Incidental Mutation 'R0631:Fst'
ID 57997
Institutional Source Beutler Lab
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
MMRRC Submission 038820-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R0631 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 114452290-114458951 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114454502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000153365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect possibly damaging
Transcript: ENSMUST00000022287
AA Change: S244P

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: S244P

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 possibly damaging
Transcript: ENSMUST00000223640
AA Change: S244P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223865
Predicted Effect unknown
Transcript: ENSMUST00000225068
AA Change: S33P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225706
Predicted Effect possibly damaging
Transcript: ENSMUST00000231252
AA Change: S243P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231498
Meta Mutation Damage Score 0.1287 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.1%
  • 10x: 98.1%
  • 20x: 96.8%
Validation Efficiency 97% (129/133)
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: 131 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,529,445 (GRCm38) probably benign Het
Afap1l2 T C 19: 56,916,085 (GRCm38) E594G probably benign Het
Ak8 T G 2: 28,735,665 (GRCm38) I240S probably damaging Het
Akap13 T C 7: 75,614,996 (GRCm38) V174A probably damaging Het
Alppl2 G A 1: 87,089,373 (GRCm38) T66I probably damaging Het
Ankrd61 T A 5: 143,894,879 (GRCm38) I36F probably damaging Het
Antxrl T A 14: 34,058,801 (GRCm38) probably null Het
Arhgef2 G C 3: 88,634,436 (GRCm38) V244L probably damaging Het
Arid1a A G 4: 133,689,170 (GRCm38) I1098T unknown Het
Atr T C 9: 95,874,777 (GRCm38) V903A possibly damaging Het
B3gnt6 C A 7: 98,193,692 (GRCm38) A354S probably benign Het
Bnc1 A T 7: 81,974,366 (GRCm38) I371N probably damaging Het
Camsap1 A T 2: 25,933,647 (GRCm38) S1464T probably damaging Het
Cand2 G A 6: 115,803,805 (GRCm38) E1217K probably damaging Het
Cass4 T C 2: 172,432,411 (GRCm38) I728T probably damaging Het
Ccdc88a A T 11: 29,493,752 (GRCm38) M1378L probably damaging Het
Ccdc9 C A 7: 16,278,459 (GRCm38) W266L probably damaging Het
Cct6b C A 11: 82,737,088 (GRCm38) probably null Het
Cd177 T C 7: 24,756,686 (GRCm38) E219G probably benign Het
Cdkal1 A T 13: 29,354,684 (GRCm38) Y497* probably null Het
Chmp2a T C 7: 13,032,444 (GRCm38) E107G probably damaging Het
Chrna2 T G 14: 66,149,308 (GRCm38) V301G probably benign Het
Chrna7 A G 7: 63,099,643 (GRCm38) C364R probably benign Het
Cltc G T 11: 86,712,613 (GRCm38) L796I probably benign Het
Col12a1 T C 9: 79,703,376 (GRCm38) T249A probably damaging Het
Col13a1 G A 10: 61,887,350 (GRCm38) Q270* probably null Het
Col6a1 C T 10: 76,709,735 (GRCm38) V968M probably benign Het
Copb1 C A 7: 114,233,282 (GRCm38) V511F probably benign Het
Daw1 C G 1: 83,197,260 (GRCm38) S160R probably damaging Het
Ddx46 A G 13: 55,639,777 (GRCm38) probably benign Het
