Incidental Mutation 'R6036:Erv3'
ID486561
Institutional Source Beutler Lab
Gene Symbol Erv3
Ensembl Gene ENSMUSG00000037482
Gene Nameendogenous retroviral sequence 3
Synonyms
MMRRC Submission 043257-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R6036 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location131853678-131859747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 131856005 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 145 (H145Y)
Ref Sequence ENSEMBL: ENSMUSP00000047030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040941]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040941
AA Change: H145Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047030
Gene: ENSMUSG00000037482
AA Change: H145Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,832,858 probably benign Het
Ago1 C T 4: 126,443,228 R228H probably damaging Het
Alpk3 G A 7: 81,093,257 V941M probably benign Het
Ano4 A G 10: 88,982,265 W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 Y464H probably benign Het
Barx2 A T 9: 31,913,008 D28E probably damaging Het
Cabp5 A T 7: 13,401,335 M67L probably damaging Het
Col10a1 A G 10: 34,395,282 T417A probably benign Het
Dnah2 C T 11: 69,458,920 R2399Q probably benign Het
Ehmt2 C T 17: 34,899,091 R40* probably null Het
Eif4enif1 T C 11: 3,239,420 S227P probably damaging Het
Exoc5 T C 14: 49,014,322 T591A possibly damaging Het
F5 A T 1: 164,184,996 E493V probably damaging Het
Gm8444 G T 15: 81,843,593 probably benign Het
Gria4 T A 9: 4,537,646 I221L probably benign Het
Gtf2h3 C T 5: 124,584,297 T121I probably benign Het
Hc T C 2: 35,039,684 T249A probably benign Het
Herc2 A G 7: 56,068,053 T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 S56T probably damaging Het
Hp A G 8: 109,576,774 probably null Het
Ifna15 T G 4: 88,558,073 D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 M262L probably benign Het
Krt83 A C 15: 101,487,531 I320S possibly damaging Het
Megf10 A G 18: 57,242,727 N242D probably damaging Het
Nup155 A G 15: 8,128,411 T451A probably benign Het
Olfr1277 C T 2: 111,269,612 G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 L68P probably damaging Het
Olfr559 T A 7: 102,724,485 I2F probably benign Het
Olfr701 A T 7: 106,818,460 I126F probably damaging Het
Olfr930 A G 9: 38,930,920 I250V probably damaging Het
Pdzd8 G A 19: 59,305,209 P403S probably damaging Het
Piezo2 G A 18: 63,114,948 Q494* probably null Het
Pik3c2b T C 1: 133,090,713 F966S possibly damaging Het
Plag1 T C 4: 3,904,618 E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 S167T probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 probably benign Het
Scd4 G A 19: 44,344,792 D319N probably damaging Het
Senp2 A T 16: 22,028,558 R279* probably null Het
Sh3rf3 G A 10: 58,813,984 G137D probably benign Het
Simc1 C T 13: 54,524,621 P261S probably benign Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slc26a1 T A 5: 108,673,570 D151V probably damaging Het
Snx29 A G 16: 11,738,437 probably null Het
Stard9 C T 2: 120,700,075 A2271V probably benign Het
Stat6 A G 10: 127,655,444 N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 D362G probably benign Het
Ttll7 A G 3: 146,940,162 I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 Q87R probably damaging Het
Vmn2r-ps129 T C 17: 22,995,172 noncoding transcript Het
Wdfy4 G T 14: 33,146,990 S360R probably damaging Het
Zfp780b A G 7: 27,963,568 Y521H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CCCGAGGAATTTGGAGATGG -3'
(R):5'- ATGTGCTAGTACTATAAGCCTCACC -3'

Sequencing Primer
(F):5'- GGAGATGGAAATCTGTCTAAACCTC -3'
(R):5'- CCTGCCAAGGGAAATGTATACATG -3'
Posted On2017-08-16