Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Epc1'

34092

Institutional Source

Beutler Lab

Gene Symbol

Epc1

Ensembl Gene

ENSMUSG00000024240

Gene Name

enhancer of polycomb homolog 1

Synonyms

A930032N02Rik, 2400007E14Rik, 5730566F07Rik

MMRRC Submission

038473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0230 (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 6440168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 579 (D579G)

Ref Sequence

ENSEMBL: ENSMUSP00000111536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028100] [ENSMUST00000115870] [ENSMUST00000124926]

AlphaFold

Q8C9X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028100
AA Change: D629G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: D629G

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: D579G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: D579G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124926
AA Change: D33G

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

SMART Domains

Protein: ENSMUSP00000117601
Gene: ENSMUSG00000024240
AA Change: D33G

Domain	Start	End	E-Value	Type
Pfam:E_Pc_C	1	193	2.4e-81	PFAM

Meta Mutation Damage Score

0.5544

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy1	T	C	3: 113,352,079 (GRCm39)	D371G	probably benign	Het
Asrgl1	T	A	19: 9,095,883 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,585,383 (GRCm39)		probably benign	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,471,978 (GRCm39)	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,158,995 (GRCm39)	T504M	probably damaging	Het
Cdk12	T	G	11: 98,094,817 (GRCm39)	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,368,576 (GRCm39)	L81P	probably damaging	Het
Chrd	T	C	16: 20,552,025 (GRCm39)	L43P	probably benign	Het
Col6a4	A	C	9: 105,949,565 (GRCm39)	M690R	probably benign	Het
Cyp39a1	A	T	17: 44,042,903 (GRCm39)	R418W	probably damaging	Het
Dars2	C	T	1: 160,890,357 (GRCm39)	V162M	probably benign	Het
Dixdc1	C	T	9: 50,606,807 (GRCm39)	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,946,791 (GRCm39)	E1194*	probably null	Het
Dnah7b	T	C	1: 46,258,508 (GRCm39)	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,746,141 (GRCm39)	E3991K	probably damaging	Het
Dsp	A	T	13: 38,381,681 (GRCm39)	I2210F	probably benign	Het
Ebf1	A	G	11: 44,886,949 (GRCm39)	S556G	probably damaging	Het
Enam	G	A	5: 88,637,514 (GRCm39)		probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephb3	A	T	16: 21,039,525 (GRCm39)	I426F	probably damaging	Het
Fam135b	T	G	15: 71,317,886 (GRCm39)	I1359L	probably benign	Het
Fcgbpl1	T	A	7: 27,856,250 (GRCm39)	H2012Q	probably damaging	Het
Gm16519	T	C	17: 71,236,128 (GRCm39)	S26P	probably benign	Het
Gm17622	T	A	13: 96,627,594 (GRCm39)		probably null	Het
Gpat2	G	A	2: 127,277,765 (GRCm39)	V764I	possibly damaging	Het
Gpx4	G	A	10: 79,890,838 (GRCm39)	A81T	probably benign	Het
Gss	C	A	2: 155,420,326 (GRCm39)	R83L	probably damaging	Het
Hcls1	C	A	16: 36,758,216 (GRCm39)	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336 (GRCm39)	V438A	probably benign	Het
Hnf4a	T	C	2: 163,401,005 (GRCm39)	F184S	probably damaging	Het
Katnal1	T	A	5: 148,855,460 (GRCm39)	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,174,083 (GRCm39)	D30G	probably benign	Het
Kyat1	T	C	2: 30,084,087 (GRCm39)	E11G	probably benign	Het
Lefty1	T	A	1: 180,764,579 (GRCm39)	V168E	probably damaging	Het
Map2k6	C	T	11: 110,387,281 (GRCm39)	P218S	probably damaging	Het
Mlkl	C	G	8: 112,041,694 (GRCm39)	K415N	probably benign	Het
Myh7	A	T	14: 55,211,390 (GRCm39)	M1593K	probably benign	Het
Myo19	T	A	11: 84,784,159 (GRCm39)	C186S	possibly damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185 (GRCm38)	N192S	probably benign	Het
Or1j17	G	A	2: 36,578,628 (GRCm39)	V205M	probably benign	Het
Or2n1	A	G	17: 38,486,841 (GRCm39)	I289V	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8u9	T	C	2: 86,001,886 (GRCm39)	I92V	probably benign	Het
Pdcd6ip	A	G	9: 113,514,361 (GRCm39)		probably benign	Het
Pde4b	T	C	4: 102,454,707 (GRCm39)	Y186H	probably benign	Het
Pex7	A	G	10: 19,780,331 (GRCm39)	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,635,209 (GRCm39)	V1339A	probably benign	Het
Proser1	A	G	3: 53,386,383 (GRCm39)	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,674,997 (GRCm39)	D658G	probably damaging	Het
Rassf8	A	C	6: 145,765,700 (GRCm39)		probably benign	Het
Rfc4	G	A	16: 22,932,849 (GRCm39)	Q363*	probably null	Het
Rxfp1	T	C	3: 79,552,282 (GRCm39)	N673S	probably damaging	Het
Scn7a	T	C	2: 66,556,628 (GRCm39)	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,345,984 (GRCm39)		probably benign	Het
Scube2	C	T	7: 109,423,971 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,301,262 (GRCm39)	N184D	probably benign	Het
Slco1a5	T	A	6: 142,182,054 (GRCm39)		probably benign	Het
Slf1	T	A	13: 77,260,867 (GRCm39)		probably benign	Het
Smarca4	G	A	9: 21,612,168 (GRCm39)	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,250,993 (GRCm39)		probably benign	Het
Sox5	A	G	6: 144,155,064 (GRCm39)	F11L	probably benign	Het
Spag17	T	C	3: 100,014,143 (GRCm39)	S2139P	probably benign	Het
Spice1	A	T	16: 44,185,939 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,900,704 (GRCm39)		probably benign	Het
Srebf2	T	A	15: 82,066,286 (GRCm39)	N571K	probably damaging	Het
Tbl3	A	G	17: 24,920,307 (GRCm39)	L670P	probably damaging	Het
Tmem45a2	A	G	16: 56,867,359 (GRCm39)	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,826,053 (GRCm39)	N132D	possibly damaging	Het
Ttn	T	C	2: 76,567,778 (GRCm39)	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739 (GRCm39)	Y32*	probably null	Het
Ush2a	C	T	1: 188,582,301 (GRCm39)	P3788L	probably damaging	Het
Usp22	T	A	11: 61,050,023 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,197,381 (GRCm39)		probably benign	Het
Zbtb41	C	T	1: 139,374,673 (GRCm39)	T711I	probably damaging	Het
Zfp457	T	C	13: 67,442,180 (GRCm39)	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,754,150 (GRCm39)		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
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
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'- TACGTATGCACGCAGATGCCAC -3'
(R):5'- CCAGCACTGCACTACCTGAGAAATG -3'

Sequencing Primer
(F):5'- GATGCCACCCCTCACCTG -3'
(R):5'- TCAACCTTCAGACTTACGGCTATG -3'

Posted On

2013-05-09