|Institutional Source||Beutler Lab|
|Gene Name||matrix extracellular phosphoglycoprotein with ASARM motif (bone)|
|Is this an essential gene?||Probably non essential (E-score: 0.052)|
|Stock #||R2027 (G1)|
|Chromosomal Location||104325329-104338611 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104327091 bp|
|Amino Acid Change||Serine to Proline at position 13 (S13P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065200 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066207]|
|Predicted Effect||possibly damaging
AA Change: S13P
PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: S13P
|Meta Mutation Damage Score||0.0596|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mepe||
(F):5'- GATTAACCCTGACTATGAACTGTGC -3'
(R):5'- TGGTTTTCTCAAAGACTCTGAAAGG -3'
(F):5'- CCTGACTATGAACTGTGCAAAGTAC -3'
(R):5'- GGAGAGCATAGCACTATCCTATG -3'