Depdc7 T C 2: 104,721,987 (GRCm38) K492E possibly damaging Het
Dmbt1 C T 7: 131,097,653 (GRCm38) A1004V possibly damaging Het
Dnah7b G A 1: 46,240,992 (GRCm38) V2694I probably benign Het
Dnhd1 T A 7: 105,651,624 (GRCm38) F63I probably benign Het
Edc4 C A 8: 105,890,792 (GRCm38) A1052E possibly damaging Het
Eif2s2 T A 2: 154,884,358 (GRCm38) K129M probably damaging Het
Emx2 A G 19: 59,464,028 (GRCm38) D248G probably damaging Het
Erich6b T C 14: 75,659,009 (GRCm38) probably benign Het
Exoc3l4 A G 12: 111,427,966 (GRCm38) K507E probably benign Het
Fanci T A 7: 79,406,205 (GRCm38) V195E probably damaging Het
Fgfr2 T G 7: 130,227,239 (GRCm38) probably benign Het
Frem1 A G 4: 82,972,165 (GRCm38) S1007P probably damaging Het
Fry T C 5: 150,496,352 (GRCm38) I993T possibly damaging Het
Gcc1 T C 6: 28,421,010 (GRCm38) T103A probably damaging Het
Gdf2 C T 14: 33,941,221 (GRCm38) P24L probably damaging Het
Gja3 T C 14: 57,036,762 (GRCm38) D51G possibly damaging Het
Gm10305 A G 4: 99,273,076 (GRCm38) D74G unknown Het
Gm12689 G T 4: 99,296,021 (GRCm38) G37V unknown Het
Gm5424 C T 10: 62,071,534 (GRCm38) noncoding transcript Het
Hephl1 T C 9: 15,084,524 (GRCm38) E434G probably benign Het
Hoatz T A 9: 51,101,953 (GRCm38) R6S probably benign Het
Htatip2 T C 7: 49,773,311 (GRCm38) C205R possibly damaging Het
Igf2r T C 17: 12,717,274 (GRCm38) probably null Het
Ints2 T C 11: 86,233,196 (GRCm38) I589V probably benign Het
Itgae T A 11: 73,114,907 (GRCm38) V299D probably damaging Het
Kcnma1 T C 14: 23,509,784 (GRCm38) probably benign Het
Kif11 A G 19: 37,413,117 (GRCm38) probably benign Het
Kif13a A G 13: 46,778,888 (GRCm38) probably benign Het
Kif18a T A 2: 109,298,322 (GRCm38) probably benign Het
Klhl29 T C 12: 5,094,883 (GRCm38) T406A probably benign Het
Litaf A T 16: 10,966,412 (GRCm38) probably benign Het
Lmntd1 T A 6: 145,430,000 (GRCm38) I71F probably benign Het
Lrit3 A C 3: 129,788,555 (GRCm38) C594W probably damaging Het
Lrp6 T A 6: 134,479,775 (GRCm38) Q842L possibly damaging Het
Lrrcc1 T A 3: 14,540,119 (GRCm38) probably benign Het
Macf1 A T 4: 123,455,524 (GRCm38) L1829* probably null Het
Mapk1ip1 T C 7: 138,835,955 (GRCm38) T249A possibly damaging Het
Mfap4 T C 11: 61,487,180 (GRCm38) F173L probably damaging Het
Mfsd9 C A 1: 40,790,474 (GRCm38) probably benign Het
Mgat4b T C 11: 50,230,763 (GRCm38) S69P probably damaging Het
Mki67 A T 7: 135,704,388 (GRCm38) V620D probably damaging Het
Moxd1 C T 10: 24,252,954 (GRCm38) T201I probably damaging Het
Msh4 G C 3: 153,866,420 (GRCm38) D774E probably benign Het
Myg1 C T 15: 102,331,849 (GRCm38) R37C probably benign Het
Myrf C A 19: 10,228,882 (GRCm38) A57S probably benign Het
Ndst1 G A 18: 60,700,359 (GRCm38) probably benign Het
Nedd4l A T 18: 65,208,503 (GRCm38) probably benign Het
Neil2 T A 14: 63,183,400 (GRCm38) I281F possibly damaging Het
Nfatc2 T A 2: 168,590,115 (GRCm38) D26V probably benign Het
Nt5c A G 11: 115,490,714 (GRCm38) probably null Het
Olfr1369-ps1 G T 13: 21,115,908 (GRCm38) C72F probably damaging Het
Or13a24 T G 7: 140,574,507 (GRCm38) M118R probably damaging Het
