Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:Erv3'

69398

Institutional Source

Beutler Lab

Gene Symbol

Erv3

Ensembl Gene

ENSMUSG00000037482

Gene Name

endogenous retroviral sequence 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

V7580 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131853678-131859747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131855926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 171 (H171R)

Ref Sequence

ENSEMBL: ENSMUSP00000047030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040941]

AlphaFold

Q9DAX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040941
AA Change: H171R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047030
Gene: ENSMUSG00000037482
AA Change: H171R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,886,179	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Med20	G	A	17: 47,618,832	V65M	probably damaging	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Erv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Erv3	APN	2	131855957	nonsense	probably null
IGL02034:Erv3	APN	2	131856014	missense	possibly damaging	0.46
F5770:Erv3	UTSW	2	131855926	missense	possibly damaging	0.66
R1518:Erv3	UTSW	2	131856163	missense	probably benign	0.04
R6036:Erv3	UTSW	2	131856005	missense	possibly damaging	0.46
R6036:Erv3	UTSW	2	131856005	missense	possibly damaging	0.46
R6045:Erv3	UTSW	2	131856022	missense	probably damaging	0.97
R6988:Erv3	UTSW	2	131855966	missense	possibly damaging	0.90
R8552:Erv3	UTSW	2	131856341	missense	possibly damaging	0.66
R8934:Erv3	UTSW	2	131856181	missense	probably benign
R9295:Erv3	UTSW	2	131856059	missense	possibly damaging	0.66
R9495:Erv3	UTSW	2	131856055	missense	possibly damaging	0.82
V7581:Erv3	UTSW	2	131855926	missense	possibly damaging	0.66
V7582:Erv3	UTSW	2	131855926	missense	possibly damaging	0.66
V7583:Erv3	UTSW	2	131855926	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTTCAGGACCAACGATCAGGCATAG -3'
(R):5'- TCCACACTGGGGCTGCAAATATC -3'

Sequencing Primer
(F):5'- TTAGCAACTCAAAGGCGGTC -3'
(R):5'- ATCATAGTACTTGGCCCAGATGG -3'

Posted On

2013-09-04