UTSW	15	81628607	unclassified	probably benign
R5991:Ep300	UTSW	15	81648466	missense	unknown
R6019:Ep300	UTSW	15	81641382	missense	unknown
R6144:Ep300	UTSW	15	81601234	missense	unknown
R6291:Ep300	UTSW	15	81648507	missense	unknown
R6292:Ep300	UTSW	15	81616734	unclassified	probably benign
R6599:Ep300	UTSW	15	81586713	missense	unknown
R6804:Ep300	UTSW	15	81641311	nonsense	probably null
R6925:Ep300	UTSW	15	81649981	missense	probably benign	0.32
R7327:Ep300	UTSW	15	81627314	missense	unknown
R7378:Ep300	UTSW	15	81650545	missense	probably damaging	0.97
R7388:Ep300	UTSW	15	81648366	missense	unknown
R7419:Ep300	UTSW	15	81648514	missense	unknown
R7498:Ep300	UTSW	15	81639843	missense	unknown
R7584:Ep300	UTSW	15	81628426	missense	unknown
R7605:Ep300	UTSW	15	81621152	missense	unknown
R7619:Ep300	UTSW	15	81608198	missense	unknown
R7699:Ep300	UTSW	15	81586393	start gained	probably benign
R7763:Ep300	UTSW	15	81586583	start gained	probably benign
R7775:Ep300	UTSW	15	81586686	missense	unknown
R7778:Ep300	UTSW	15	81586686	missense	unknown
R7862:Ep300	UTSW	15	81650753	missense	probably damaging	1.00
R7924:Ep300	UTSW	15	81649502	missense	unknown
R8155:Ep300	UTSW	15	81621068	missense	unknown
R8259:Ep300	UTSW	15	81639017	missense	unknown
R8276:Ep300	UTSW	15	81650028	missense	possibly damaging	0.85
R8331:Ep300	UTSW	15	81601210	missense	unknown
R8554:Ep300	UTSW	15	81639027	missense	unknown
R9019:Ep300	UTSW	15	81648529	missense	unknown
R9128:Ep300	UTSW	15	81649745	missense	unknown
R9379:Ep300	UTSW	15	81648559	missense	unknown
R9380:Ep300	UTSW	15	81616044	missense	unknown
R9484:Ep300	UTSW	15	81636825	missense	unknown
R9659:Ep300	UTSW	15	81621072	missense	unknown
R9690:Ep300	UTSW	15	81636195	missense	unknown
R9721:Ep300	UTSW	15	81608315	missense	unknown
RF020:Ep300	UTSW	15	81586571	start gained	probably benign
Z1177:Ep300	UTSW	15	81630097	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGTCTGTGTTTTCCTATTTCACTT -3'
(R):5'- GTCTGTGACTCACATGTCAAGTA -3'

Sequencing Primer
(F):5'- CCAATGAGGTCTGGAGATCATTCC -3'
(R):5'- ACTCACATGTCAAGTATATATGTGTG -3'

Posted On

2016-09-06