Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Epc1'

344152

Institutional Source

Beutler Lab

Gene Symbol

Epc1

Ensembl Gene

ENSMUSG00000024240

Gene Name

enhancer of polycomb homolog 1

Synonyms

A930032N02Rik, 2400007E14Rik, 5730566F07Rik

MMRRC Submission

041807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6435951-6516108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6449138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 453 (N453S)

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: N503S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: N503S

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

possibly damaging
Transcript: ENSMUST00000115870
AA Change: N453S

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: N453S

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

0.0792

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	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
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
R5344:Epc1	UTSW	18	6,450,614 (GRCm39)	missense	probably benign	0.03
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'- AACGTACCACAGTGTGCTGAG -3'
(R):5'- TTTAGGGGAAAGCGTTCGGAAC -3'

Sequencing Primer
(F):5'- AGTGTGCTGAGCCACTGC -3'
(R):5'- TTCGGAACAGAAAGGAAGAAACTTTG -3'

Posted On

2015-09-24