|Institutional Source||Beutler Lab|
|Gene Name||sclerostin domain containing 1|
|Synonyms||ectodin, Wise, Sostl, USAG-1|
|Is this an essential gene?||Possibly essential (E-score: 0.526)|
|Stock #||R6752 (G1)|
|Chromosomal Location||36314139-36318452 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 36314412 bp|
|Amino Acid Change||Valine to Alanine at position 40 (V40A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040230 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041407]|
|Predicted Effect||probably benign
AA Change: V40A
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V40A
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause variable defects in many aspects of tooth development, including tooth number, size and cusp pattern. Observed phenotypes may include cranial and palatal defects, neonatal death, altered trigeminal ganglion morphology, and resistance to cisplatin-induced renal injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sostdc1||
(F):5'- CTTGGGAAGGGATTCCACAGTC -3'
(R):5'- TGCAAAAGCGTAGATGGTTCAC -3'
(F):5'- AGGGATTCCACAGTCCACAGTG -3'
(R):5'- GTGCTACTGAAATGCCTG -3'