Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Epc1'

81801

Institutional Source

Beutler Lab

Gene Symbol

Epc1

Ensembl Gene

ENSMUSG00000024240

Gene Name

enhancer of polycomb homolog 1

Synonyms

A930032N02Rik, 2400007E14Rik, 5730566F07Rik

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0959 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

6435951-6516108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6453657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 223 (N223D)

Ref Sequence

ENSEMBL: ENSMUSP00000028100 (fasta)

Gene Model

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

AlphaFold

Q8C9X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028100
AA Change: N223D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: N223D

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 damaging
Transcript: ENSMUST00000115870
AA Change: N173D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: N173D

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

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	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
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
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'- TTGGGAAACCCATGATGGCCCT -3'
(R):5'- AGCACAAATGATCCTTACGTGGCTT -3'

Sequencing Primer
(F):5'- CATGATGGCCCTGTCTCG -3'
(R):5'- acacacacaaacacaaacactc -3'

Posted On

2013-11-08