Incidental Mutation 'IGL02146:Bst1'
ID 281776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bst1
Ensembl Gene ENSMUSG00000029082
Gene Name bone marrow stromal cell antigen 1
Synonyms Bsta1, CD157, Bp3, 114/A10, Ly65
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02146
Quality Score
Status
Chromosome 5
Chromosomal Location 43976235-44000810 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43983678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 221 (H221Q)
Ref Sequence ENSEMBL: ENSMUSP00000098796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101237] [ENSMUST00000114047] [ENSMUST00000126976]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101237
AA Change: H221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098796
Gene: ENSMUSG00000029082
AA Change: H221Q

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 probably benign
Transcript: ENSMUST00000114047
SMART Domains Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753

DomainStartEndE-ValueType
Pfam:Hemerythrin 19 132 4.4e-11 PFAM
FBOX 202 242 2.31e-9 SMART
low complexity region 283 304 N/A INTRINSIC
LRR 349 373 2.43e2 SMART
LRR 376 401 4.87e-4 SMART
low complexity region 475 486 N/A INTRINSIC
LRR 590 615 2.45e0 SMART
LRR 618 643 4.65e-1 SMART
Blast:LRR 644 675 2e-13 BLAST
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 probably benign
Transcript: ENSMUST00000126976
SMART Domains Protein: ENSMUSP00000143382
Gene: ENSMUSG00000029082

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
PDB:1ISM|B 28 54 2e-7 PDB
SCOP:d1isia_ 29 56 6e-12 SMART
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,023 (GRCm39) C784R possibly damaging Het
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Bag6 A G 17: 35,355,191 (GRCm39) T30A probably damaging Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Cnep1r1 T C 8: 88,856,326 (GRCm39) V34A probably benign Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Cyp20a1 A T 1: 60,410,410 (GRCm39) K237I possibly damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Tll2 C A 19: 41,086,276 (GRCm39) V651L probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T possibly damaging Het
Other mutations in Bst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01906:Bst1 APN 5 43,994,861 (GRCm39) missense probably damaging 0.98
IGL03008:Bst1 APN 5 43,983,604 (GRCm39) critical splice acceptor site probably null
ossobuco UTSW 5 43,977,932 (GRCm39) missense probably benign 0.04
R0145:Bst1 UTSW 5 43,976,414 (GRCm39) missense probably damaging 1.00
R1158:Bst1 UTSW 5 43,997,834 (GRCm39) critical splice donor site probably null
R1172:Bst1 UTSW 5 43,982,750 (GRCm39) splice site probably null
R3926:Bst1 UTSW 5 43,997,796 (GRCm39) missense possibly damaging 0.81
R4438:Bst1 UTSW 5 43,982,682 (GRCm39) splice site probably null
R4622:Bst1 UTSW 5 43,976,261 (GRCm39) utr 5 prime probably benign
R4852:Bst1 UTSW 5 43,977,867 (GRCm39) missense probably benign 0.16
R4936:Bst1 UTSW 5 43,997,799 (GRCm39) missense probably damaging 0.97
R6048:Bst1 UTSW 5 43,976,306 (GRCm39) intron probably benign
R6505:Bst1 UTSW 5 43,977,932 (GRCm39) missense probably benign 0.04
R7442:Bst1 UTSW 5 43,979,084 (GRCm39) missense probably benign 0.00
R7643:Bst1 UTSW 5 43,997,791 (GRCm39) missense probably benign 0.02
R8849:Bst1 UTSW 5 43,977,927 (GRCm39) missense possibly damaging 0.87
R8900:Bst1 UTSW 5 43,977,942 (GRCm39) missense possibly damaging 0.87
R8956:Bst1 UTSW 5 43,982,716 (GRCm39) nonsense probably null
R9010:Bst1 UTSW 5 43,982,695 (GRCm39) missense possibly damaging 0.81
Z1177:Bst1 UTSW 5 43,976,374 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16