Mutagenetix > Incidental Mutation

Incidental Mutation 'R7591:Epop'

587409

Institutional Source

Beutler Lab

Gene Symbol

Epop

Ensembl Gene

ENSMUSG00000043439

Gene Name

elongin BC and polycomb repressive complex 2 associated protein

Synonyms

E13, E130012A19Rik

MMRRC Submission

045638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97518215-97520528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97519158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 317 (V317E)

Ref Sequence

ENSEMBL: ENSMUSP00000051211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052281]

AlphaFold

Q7TNS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052281
AA Change: V317E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051211
Gene: ENSMUSG00000043439
AA Change: V317E

Domain	Start	End	E-Value	Type
internal_repeat_1	6	31	5.48e-5	PROSPERO
low complexity region	38	49	N/A	INTRINSIC
low complexity region	115	125	N/A	INTRINSIC
internal_repeat_1	136	163	5.48e-5	PROSPERO
low complexity region	166	192	N/A	INTRINSIC
low complexity region	200	233	N/A	INTRINSIC
Pfam:DUF4584	292	361	1.7e-23	PFAM

Meta Mutation Damage Score

0.1201

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccne2	T	C	4: 11,201,393 (GRCm39)	I307T	probably benign	Het
Chrm3	A	T	13: 9,927,349 (GRCm39)	C562*	probably null	Het
Cldn11	A	T	3: 31,204,436 (GRCm39)	E46D	probably benign	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,060,522 (GRCm39)	T233A	probably damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnttip2	T	A	3: 122,070,117 (GRCm39)	L444*	probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	T	C	15: 75,991,797 (GRCm39)	T1695A	possibly damaging	Het
Fam149a	T	A	8: 45,803,472 (GRCm39)	I421F	possibly damaging	Het
Impa2	T	C	18: 67,451,480 (GRCm39)	L258P	probably damaging	Het
Itga1	G	A	13: 115,119,315 (GRCm39)	R855W	probably damaging	Het
Kcnh5	T	C	12: 75,054,541 (GRCm39)	T468A	probably benign	Het
Kif11	A	G	19: 37,372,711 (GRCm39)	K33R	probably damaging	Het
Lamb1	C	A	12: 31,376,647 (GRCm39)	A1657E	probably damaging	Het
Macc1	T	C	12: 119,410,393 (GRCm39)	V387A	probably damaging	Het
Nalcn	T	C	14: 123,561,297 (GRCm39)	T734A	probably benign	Het
Nphp3	T	C	9: 103,895,477 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,627,903 (GRCm39)	I461M	probably damaging	Het
Or14p1	T	C	13: 65,292,462 (GRCm39)	F130L	probably benign	Het
Or4p7	G	A	2: 88,222,220 (GRCm39)	V210M	probably benign	Het
Or4s2	A	C	2: 88,473,811 (GRCm39)	K233N	probably damaging	Het
Or5b112	A	G	19: 13,319,619 (GRCm39)	S166G	probably benign	Het
Pigo	T	C	4: 43,025,093 (GRCm39)	N2S	probably benign	Het
Plcl1	A	T	1: 55,736,608 (GRCm39)	I650L	probably benign	Het
Ppcdc	A	T	9: 57,342,262 (GRCm39)	V20D	probably damaging	Het
Pramel27	A	T	4: 143,577,481 (GRCm39)	I88L	probably benign	Het
Rhobtb2	A	G	14: 70,037,190 (GRCm39)	V78A	possibly damaging	Het
Rp1l1	T	C	14: 64,263,558 (GRCm39)	V226A	probably damaging	Het
Scrt1	C	A	15: 76,403,694 (GRCm39)	G99C	probably damaging	Het
Skint9	A	T	4: 112,248,147 (GRCm39)	I199N	probably damaging	Het
Slc5a4a	T	C	10: 75,983,501 (GRCm39)		probably benign	Het
Smad3	C	T	9: 63,561,999 (GRCm39)	W326*	probably null	Het
Spata18	A	T	5: 73,829,759 (GRCm39)	I305F		Het
Spata31h1	C	A	10: 82,128,046 (GRCm39)	V1655F	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syne3	A	G	12: 104,906,863 (GRCm39)		probably null	Het
Trim69	G	A	2: 121,998,454 (GRCm39)	R142Q	probably benign	Het
Vmn1r40	A	T	6: 89,691,755 (GRCm39)	I191F	probably benign	Het
Vmn2r16	T	A	5: 109,510,223 (GRCm39)	D535E	probably damaging	Het
Vwa5b2	A	G	16: 20,420,317 (GRCm39)	E742G	probably damaging	Het
Zfp442	A	T	2: 150,250,092 (GRCm39)	Y603*	probably null	Het
Zp1	T	C	19: 10,896,835 (GRCm39)	N68S	probably damaging	Het

Other mutations in Epop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Epop	APN	11	97,519,027 (GRCm39)	missense	probably benign	0.44
R0018:Epop	UTSW	11	97,519,017 (GRCm39)	missense	probably benign	0.00
R1991:Epop	UTSW	11	97,519,480 (GRCm39)	missense	probably benign
R2103:Epop	UTSW	11	97,519,480 (GRCm39)	missense	probably benign
R2520:Epop	UTSW	11	97,519,554 (GRCm39)	missense	probably benign	0.40
R4691:Epop	UTSW	11	97,519,719 (GRCm39)	missense	possibly damaging	0.55
R4926:Epop	UTSW	11	97,519,143 (GRCm39)	missense	probably damaging	1.00
R6364:Epop	UTSW	11	97,519,513 (GRCm39)	missense	probably benign	0.40
R6459:Epop	UTSW	11	97,519,333 (GRCm39)	missense	possibly damaging	0.93
R8471:Epop	UTSW	11	97,520,073 (GRCm39)	missense	possibly damaging	0.85
X0067:Epop	UTSW	11	97,519,812 (GRCm39)	missense	probably damaging	0.99
Z1176:Epop	UTSW	11	97,519,236 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTCCGACGCTCATAGTTCTTC -3'
(R):5'- ATTTCAACCGCCTGATCCG -3'

Sequencing Primer
(F):5'- CCAAGTTGACCCACCAGGATTTG -3'
(R):5'- GACACTCCAAGTTTGCGC -3'

Posted On

2019-10-24