Incidental Mutation 'IGL01906:Bst1'
ID |
179681 |
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: 0.056)
|
Stock # |
IGL01906
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
43976235-44000810 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43994861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 248
(F248L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101237]
|
AlphaFold |
no structure available at present |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
Adam1b |
A |
T |
5: 121,639,538 (GRCm39) |
N502K |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,847,984 (GRCm39) |
V625E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
Copb2 |
A |
T |
9: 98,462,383 (GRCm39) |
E456V |
probably benign |
Het |
Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
Faim2 |
G |
A |
15: 99,412,314 (GRCm39) |
T140I |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,278,591 (GRCm39) |
M82T |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bst1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02146:Bst1
|
APN |
5 |
43,983,678 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |