Incidental Mutation 'IGL02213:Fst'
ID 284755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # IGL02213
Quality Score
Status
Chromosome 13
Chromosomal Location 114588826-114595487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114592390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 109 (N109S)
Ref Sequence ENSEMBL: ENSMUSP00000156375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect possibly damaging
Transcript: ENSMUST00000022287
AA Change: N109S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: N109S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
FOLN 94 117 2.44e-8 SMART
KAZAL 117 164 9.1e-17 SMART
FOLN 167 190 6.45e-8 SMART
KAZAL 191 239 3.73e-13 SMART
FOLN 243 267 2.09e-7 SMART
KAZAL 265 315 3.03e-13 SMART
low complexity region 320 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223640
AA Change: N109S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223865
Predicted Effect probably benign
Transcript: ENSMUST00000225068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225706
Predicted Effect possibly damaging
Transcript: ENSMUST00000231252
AA Change: N109S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231498
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,523,254 (GRCm39) R458C probably damaging Het
Aldh6a1 T A 12: 84,479,326 (GRCm39) probably benign Het
Ankrd13a C T 5: 114,924,029 (GRCm39) R42W probably damaging Het
Arhgef17 T C 7: 100,539,633 (GRCm39) M73V probably benign Het
Borcs6 A G 11: 68,950,679 (GRCm39) E19G probably benign Het
Cacna2d2 C T 9: 107,391,247 (GRCm39) R425C probably damaging Het
Cap2 T A 13: 46,789,087 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,521,902 (GRCm39) R374H probably benign Het
Cdk5rap2 A G 4: 70,235,839 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Dleu7 C T 14: 62,514,404 (GRCm39) V193M probably benign Het
Dmxl1 T A 18: 50,010,741 (GRCm39) probably benign Het
Dnah7b T A 1: 46,272,752 (GRCm39) F2293L probably damaging Het
Fgf22 G T 10: 79,592,449 (GRCm39) V75L probably damaging Het
Fras1 C A 5: 96,793,730 (GRCm39) C1017* probably null Het
Frmd3 A C 4: 74,054,109 (GRCm39) I173L probably benign Het
Greb1 A G 12: 16,756,233 (GRCm39) L801P probably damaging Het
Ift88 A G 14: 57,715,502 (GRCm39) D515G probably damaging Het
Kcnh7 T C 2: 62,569,706 (GRCm39) D730G probably damaging Het
Mbd1 A T 18: 74,408,453 (GRCm39) I231F probably damaging Het
Mre11a T A 9: 14,723,180 (GRCm39) F358I probably damaging Het
Mroh9 G T 1: 162,885,648 (GRCm39) T328K probably damaging Het
Nostrin T C 2: 69,014,262 (GRCm39) L406P probably benign Het
Ntrk3 T A 7: 78,112,679 (GRCm39) Q159L probably benign Het
Oca2 T C 7: 55,971,232 (GRCm39) probably benign Het
Or4k49 A T 2: 111,495,020 (GRCm39) T150S probably benign Het
Or51af1 T A 7: 103,141,695 (GRCm39) H130L probably benign Het
Or5p54 T C 7: 107,554,511 (GRCm39) I221T probably damaging Het
Pfdn4 C T 2: 170,357,695 (GRCm39) Q21* probably null Het
Pkd1l3 T C 8: 110,357,977 (GRCm39) F823S probably damaging Het
Rnf212 C T 5: 108,895,276 (GRCm39) probably benign Het
Sbspon T C 1: 15,929,150 (GRCm39) S214G probably benign Het
Slc12a7 T C 13: 73,945,822 (GRCm39) probably null Het
Ugt3a1 A T 15: 9,370,310 (GRCm39) M485L probably benign Het
Vav1 T C 17: 57,612,351 (GRCm39) V561A possibly damaging Het
Vldlr A G 19: 27,218,726 (GRCm39) T485A probably benign Het
Wiz T C 17: 32,586,834 (GRCm39) T159A probably benign Het
Other mutations in Fst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02147:Fst APN 13 114,590,896 (GRCm39) missense probably damaging 1.00
R0631:Fst UTSW 13 114,591,038 (GRCm39) missense possibly damaging 0.91
R1391:Fst UTSW 13 114,590,815 (GRCm39) critical splice donor site probably benign
R4884:Fst UTSW 13 114,590,920 (GRCm39) missense probably damaging 1.00
R5326:Fst UTSW 13 114,592,241 (GRCm39) missense probably damaging 1.00
R5542:Fst UTSW 13 114,592,241 (GRCm39) missense probably damaging 1.00
R6700:Fst UTSW 13 114,595,043 (GRCm39) missense probably benign 0.00
R7319:Fst UTSW 13 114,595,068 (GRCm39) missense probably benign 0.09
R8281:Fst UTSW 13 114,591,777 (GRCm39) missense probably benign 0.02
R8830:Fst UTSW 13 114,592,364 (GRCm39) missense probably damaging 1.00
R8910:Fst UTSW 13 114,590,245 (GRCm39) intron probably benign
R9533:Fst UTSW 13 114,592,397 (GRCm39) nonsense probably null
Posted On 2015-04-16