|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.127)|
|Stock #||R1873 (G1)|
|Chromosomal Location||101962458-101967015 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101964243 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 80 (E80G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001534 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001534]|
|Predicted Effect||probably damaging
AA Change: E80G
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E80G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.184|
|Coding Region Coverage||
|Validation Efficiency||98% (82/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase in trabecular and cortical bone volume, mineral density, and formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sost||
(F):5'- AAGTCCTTGAGCTCCGACTG -3'
(R):5'- TCCAGTGTTTCATCCCTGGG -3'
(F):5'- CTCCGACTGGTTGTGGAAGC -3'
(R):5'- TCATCCCTGGGTTCCAAGG -3'