|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably essential (E-score: 0.851)|
|Stock #||R8281 (G1)|
|Chromosomal Location||114452290-114458951 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 114455241 bp|
|Amino Acid Change||Serine to Proline at position 201 (S201P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022287 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022287]|
|Predicted Effect||probably benign
AA Change: S201P
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: S201P
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
FUNCTION: The protein encoded by this gene binds to and negatively regulates activin, as well as other members of the transforming growth factor beta family, and acts to prevent uncontrolled cellular proliferation. This protein also contains a heparin-binding sequence. It is expressed in many of the tissues in which activin is synthesized and is thought to clear activin from the circulation by attachment to the cell surface. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms, including FST315 and FST288, that differ at their C-terminus. Another isoform, FST303 is thought to be produced by proteolytic cleavage of FST315. These isoforms differ in their localization and in their ability to bind heparin. While FST315 is a circulating protein, FST288 is tissue-bound, and FST303 is gonad-specific. While deletion of all isoforms results in embryonic lethality, expression of just FST288 is sufficient for embryonic development, but the resultant mice have fertility defects. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice show retarded growth, reduced diaphragm and intercostal muscle mass that lead to neonatal respiratory failure, shiny tight skin, defects of the hard palate and thirteenth ribs, and abnormal whiskers and teeth. Some conditional mutations produce female reproductive defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fst||
(F):5'- GACAGTGGCTTTTCAGGAGG -3'
(R):5'- CCAGAAGATGCCGTTTGAAATG -3'
(F):5'- TGGTTAGCCCCCACACTATTAAATC -3'
(R):5'- CAGAAGATGCCGTTTGAAATGTCATC -3'