Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Epc1'

422533

Institutional Source

Beutler Lab

Gene Symbol

Epc1

Ensembl Gene

ENSMUSG00000024240

Gene Name

enhancer of polycomb homolog 1

Synonyms

A930032N02Rik, 2400007E14Rik, 5730566F07Rik

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6435951-6516108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6450614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 284 (P284L)

Ref Sequence

ENSEMBL: ENSMUSP00000111536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028100] [ENSMUST00000115870]

AlphaFold

Q8C9X6

Predicted Effect

probably benign
Transcript: ENSMUST00000028100
AA Change: P334L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: P334L

Domain	Start	End	E-Value	Type
Pfam:EPL1	7	149	7e-14	PFAM
low complexity region	161	170	N/A	INTRINSIC
low complexity region	345	361	N/A	INTRINSIC
low complexity region	455	465	N/A	INTRINSIC
low complexity region	564	577	N/A	INTRINSIC
Pfam:E_Pc_C	581	813	1.6e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115870
AA Change: P284L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: P284L

Domain	Start	End	E-Value	Type
Pfam:EPL1	1	99	1.3e-19	PFAM
low complexity region	111	120	N/A	INTRINSIC
low complexity region	295	311	N/A	INTRINSIC
low complexity region	405	415	N/A	INTRINSIC
low complexity region	514	527	N/A	INTRINSIC
Pfam:E_Pc_C	531	763	1.7e-110	PFAM

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to P10 (no time point given) and heterozygous mice exhibit impaired skeletal muscle differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	probably damaging	Het

Other mutations in Epc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Epc1	APN	18	6,450,515 (GRCm39)	missense	probably damaging	1.00
IGL00930:Epc1	APN	18	6,449,196 (GRCm39)	missense	probably benign
IGL01637:Epc1	APN	18	6,439,724 (GRCm39)	missense	probably benign	0.22
IGL01929:Epc1	APN	18	6,449,217 (GRCm39)	missense	possibly damaging	0.94
IGL01993:Epc1	APN	18	6,449,136 (GRCm39)	missense	possibly damaging	0.83
IGL02234:Epc1	APN	18	6,439,938 (GRCm39)	missense	probably damaging	1.00
IGL02262:Epc1	APN	18	6,437,278 (GRCm39)	missense	probably damaging	1.00
IGL02746:Epc1	APN	18	6,454,317 (GRCm39)	missense	probably benign	0.09
PIT4131001:Epc1	UTSW	18	6,449,246 (GRCm39)	missense	probably damaging	1.00
R0101:Epc1	UTSW	18	6,462,998 (GRCm39)	splice site	probably benign
R0230:Epc1	UTSW	18	6,440,168 (GRCm39)	missense	probably damaging	1.00
R0310:Epc1	UTSW	18	6,440,202 (GRCm39)	splice site	probably benign
R0959:Epc1	UTSW	18	6,453,657 (GRCm39)	missense	probably damaging	1.00
R1172:Epc1	UTSW	18	6,490,525 (GRCm39)	missense	probably damaging	0.99
R1445:Epc1	UTSW	18	6,452,360 (GRCm39)	missense	probably damaging	1.00
R1576:Epc1	UTSW	18	6,452,366 (GRCm39)	missense	possibly damaging	0.49
R1640:Epc1	UTSW	18	6,441,175 (GRCm39)	nonsense	probably null
R2128:Epc1	UTSW	18	6,462,954 (GRCm39)	missense	probably damaging	1.00
R3763:Epc1	UTSW	18	6,440,091 (GRCm39)	missense	possibly damaging	0.81
R3883:Epc1	UTSW	18	6,452,258 (GRCm39)	missense	possibly damaging	0.67
R4184:Epc1	UTSW	18	6,453,578 (GRCm39)	missense	possibly damaging	0.65
R4258:Epc1	UTSW	18	6,450,130 (GRCm39)	missense	probably benign	0.21
R4585:Epc1	UTSW	18	6,441,157 (GRCm39)	nonsense	probably null
R4586:Epc1	UTSW	18	6,449,138 (GRCm39)	missense	possibly damaging	0.88
R4894:Epc1	UTSW	18	6,449,011 (GRCm39)	missense	probably benign
R5305:Epc1	UTSW	18	6,490,690 (GRCm39)	intron	probably benign
R5314:Epc1	UTSW	18	6,462,969 (GRCm39)	missense	probably damaging	1.00
R5335:Epc1	UTSW	18	6,490,689 (GRCm39)	intron	probably benign
R5620:Epc1	UTSW	18	6,448,917 (GRCm39)	missense	probably benign	0.01
R7567:Epc1	UTSW	18	6,450,084 (GRCm39)	missense	probably damaging	1.00
R8129:Epc1	UTSW	18	6,439,634 (GRCm39)	missense	possibly damaging	0.81
R9148:Epc1	UTSW	18	6,453,266 (GRCm39)	intron	probably benign
R9266:Epc1	UTSW	18	6,449,219 (GRCm39)	missense	probably benign	0.00
R9704:Epc1	UTSW	18	6,440,130 (GRCm39)	missense	probably damaging	1.00
R9781:Epc1	UTSW	18	6,455,187 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAGAGGTCAAAATGCAGTTC -3'
(R):5'- TGAACCTCTGAGGGTAGGAG -3'

Sequencing Primer
(F):5'- GGTCAAAATGCAGTTCCTACG -3'
(R):5'- CTCTGAGGGTAGGAGGGGCTAC -3'

Posted On

2016-08-04