Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02034:Erv3'

184466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erv3

Ensembl Gene

ENSMUSG00000037482

Gene Name

endogenous retroviral sequence 3

Synonyms

1600014E20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL02034

Quality Score

Status

Chromosome

Chromosomal Location

131695598-131701667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131697934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 142 (V142I)

Ref Sequence

ENSEMBL: ENSMUSP00000047030 (fasta)

Gene Model

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

AlphaFold

Q9DAX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040941
AA Change: V142I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047030
Gene: ENSMUSG00000037482
AA Change: V142I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcor	A	G	X: 11,905,498 (GRCm39)	S1556P	possibly damaging	Het
Brd10	A	G	19: 29,694,259 (GRCm39)	S1745P	possibly damaging	Het
Ccdc6	T	A	10: 70,004,978 (GRCm39)	I241N	probably benign	Het
Cd81	T	C	7: 142,619,986 (GRCm39)	I48T	probably damaging	Het
Cfap52	A	G	11: 67,837,118 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,897,347 (GRCm39)	M264V	probably damaging	Het
Cmya5	G	A	13: 93,221,043 (GRCm39)		probably benign	Het
Csn2	A	G	5: 87,843,941 (GRCm39)		probably benign	Het
Cyfip1	G	A	7: 55,548,101 (GRCm39)	R567Q	probably damaging	Het
Ehbp1	A	G	11: 22,235,486 (GRCm39)		probably null	Het
Ermp1	G	A	19: 29,623,359 (GRCm39)		probably benign	Het
Fzd2	A	G	11: 102,495,730 (GRCm39)	N58S	probably damaging	Het
Gcm2	G	A	13: 41,259,269 (GRCm39)	R67C	probably damaging	Het
Gm17019	A	G	5: 15,080,266 (GRCm39)	I182T	possibly damaging	Het
Gpr45	T	C	1: 43,072,478 (GRCm39)	*374Q	probably null	Het
Haus8	T	C	8: 71,708,202 (GRCm39)	N165S	probably damaging	Het
Hoxd4	T	A	2: 74,558,750 (GRCm39)	L191Q	probably damaging	Het
I830077J02Rik	A	G	3: 105,834,565 (GRCm39)		probably benign	Het
Lpl	T	C	8: 69,333,424 (GRCm39)	L7P	possibly damaging	Het
Lrp1b	T	A	2: 41,158,382 (GRCm39)	K1612*	probably null	Het
Myh14	G	T	7: 44,265,717 (GRCm39)	A1546D	possibly damaging	Het
Nbea	A	G	3: 55,875,577 (GRCm39)	S1698P	probably damaging	Het
Or10p22	A	T	10: 128,826,570 (GRCm39)	Q263L	probably benign	Het
Or4c112	C	T	2: 88,854,015 (GRCm39)	V111M	probably benign	Het
Or52e7	C	A	7: 104,684,597 (GRCm39)	T64N	probably benign	Het
Or5p51	G	A	7: 107,444,385 (GRCm39)	T185I	probably benign	Het
Otog	A	T	7: 45,945,417 (GRCm39)	K40*	probably null	Het
Rgma	C	A	7: 73,067,181 (GRCm39)	H145Q	probably damaging	Het
Rpgrip1l	A	T	8: 91,977,776 (GRCm39)		probably null	Het
Ssxb2	T	A	X: 8,324,743 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,790,002 (GRCm39)	T118I	probably damaging	Het
Wdhd1	A	G	14: 47,498,808 (GRCm39)	V542A	probably benign	Het
Zfp977	G	A	7: 42,230,136 (GRCm39)	P130S	probably damaging	Het

Other mutations in Erv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Erv3	APN	2	131,697,877 (GRCm39)	nonsense	probably null
F5770:Erv3	UTSW	2	131,697,846 (GRCm39)	missense	possibly damaging	0.66
R1518:Erv3	UTSW	2	131,698,083 (GRCm39)	missense	probably benign	0.04
R6036:Erv3	UTSW	2	131,697,925 (GRCm39)	missense	possibly damaging	0.46
R6036:Erv3	UTSW	2	131,697,925 (GRCm39)	missense	possibly damaging	0.46
R6045:Erv3	UTSW	2	131,697,942 (GRCm39)	missense	probably damaging	0.97
R6988:Erv3	UTSW	2	131,697,886 (GRCm39)	missense	possibly damaging	0.90
R8552:Erv3	UTSW	2	131,698,261 (GRCm39)	missense	possibly damaging	0.66
R8934:Erv3	UTSW	2	131,698,101 (GRCm39)	missense	probably benign
R9295:Erv3	UTSW	2	131,697,979 (GRCm39)	missense	possibly damaging	0.66
R9495:Erv3	UTSW	2	131,697,975 (GRCm39)	missense	possibly damaging	0.82
V7580:Erv3	UTSW	2	131,697,846 (GRCm39)	missense	possibly damaging	0.66
V7581:Erv3	UTSW	2	131,697,846 (GRCm39)	missense	possibly damaging	0.66
V7582:Erv3	UTSW	2	131,697,846 (GRCm39)	missense	possibly damaging	0.66
V7583:Erv3	UTSW	2	131,697,846 (GRCm39)	missense	possibly damaging	0.66

Posted On

2014-05-07