Incidental Mutation 'V7580:Erv3'
ID69398
Institutional Source Beutler Lab
Gene Symbol Erv3
Ensembl Gene ENSMUSG00000037482
Gene Nameendogenous retroviral sequence 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #V7580 () of strain stinger
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location131853678-131859747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 131855926 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 171 (H171R)
Ref Sequence ENSEMBL: ENSMUSP00000047030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040941]
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

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Meta Mutation Damage Score 0.0516 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2013-09-04