Incidental Mutation 'IGL02034:Erv3'
ID184466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erv3
Ensembl Gene ENSMUSG00000037482
Gene Nameendogenous retroviral sequence 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02034
Quality Score
Status
Chromosome2
Chromosomal Location131853678-131859747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 131856014 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 142 (V142I)
Ref Sequence ENSEMBL: ENSMUSP00000047030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040941]
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

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,716,859 S1745P possibly damaging Het
Bcor A G X: 12,039,259 S1556P possibly damaging Het
Ccdc6 T A 10: 70,169,148 I241N probably benign Het
Cd81 T C 7: 143,066,249 I48T probably damaging Het
Cfap52 A G 11: 67,946,292 probably null Het
Cfap54 T C 10: 93,061,485 M264V probably damaging Het
Cmya5 G A 13: 93,084,535 probably benign Het
Csn2 A G 5: 87,696,082 probably benign Het
Cyfip1 G A 7: 55,898,353 R567Q probably damaging Het
Ehbp1 A G 11: 22,285,486 probably null Het
Ermp1 G A 19: 29,645,959 probably benign Het
Fzd2 A G 11: 102,604,904 N58S probably damaging Het
Gcm2 G A 13: 41,105,793 R67C probably damaging Het
Gm17019 A G 5: 15,030,252 I182T possibly damaging Het
Gpr45 T C 1: 43,033,318 *374Q probably null Het
Haus8 T C 8: 71,255,558 N165S probably damaging Het
Hoxd4 T A 2: 74,728,406 L191Q probably damaging Het
I830077J02Rik A G 3: 105,927,249 probably benign Het
Lpl T C 8: 68,880,772 L7P possibly damaging Het
Lrp1b T A 2: 41,268,370 K1612* probably null Het
Myh14 G T 7: 44,616,293 A1546D possibly damaging Het
Nbea A G 3: 55,968,156 S1698P probably damaging Het
Olfr1217 C T 2: 89,023,671 V111M probably benign Het
Olfr470 G A 7: 107,845,178 T185I probably benign Het
Olfr676 C A 7: 105,035,390 T64N probably benign Het
Olfr9 A T 10: 128,990,701 Q263L probably benign Het
Otog A T 7: 46,295,993 K40* probably null Het
Rgma C A 7: 73,417,433 H145Q probably damaging Het
Rpgrip1l A T 8: 91,251,148 probably null Het
Ssxb2 T A X: 8,458,504 probably benign Het
Tmem175 C T 5: 108,642,136 T118I probably damaging Het
Wdhd1 A G 14: 47,261,351 V542A probably benign Het
Zfp977 G A 7: 42,580,712 P130S probably damaging Het
Other mutations in Erv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Erv3 APN 2 131855957 nonsense probably null
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
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
Posted On2014-05-07