Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Ep300'

575569

Institutional Source

Beutler Lab

Gene Symbol

Ep300

Ensembl Gene

ENSMUSG00000055024

Gene Name

E1A binding protein p300

Synonyms

p300, KAT3B

MMRRC Submission

045497-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81470329-81536278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81532715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1651 (M1651K)

Ref Sequence

ENSEMBL: ENSMUSP00000066789 (fasta)

Gene Model

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

AlphaFold

B2RWS6

Predicted Effect

unknown
Transcript: ENSMUST00000068387
AA Change: M1651K

SMART Domains

Protein: ENSMUSP00000066789
Gene: ENSMUSG00000055024
AA Change: M1651K

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

Meta Mutation Damage Score

0.8236

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,226,959 (GRCm39)	S572P	probably damaging	Het
Abca13	T	C	11: 9,247,833 (GRCm39)	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,241,173 (GRCm39)	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,365 (GRCm39)	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,018,353 (GRCm39)	T117A	probably benign	Het
Asb15	A	G	6: 24,556,555 (GRCm39)	I17V	probably benign	Het
Atf2	A	G	2: 73,672,777 (GRCm39)	V194A	probably benign	Het
Capn7	T	C	14: 31,071,779 (GRCm39)	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512 (GRCm39)	S28C	probably benign	Het
Cct4	C	T	11: 22,946,420 (GRCm39)	T162I	probably benign	Het
Cdc40	A	T	10: 40,717,439 (GRCm39)	H417Q	probably damaging	Het
Celf1	A	G	2: 90,833,588 (GRCm39)	I115V	probably benign	Het
Ces3a	A	G	8: 105,783,056 (GRCm39)	Y395C	probably damaging	Het
Cfh	C	A	1: 140,033,204 (GRCm39)	C798F	probably damaging	Het
Clstn3	T	C	6: 124,435,088 (GRCm39)	T313A	probably benign	Het
Crmp1	T	A	5: 37,436,229 (GRCm39)	M329K	probably benign	Het
Csf2ra	C	T	19: 61,215,491 (GRCm39)	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,795,727 (GRCm39)	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,014,188 (GRCm39)	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,468,234 (GRCm39)	M268R	probably benign	Het
Dcaf13	T	A	15: 38,993,615 (GRCm39)	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,500,397 (GRCm39)	I56T	probably damaging	Het
Eif2d	T	A	1: 131,098,793 (GRCm39)	S530R	probably benign	Het
Epha3	G	A	16: 63,418,657 (GRCm39)	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,329,628 (GRCm39)	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,054,385 (GRCm39)	N4142K	probably damaging	Het
Galnt5	C	A	2: 57,904,937 (GRCm39)	S500Y	probably damaging	Het
Gas6	A	G	8: 13,521,456 (GRCm39)	V431A	probably benign	Het
Gm7544	C	T	1: 82,933,502 (GRCm39)	C56Y	unknown	Het
Golgb1	T	A	16: 36,733,281 (GRCm39)	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,312,025 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,070,050 (GRCm39)	T330A	probably benign	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Ifi205	A	G	1: 173,855,874 (GRCm39)	M52T	possibly damaging	Het
Ino80	A	T	2: 119,210,495 (GRCm39)	D1346E	probably benign	Het
Ino80c	T	C	18: 24,241,836 (GRCm39)	K183R	unknown	Het
Itgal	G	T	7: 126,906,047 (GRCm39)	R379L	probably benign	Het
Itih3	T	A	14: 30,636,730 (GRCm39)	T582S	probably benign	Het
Kcnb2	T	C	1: 15,781,251 (GRCm39)	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,806,011 (GRCm39)	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,948,537 (GRCm39)	D473N	probably benign	Het
Lama1	T	G	17: 68,024,169 (GRCm39)	I89R		Het
Lama2	A	G	10: 27,142,630 (GRCm39)	I616T	probably benign	Het
