Incidental Mutation 'IGL01906:Bst1'
ID179681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bst1
Ensembl Gene ENSMUSG00000029082
Gene Namebone marrow stromal cell antigen 1
SynonymsBp3, Bsta1, CD157, 114/A10, Ly65
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01906
Quality Score
Status
Chromosome5
Chromosomal Location43818885-43843986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43837519 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 248 (F248L)
Ref Sequence ENSEMBL: ENSMUSP00000098796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101237]
Predicted Effect probably damaging
Transcript: ENSMUST00000101237
AA Change: F248L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098796
Gene: ENSMUSG00000029082
AA Change: F248L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Rib_hydrolayse 35 273 5.9e-103 PFAM
low complexity region 277 288 N/A INTRINSIC
low complexity region 295 311 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118126
SMART Domains Protein: ENSMUSP00000113593
Gene: ENSMUSG00000029082

DomainStartEndE-ValueType
Pfam:Rib_hydrolayse 1 164 3.8e-69 PFAM
low complexity region 168 179 N/A INTRINSIC
low complexity region 186 202 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125838
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show delayed peritoneal B-1 cell development and a rise in CD38low/- B-lineage cells in bone marrow and spleen. The systemic thymus-independent-2 antigen-induced IgG3 and mucosal thymus-dependent antigen-elicited IgA responses are selectively impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Bst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Bst1 APN 5 43826336 missense probably damaging 1.00
IGL03008:Bst1 APN 5 43826262 critical splice acceptor site probably null
ossobuco UTSW 5 43820590 missense probably benign 0.04
R0145:Bst1 UTSW 5 43819072 missense probably damaging 1.00
R1158:Bst1 UTSW 5 43840492 critical splice donor site probably null
R1172:Bst1 UTSW 5 43825408 splice site probably null
R3926:Bst1 UTSW 5 43840454 missense possibly damaging 0.81
R4438:Bst1 UTSW 5 43825340 unclassified probably null
R4622:Bst1 UTSW 5 43818919 utr 5 prime probably benign
R4852:Bst1 UTSW 5 43820525 missense probably benign 0.16
R4936:Bst1 UTSW 5 43840457 missense probably damaging 0.97
R6048:Bst1 UTSW 5 43818964 intron probably benign
R6505:Bst1 UTSW 5 43820590 missense probably benign 0.04
R7442:Bst1 UTSW 5 43821742 missense probably benign 0.00
R7643:Bst1 UTSW 5 43840449 missense probably benign 0.02
Z1177:Bst1 UTSW 5 43819032 missense probably damaging 0.99
Posted On2014-05-07