Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Epc2'

325731

Institutional Source

Beutler Lab

Gene Symbol

Epc2

Ensembl Gene

ENSMUSG00000069495

Gene Name

enhancer of polycomb homolog 2

Synonyms

D2Ertd694e

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49341498-49441954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49437566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 657 (K657E)

Ref Sequence

ENSEMBL: ENSMUSP00000089758 (fasta)

Gene Model

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

AlphaFold

Q8C0I4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092123
AA Change: K657E

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: K657E

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

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,752,860 (GRCm39)	T396P	probably damaging	Het
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Ephx4	A	G	5: 107,551,679 (GRCm39)		probably benign	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Tmem200b	A	G	4: 131,649,781 (GRCm39)	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	probably damaging	Het

Other mutations in Epc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Epc2	APN	2	49,422,209 (GRCm39)	missense	probably damaging	1.00
IGL02479:Epc2	APN	2	49,422,147 (GRCm39)	missense	probably benign	0.00
IGL03342:Epc2	APN	2	49,426,658 (GRCm39)	missense	probably benign	0.02
IGL02984:Epc2	UTSW	2	49,418,866 (GRCm39)	missense	probably damaging	1.00
R0014:Epc2	UTSW	2	49,412,537 (GRCm39)	nonsense	probably null
R0014:Epc2	UTSW	2	49,412,537 (GRCm39)	nonsense	probably null
R0360:Epc2	UTSW	2	49,427,145 (GRCm39)	missense	possibly damaging	0.81
R0364:Epc2	UTSW	2	49,427,145 (GRCm39)	missense	possibly damaging	0.81
R0401:Epc2	UTSW	2	49,418,986 (GRCm39)	missense	probably damaging	0.99
R1269:Epc2	UTSW	2	49,412,588 (GRCm39)	missense	probably benign	0.38
R1495:Epc2	UTSW	2	49,426,675 (GRCm39)	missense	probably damaging	1.00
R1573:Epc2	UTSW	2	49,439,984 (GRCm39)	missense	possibly damaging	0.81
R1619:Epc2	UTSW	2	49,439,990 (GRCm39)	missense	probably damaging	0.99
R1721:Epc2	UTSW	2	49,422,117 (GRCm39)	missense	probably damaging	1.00
R1847:Epc2	UTSW	2	49,422,101 (GRCm39)	missense	probably damaging	1.00
R1867:Epc2	UTSW	2	49,422,117 (GRCm39)	missense	probably damaging	1.00
R2113:Epc2	UTSW	2	49,422,235 (GRCm39)	missense	probably benign
R2120:Epc2	UTSW	2	49,437,621 (GRCm39)	splice site	probably benign
R3840:Epc2	UTSW	2	49,378,750 (GRCm39)	missense	probably damaging	1.00
R3841:Epc2	UTSW	2	49,378,750 (GRCm39)	missense	probably damaging	1.00
R4864:Epc2	UTSW	2	49,427,177 (GRCm39)	missense	probably benign
R5335:Epc2	UTSW	2	49,403,242 (GRCm39)	missense	probably benign	0.39
R5639:Epc2	UTSW	2	49,341,903 (GRCm39)	missense	possibly damaging	0.78
R5695:Epc2	UTSW	2	49,437,619 (GRCm39)	critical splice donor site	probably null
R6259:Epc2	UTSW	2	49,378,866 (GRCm39)	splice site	probably null
R6420:Epc2	UTSW	2	49,341,912 (GRCm39)	missense	probably damaging	0.98
R6667:Epc2	UTSW	2	49,412,681 (GRCm39)	missense	probably damaging	0.99
R6788:Epc2	UTSW	2	49,422,099 (GRCm39)	missense	probably benign	0.32
R7061:Epc2	UTSW	2	49,425,334 (GRCm39)	missense	probably damaging	1.00
R7672:Epc2	UTSW	2	49,435,831 (GRCm39)	missense	possibly damaging	0.56
R8377:Epc2	UTSW	2	49,412,527 (GRCm39)	missense	probably damaging	0.99
R9397:Epc2	UTSW	2	49,378,822 (GRCm39)	missense	probably damaging	1.00
RF009:Epc2	UTSW	2	49,422,249 (GRCm39)	critical splice donor site	probably null
Z1176:Epc2	UTSW	2	49,425,312 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAATATCCTTTTGAGTGCC -3'
(R):5'- GTCCAAGGCATTCTGAACAGC -3'

Sequencing Primer
(F):5'- AGGCACTTGCTGCTAAGTCTAAC -3'
(R):5'- GGCATTCTGAACAGCACTGTATAC -3'

Posted On

2015-07-06