Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Epc2'

527004

Institutional Source

Beutler Lab

Gene Symbol

Epc2

Ensembl Gene

ENSMUSG00000069495

Gene Name

enhancer of polycomb homolog 2

Synonyms

D2Ertd694e

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_172663.4; MGI:1278321

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49451486-49551948 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49522669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 220 (T220A)

Ref Sequence

ENSEMBL: ENSMUSP00000089758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092123]

AlphaFold

Q8C0I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000092123
AA Change: T220A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: T220A

Domain	Start	End	E-Value	Type
Pfam:EPL1	7	149	6.5e-18	PFAM
low complexity region	334	342	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC
low complexity region	553	564	N/A	INTRINSIC
Pfam:E_Pc_C	578	808	2.1e-70	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

All alleles(45) : Targeted(3) Gene trapped(42)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in Epc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Epc2	APN	2	49532197	missense	probably damaging	1.00
IGL02479:Epc2	APN	2	49532135	missense	probably benign	0.00
IGL03342:Epc2	APN	2	49536646	missense	probably benign	0.02
IGL02984:Epc2	UTSW	2	49528854	missense	probably damaging	1.00
R0014:Epc2	UTSW	2	49522525	nonsense	probably null
R0014:Epc2	UTSW	2	49522525	nonsense	probably null
R0360:Epc2	UTSW	2	49537133	missense	possibly damaging	0.81
R0364:Epc2	UTSW	2	49537133	missense	possibly damaging	0.81
R0401:Epc2	UTSW	2	49528974	missense	probably damaging	0.99
R1269:Epc2	UTSW	2	49522576	missense	probably benign	0.38
R1495:Epc2	UTSW	2	49536663	missense	probably damaging	1.00
R1573:Epc2	UTSW	2	49549972	missense	possibly damaging	0.81
R1619:Epc2	UTSW	2	49549978	missense	probably damaging	0.99
R1721:Epc2	UTSW	2	49532105	missense	probably damaging	1.00
R1847:Epc2	UTSW	2	49532089	missense	probably damaging	1.00
R1867:Epc2	UTSW	2	49532105	missense	probably damaging	1.00
R2113:Epc2	UTSW	2	49532223	missense	probably benign
R2120:Epc2	UTSW	2	49547609	splice site	probably benign
R3840:Epc2	UTSW	2	49488738	missense	probably damaging	1.00
R3841:Epc2	UTSW	2	49488738	missense	probably damaging	1.00
R4366:Epc2	UTSW	2	49547554	missense	possibly damaging	0.84
R4864:Epc2	UTSW	2	49537165	missense	probably benign
R5335:Epc2	UTSW	2	49513230	missense	probably benign	0.39
R5639:Epc2	UTSW	2	49451891	missense	possibly damaging	0.78
R5695:Epc2	UTSW	2	49547607	critical splice donor site	probably null
R6259:Epc2	UTSW	2	49488854	splice site	probably null
R6420:Epc2	UTSW	2	49451900	missense	probably damaging	0.98
R6788:Epc2	UTSW	2	49532087	missense	probably benign	0.32
R7061:Epc2	UTSW	2	49535322	missense	probably damaging	1.00
R7672:Epc2	UTSW	2	49545819	missense	possibly damaging	0.56
R8377:Epc2	UTSW	2	49522515	missense	probably damaging	0.99
R9397:Epc2	UTSW	2	49488810	missense	probably damaging	1.00
RF009:Epc2	UTSW	2	49532237	critical splice donor site	probably null
Z1176:Epc2	UTSW	2	49535300	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCAAGAAGCAAAACTGCTG -3'
(R):5'- CTCTTCCTATTGCTCTAACTGGAAG -3'

Sequencing Primer
(F):5'- CAAAACTGCTGCTAAATGAAGATG -3'
(R):5'- ACTAATTGTGATCAGACTGCTACAGC -3'

Posted On

2018-07-23