Incidental Mutation 'IGL01407:Bst2'
ID 79832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bst2
Ensembl Gene ENSMUSG00000046718
Gene Name bone marrow stromal cell antigen 2
Synonyms C87040, GREG, Bst-2, 2310015I10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01407
Quality Score
Status
Chromosome 8
Chromosomal Location 71986899-71990100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71989830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 81 (R81L)
Ref Sequence ENSEMBL: ENSMUSP00000051921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051672]
AlphaFold Q8R2Q8
PDB Structure Crystal Structure of Mouse BST-2/Tetherin Ectodomain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000051672
AA Change: R81L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051921
Gene: ENSMUSG00000046718
AA Change: R81L

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Pfam:BST2 54 144 1.9e-37 PFAM
low complexity region 148 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212386
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to the LP-BM5 strain of Mo-MLV (murine AIDS). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,076,288 (GRCm39) D1140V probably damaging Het
Ak1 G T 2: 32,523,507 (GRCm39) probably benign Het
Ano1 A T 7: 144,190,848 (GRCm39) L411H probably benign Het
Atad2 A T 15: 57,967,921 (GRCm39) N569K probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Chrna5 C T 9: 54,911,683 (GRCm39) T57M possibly damaging Het
Cp A T 3: 20,031,369 (GRCm39) D602V possibly damaging Het
Drd2 T C 9: 49,312,115 (GRCm39) I156T probably damaging Het
Elp4 G A 2: 105,622,653 (GRCm39) R349W probably damaging Het
Eml6 G A 11: 29,705,021 (GRCm39) R1508* probably null Het
Etl4 T C 2: 20,748,667 (GRCm39) L335S probably damaging Het
Fat3 A T 9: 16,289,319 (GRCm39) I68K probably benign Het
Fyco1 G T 9: 123,657,944 (GRCm39) A744D probably damaging Het
Gm22165 G T 3: 64,012,886 (GRCm39) probably benign Het
Gse1 T C 8: 121,280,326 (GRCm39) M1T probably null Het
Hs3st5 A T 10: 36,709,404 (GRCm39) H313L probably damaging Het
Hsd17b3 T C 13: 64,210,719 (GRCm39) Y212C probably damaging Het
Hyal5 G T 6: 24,876,406 (GRCm39) S93I probably benign Het
Itgb1 T C 8: 129,449,315 (GRCm39) V578A probably benign Het
Klf12 A T 14: 100,347,294 (GRCm39) N12K possibly damaging Het
Krt40 C T 11: 99,432,045 (GRCm39) C222Y probably damaging Het
Lrrn2 T C 1: 132,864,965 (GRCm39) L10P probably damaging Het
Lrsam1 T C 2: 32,837,915 (GRCm39) Y213C probably damaging Het
Mitf C A 6: 97,994,892 (GRCm39) T277K possibly damaging Het
Ncan C T 8: 70,554,607 (GRCm39) R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 (GRCm39) E578G probably benign Het
Patj A G 4: 98,301,287 (GRCm39) T191A possibly damaging Het
Pign A G 1: 105,517,027 (GRCm39) V533A probably benign Het
Smad5 G A 13: 56,883,630 (GRCm39) V339I probably benign Het
Spem2 T A 11: 69,708,065 (GRCm39) Y300F possibly damaging Het
Trank1 T G 9: 111,193,790 (GRCm39) S605A probably damaging Het
Treml4 T A 17: 48,571,877 (GRCm39) D93E possibly damaging Het
Tsc22d2 T A 3: 58,323,924 (GRCm39) V272E probably damaging Het
Vmn2r19 T A 6: 123,306,826 (GRCm39) F445I possibly damaging Het
Zfp712 T A 13: 67,190,230 (GRCm39) Q99L possibly damaging Het
Zfp719 A T 7: 43,233,611 (GRCm39) K10I probably benign Het
Other mutations in Bst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0158:Bst2 UTSW 8 71,989,861 (GRCm39) missense possibly damaging 0.95
R6383:Bst2 UTSW 8 71,989,932 (GRCm39) missense possibly damaging 0.95
R6868:Bst2 UTSW 8 71,987,404 (GRCm39) missense unknown
R7109:Bst2 UTSW 8 71,989,926 (GRCm39) missense possibly damaging 0.93
R7322:Bst2 UTSW 8 71,989,851 (GRCm39) missense probably damaging 0.99
R8109:Bst2 UTSW 8 71,989,990 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-05