Lipm	A	C	19: 34,093,881 (GRCm39)	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,460,106 (GRCm39)	H244L	probably benign	Het
Lrrtm3	T	C	10: 63,923,925 (GRCm39)	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,029,192 (GRCm39)	V231A	unknown	Het
Me3	G	T	7: 89,385,927 (GRCm39)	R92L	probably damaging	Het
Mroh7	T	G	4: 106,541,115 (GRCm39)	I1175L	probably benign	Het
Muc16	A	G	9: 18,553,258 (GRCm39)	M4345T	probably benign	Het
Mug2	A	G	6: 122,017,529 (GRCm39)	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,164,454 (GRCm39)	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,422,063 (GRCm39)	Q24*	probably null	Het
Or12e14	A	T	2: 87,677,406 (GRCm39)	T264S	probably benign	Het
Or1ad6	T	A	11: 50,860,152 (GRCm39)	Y102*	probably null	Het
Or2ag2b	T	C	7: 106,417,551 (GRCm39)	L87P	possibly damaging	Het
Or4f14	G	A	2: 111,742,435 (GRCm39)	P280L	probably damaging	Het
Or4k6	A	C	14: 50,475,448 (GRCm39)	V298G	possibly damaging	Het
Or4x13	A	G	2: 90,231,803 (GRCm39)	D266G	probably damaging	Het
Or6b6	A	G	7: 106,571,353 (GRCm39)	M66T	probably benign	Het
Or7g23	A	C	9: 19,086,642 (GRCm39)	M110R	possibly damaging	Het
Or8g23	T	A	9: 38,971,465 (GRCm39)	I166L	probably benign	Het
Or8k3	C	T	2: 86,058,557 (GRCm39)	G253R	probably damaging	Het
Oser1	A	T	2: 163,253,364 (GRCm39)	D48E	probably benign	Het
Piwil4	G	A	9: 14,613,691 (GRCm39)	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,189,898 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,334,584 (GRCm39)	L15P	unknown	Het
Ppan	C	T	9: 20,803,140 (GRCm39)	T404I	probably benign	Het
Pros1	C	A	16: 62,748,433 (GRCm39)	Y635*	probably null	Het
Rabep2	G	A	7: 126,043,342 (GRCm39)	R414Q	probably benign	Het
Rbms3	T	A	9: 116,651,894 (GRCm39)	E201V	probably damaging	Het
Robo4	A	C	9: 37,314,105 (GRCm39)	I119L	probably benign	Het
S100b	A	T	10: 76,095,820 (GRCm39)	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,656,101 (GRCm39)	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,193,350 (GRCm39)		probably null	Het
Slc30a6	T	C	17: 74,730,424 (GRCm39)	V438A	probably benign	Het
Sobp	A	G	10: 42,897,804 (GRCm39)	S594P	probably benign	Het
Tcstv1b	A	G	13: 120,634,994 (GRCm39)	E92G	probably damaging	Het
Tmem45b	T	C	9: 31,339,334 (GRCm39)	D213G	probably benign	Het
Topbp1	T	A	9: 103,200,543 (GRCm39)	D525E	probably benign	Het
Trim30c	G	T	7: 104,037,472 (GRCm39)	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023 (GRCm39)	D1617V	unknown	Het
Ush1c	A	G	7: 45,878,679 (GRCm39)	L112P	probably damaging	Het
Vipr1	T	A	9: 121,490,539 (GRCm39)	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,078,354 (GRCm39)	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,307,992 (GRCm39)	Y749N	probably damaging	Het
Vps13d	A	T	4: 144,842,073 (GRCm39)	S2615R		Het
Whrn	A	G	4: 63,334,330 (GRCm39)	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,050,958 (GRCm39)	V304A	probably benign	Het
Zeb2	A	T	2: 44,886,359 (GRCm39)	N899K	probably benign	Het
Zfp148	T	C	16: 33,317,511 (GRCm39)	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,902,207 (GRCm39)	I712N	possibly damaging	Het
Zfp683	T	C	4: 133,786,211 (GRCm39)	V446A	probably benign	Het
Zranb3	A	T	1: 127,891,588 (GRCm39)	V796D	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
R1893:Ep300	UTSW	15	81,515,847 (GRCm39)	unclassified	probably benign
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
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'- CAGTGGCATTGCAGTTCGAAAG -3'
(R):5'- GGGCAGAGGTTTGTAACACATG -3'

Sequencing Primer
(F):5'- GCATTGCAGTTCGAAAGTCACAATG -3'
(R):5'- GGCAGAGGTTTGTAACACATGTTTAC -3'

Posted On

2019-10-07