Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Bst1'

483378

Institutional Source

Beutler Lab

Gene Symbol

Bst1

Ensembl Gene

ENSMUSG00000029082

Gene Name

bone marrow stromal cell antigen 1

Synonyms

Bsta1, CD157, Bp3, 114/A10, Ly65

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43976235-44000810 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 43976306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101237] [ENSMUST00000114047] [ENSMUST00000126976]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000101237
AA Change: W13L

SMART Domains

Protein: ENSMUSP00000098796
Gene: ENSMUSG00000029082
AA Change: W13L

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

probably benign
Transcript: ENSMUST00000114047

SMART Domains

Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753

Domain	Start	End	E-Value	Type
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

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

unknown
Transcript: ENSMUST00000126976
AA Change: W13L

SMART Domains

Protein: ENSMUSP00000143382
Gene: ENSMUSG00000029082
AA Change: W13L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
PDB:1ISM\|B	28	54	2e-7	PDB
SCOP:d1isia_	29	56	6e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

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 CD38^low/- 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	T	C	9: 71,169,049 (GRCm39)	I177T	probably damaging	Het
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Cln6	T	C	9: 62,751,908 (GRCm39)	L44P	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,627,966 (GRCm39)	D191Y	probably damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or3a1	A	T	11: 74,225,961 (GRCm39)	I32K	probably benign	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,276,765 (GRCm39)	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	probably benign	Het

Other mutations in Bst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Bst1	APN	5	43,994,861 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTGTCGTAATGGAAGAGGAAAG -3'
(R):5'- ACATCACCTGCATGGAGTCC -3'

Sequencing Primer
(F):5'- GAGGATGGGAGGTGGGCTG -3'
(R):5'- TGCATGGAGTCCCGCTAGTC -3'

Posted On

2017-07-14