Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Erv3'

680504

Institutional Source

Beutler Lab

Gene Symbol

Erv3

Ensembl Gene

ENSMUSG00000037482

Gene Name

endogenous retroviral sequence 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131853678-131859747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131856181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 86 (H86R)

Ref Sequence

ENSEMBL: ENSMUSP00000047030 (fasta)

Gene Model

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

AlphaFold

Q9DAX3

Predicted Effect

probably benign
Transcript: ENSMUST00000040941
AA Change: H86R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047030
Gene: ENSMUSG00000037482
AA Change: H86R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,660,657	S1117L	possibly damaging	Het
Abce1	A	G	8: 79,703,032	Y87H	probably damaging	Het
Adad2	G	A	8: 119,614,796		probably benign	Het
Adamts12	A	G	15: 11,299,929	T901A	probably damaging	Het
Adamts18	T	A	8: 113,736,878	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,819,601	T1457A	probably benign	Het
Brat1	T	C	5: 140,710,249	V125A	probably benign	Het
C4b	G	A	17: 34,732,984	R1296C	possibly damaging	Het
C5ar1	A	T	7: 16,248,477	L206Q	probably damaging	Het
Cfap126	A	G	1: 171,126,121	T87A	probably benign	Het
Cnot1	A	T	8: 95,765,067	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,794,976	I120K	possibly damaging	Het
Ddx17	T	C	15: 79,536,016	E384G	possibly damaging	Het
Dnah14	T	C	1: 181,622,723	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,741,676		probably benign	Het
Eml2	G	A	7: 19,179,813	R185H	probably damaging	Het
Epdr1	T	C	13: 19,593,180	E216G	possibly damaging	Het
Fam69b	G	A	2: 26,634,854	V89M	possibly damaging	Het
Gm13119	C	T	4: 144,363,775	L462F	possibly damaging	Het
Gm5114	A	G	7: 39,411,129	W99R	probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Hfe2	T	G	3: 96,526,593	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,592,270		probably benign	Het
Ikbkb	T	C	8: 22,660,391	*758W	probably null	Het
Il1rap	T	C	16: 26,676,984	C114R	probably damaging	Het
Irf6	T	C	1: 193,162,725	I168T	probably benign	Het
Kmt2d	T	C	15: 98,861,886	I1164V	unknown	Het
Lamb3	T	C	1: 193,338,860	L915P	probably damaging	Het
Lca5	T	C	9: 83,391,856		probably benign	Het
Lhx3	C	A	2: 26,202,246	R211L	probably damaging	Het
Mettl8	T	C	2: 71,051,718		probably benign	Het
Mroh1	T	C	15: 76,450,186	S1297P	probably benign	Het
Myh14	T	A	7: 44,657,428	T232S	probably benign	Het
Nemp2	T	A	1: 52,649,709	F377L	probably damaging	Het
Obscn	A	G	11: 58,998,259		probably null	Het
Olfr1272	T	A	2: 90,282,012	T188S	probably benign	Het
Olfr615	T	C	7: 103,561,083	V202A	probably benign	Het
Pgbd5	A	C	8: 124,384,259	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,556,630	L240P	probably benign	Het
Pkhd1	A	G	1: 20,392,010		probably null	Het
Ppp2r5a	T	A	1: 191,368,638		probably benign	Het
Prss30	C	T	17: 23,973,654	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,818,986	V318M	probably damaging	Het
Rpap1	C	T	2: 119,769,249		probably null	Het
Rptn	A	G	3: 93,395,912	Q184R	probably benign	Het
Rufy1	T	A	11: 50,407,878	Q362L	probably benign	Het
Rundc1	A	G	11: 101,431,501	K274E	probably damaging	Het
Shroom3	T	A	5: 92,941,725	I778K	probably damaging	Het
Slamf6	C	T	1: 171,917,771	L22F	possibly damaging	Het
St7l	A	G	3: 104,889,318	E249G	probably damaging	Het
Tmem237	T	C	1: 59,114,179	N61S	probably benign	Het
Tyk2	T	C	9: 21,127,120		probably benign	Het
Ubtf	G	T	11: 102,314,029	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,561,980	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,703,279	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,352,794	C502S	probably damaging	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
R9295:Erv3	UTSW	2	131856059	missense	possibly damaging	0.66
R9495:Erv3	UTSW	2	131856055	missense	possibly damaging	0.82
V7580:Erv3	UTSW	2	131855926	missense	possibly damaging	0.66
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'- TCCATCTGTCATTCCAGGGG -3'
(R):5'- GGTTCTCAGGGTCCTAAACAGAC -3'

Sequencing Primer
(F):5'- CCTTAGTATGCCAATCAACCGAGTTG -3'
(R):5'- CCAGACCATCCCCTAAGGCATG -3'

Posted On

2021-08-31