Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Epc1'

377524

Institutional Source

Beutler Lab

Gene Symbol

Epc1

Ensembl Gene

ENSMUSG00000024240

Gene Name

enhancer of polycomb homolog 1

Synonyms

2400007E14Rik, A930032N02Rik, 5730566F07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6435951-6516108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6449011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 495 (S495R)

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: S545R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: S545R

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: S495R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: S495R

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,299,084	Y176*	probably null	Het
Akap13	T	A	7: 75,725,320	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,635,332	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,758,116		probably null	Het
Cacna1e	G	T	1: 154,488,805	S341*	probably null	Het
Camk1d	G	A	2: 5,354,728	S161L	probably damaging	Het
Cdh23	G	T	10: 60,337,851	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629	I1276N	probably damaging	Het
Clca1	A	G	3: 145,013,901	V436A	probably damaging	Het
Ctcfl	G	A	2: 173,117,403	P177S	probably benign	Het
Dab2ip	A	G	2: 35,730,527		probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Espl1	A	G	15: 102,322,323		probably null	Het
Eya4	T	C	10: 23,109,854	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,588,549	T554R	probably benign	Het
Fbxo18	A	T	2: 11,762,960	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,618,902	C1023R	probably damaging	Het
Gm14139	T	A	2: 150,191,979	C104*	probably null	Het
Helz2	G	C	2: 181,236,147	P953A	probably benign	Het
Ifi204	G	T	1: 173,760,242	S117Y	probably damaging	Het
Igfn1	G	A	1: 135,954,782	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,498,067	T1101A	probably benign	Het
Ipo13	A	C	4: 117,903,441	I614S	probably damaging	Het
Ipo13	A	G	4: 117,904,490	I476T	possibly damaging	Het
Kdm2b	C	A	5: 122,940,967	E308*	probably null	Het
Klhl20	A	T	1: 161,109,532	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,053,188	F64L	probably benign	Het
Ldlrad3	C	T	2: 102,057,948	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,912,531	T161A	probably benign	Het
Lrriq1	A	T	10: 103,161,752	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,325,402	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,541,118	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877	S651A	probably damaging	Het
Olfr1214	T	C	2: 88,987,439	I254M	possibly damaging	Het
Olfr1337	A	T	4: 118,782,286	C100S	probably damaging	Het
Olfr1361	T	C	13: 21,659,182	N47S	probably damaging	Het
Rag2	T	C	2: 101,629,677	S111P	probably damaging	Het
Rai1	T	A	11: 60,186,746	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,143,103	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,192,804	S205L	probably damaging	Het
Rec8	T	C	14: 55,625,330	L582P	probably damaging	Het
Retn	G	A	8: 3,657,358	R106H	probably damaging	Het
Rnf112	A	G	11: 61,452,662	L116P	probably damaging	Het
Rnf213	T	C	11: 119,481,240	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,582,344	I399M	probably benign	Het
Sez6	G	T	11: 77,975,260	G738V	probably damaging	Het
Spata17	A	G	1: 187,140,446	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,701,728	V862D	probably damaging	Het
Sptb	A	G	12: 76,624,994		probably null	Het
Srpk2	C	A	5: 23,545,529	G59W	probably damaging	Het
Ttc30a1	T	C	2: 75,979,744	*665W	probably null	Het
Tyro3	T	C	2: 119,802,298	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,610,360	S108P	probably damaging	Het
Usp2	C	T	9: 44,075,828	S141L	probably benign	Het
Vamp5	T	C	6: 72,370,198	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,926,325	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,547,408	S490N	probably benign	Het
Vps39	A	T	2: 120,352,959	I10N	probably damaging	Het
Vwf	C	T	6: 125,645,934	Q1755*	probably null	Het
Wdfy4	A	T	14: 33,155,760	H82Q	probably benign	Het
Wdr24	T	C	17: 25,826,127	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,210,561	T852A	probably benign	Het
Zfp1	T	A	8: 111,669,723	C92*	probably null	Het
Zfp426	A	T	9: 20,475,073		probably benign	Het
Zfp442	C	T	2: 150,411,210		probably null	Het
Zfp74	T	C	7: 29,936,045		probably benign	Het

Other mutations in Epc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Epc1	APN	18	6450515	missense	probably damaging	1.00
IGL00930:Epc1	APN	18	6449196	missense	probably benign
IGL01637:Epc1	APN	18	6439724	missense	probably benign	0.22
IGL01929:Epc1	APN	18	6449217	missense	possibly damaging	0.94
IGL01993:Epc1	APN	18	6449136	missense	possibly damaging	0.83
IGL02234:Epc1	APN	18	6439938	missense	probably damaging	1.00
IGL02262:Epc1	APN	18	6437278	missense	probably damaging	1.00
IGL02746:Epc1	APN	18	6454317	missense	probably benign	0.09
PIT4131001:Epc1	UTSW	18	6449246	missense	probably damaging	1.00
R0101:Epc1	UTSW	18	6462998	splice site	probably benign
R0230:Epc1	UTSW	18	6440168	missense	probably damaging	1.00
R0310:Epc1	UTSW	18	6440202	splice site	probably benign
R0959:Epc1	UTSW	18	6453657	missense	probably damaging	1.00
R1172:Epc1	UTSW	18	6490525	missense	probably damaging	0.99
R1445:Epc1	UTSW	18	6452360	missense	probably damaging	1.00
R1576:Epc1	UTSW	18	6452366	missense	possibly damaging	0.49
R1640:Epc1	UTSW	18	6441175	nonsense	probably null
R2128:Epc1	UTSW	18	6462954	missense	probably damaging	1.00
R3763:Epc1	UTSW	18	6440091	missense	possibly damaging	0.81
R3883:Epc1	UTSW	18	6452258	missense	possibly damaging	0.67
R4184:Epc1	UTSW	18	6453578	missense	possibly damaging	0.65
R4258:Epc1	UTSW	18	6450130	missense	probably benign	0.21
R4585:Epc1	UTSW	18	6441157	nonsense	probably null
R4586:Epc1	UTSW	18	6449138	missense	possibly damaging	0.88
R5305:Epc1	UTSW	18	6490690	intron	probably benign
R5314:Epc1	UTSW	18	6462969	missense	probably damaging	1.00
R5335:Epc1	UTSW	18	6490689	intron	probably benign
R5344:Epc1	UTSW	18	6450614	missense	probably benign	0.03
R5620:Epc1	UTSW	18	6448917	missense	probably benign	0.01
R7567:Epc1	UTSW	18	6450084	missense	probably damaging	1.00
R8129:Epc1	UTSW	18	6439634	missense	possibly damaging	0.81
R9148:Epc1	UTSW	18	6453266	intron	probably benign
R9266:Epc1	UTSW	18	6449219	missense	probably benign	0.00
R9704:Epc1	UTSW	18	6440130	missense	probably damaging	1.00
R9781:Epc1	UTSW	18	6455187	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCAACAAGATGGAAGGC -3'
(R):5'- AGAGCGCATTCAGACTATGAC -3'

Sequencing Primer
(F):5'- ACAAGATGGAAGGCCCCGC -3'
(R):5'- ACCACCTGGATTTGGACATG -3'

Posted On

2016-03-17