Or2z8 T A 8: 72,058,322 (GRCm38) I214N probably damaging Het
Or5ac20 A G 16: 59,284,207 (GRCm38) C97R possibly damaging Het
Or5t15 T C 2: 86,850,967 (GRCm38) T244A probably benign Het
Ovch2 A G 7: 107,782,021 (GRCm38) S557P probably benign Het
Pik3cg A G 12: 32,205,203 (GRCm38) S262P probably benign Het
Pla2g6 T A 15: 79,306,396 (GRCm38) H322L probably damaging Het
Plch1 A T 3: 63,699,219 (GRCm38) L1079Q probably benign Het
Plekhg4 T A 8: 105,379,302 (GRCm38) V777D probably damaging Het
Plekhg5 A G 4: 152,112,419 (GRCm38) D747G possibly damaging Het
Poln C A 5: 34,118,958 (GRCm38) V318F possibly damaging Het
Pou5f2 T A 13: 78,025,754 (GRCm38) S272T probably benign Het
Ppp1r3e T G 14: 54,876,616 (GRCm38) S200R possibly damaging Het
Prl7d1 G A 13: 27,710,182 (GRCm38) P135S probably benign Het
Ptgs2 G A 1: 150,104,537 (GRCm38) V409I probably benign Het
Ptk2b T C 14: 66,177,751 (GRCm38) T276A probably damaging Het
Ptpn3 T C 4: 57,204,921 (GRCm38) T747A probably damaging Het
Qrfpr A G 3: 36,221,989 (GRCm38) I84T probably damaging Het
Rab44 A G 17: 29,139,144 (GRCm38) D102G possibly damaging Het
Rimoc1 A G 15: 3,986,489 (GRCm38) probably benign Het
Rnf125 A T 18: 20,979,083 (GRCm38) D57V possibly damaging Het
Rnf145 T C 11: 44,560,024 (GRCm38) F392L probably damaging Het
Rttn A G 18: 88,989,546 (GRCm38) N435S probably benign Het
Scn8a A G 15: 101,035,537 (GRCm38) T1500A probably damaging Het
Sgsm1 A G 5: 113,285,123 (GRCm38) probably benign Het
Sgsm3 A T 15: 81,011,736 (GRCm38) *751C probably null Het
Slc35c2 A C 2: 165,280,929 (GRCm38) L145R probably damaging Het
Slc4a7 A T 14: 14,757,382 (GRCm38) E396V probably damaging Het
Smarca4 G C 9: 21,658,984 (GRCm38) probably benign Het
Snapc3 T A 4: 83,417,802 (GRCm38) V17D probably damaging Het
Snta1 G T 2: 154,377,072 (GRCm38) Q448K probably benign Het
Sptbn2 A G 19: 4,739,986 (GRCm38) D1334G probably benign Het
Stard5 A G 7: 83,632,757 (GRCm38) R41G probably damaging Het
Stxbp5 T A 10: 9,784,358 (GRCm38) N731I probably benign Het
Tmem135 T A 7: 89,143,788 (GRCm38) K413* probably null Het
Tmem38a G A 8: 72,580,018 (GRCm38) V114I probably benign Het
Tpr A G 1: 150,422,531 (GRCm38) T1057A probably damaging Het
Ttc23l A T 15: 10,539,980 (GRCm38) L139Q probably damaging Het
Ttn T A 2: 76,755,296 (GRCm38) probably null Het
Tuba3b A G 6: 145,619,576 (GRCm38) T257A probably damaging Het
Tubgcp6 A C 15: 89,100,987 (GRCm38) Y1633D probably damaging Het
Txnl1 C T 18: 63,671,573 (GRCm38) probably benign Het
Unc13b A G 4: 43,182,849 (GRCm38) Q3186R possibly damaging Het
Vmn2r75 T A 7: 86,163,270 (GRCm38) S514C probably null Het
Whrn G A 4: 63,419,489 (GRCm38) T545I probably damaging Het
Zdhhc20 T C 14: 57,857,640 (GRCm38) H154R probably damaging Het
Zfp462 A T 4: 55,007,563 (GRCm38) M1L possibly damaging Het
Zfp831 A G 2: 174,645,290 (GRCm38) K586R possibly damaging Het
Zfp990 A T 4: 145,537,302 (GRCm38) H290L possibly damaging Het
Zfpm1 C T 8: 122,336,874 (GRCm38) probably benign Het
Other mutations in Fst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02147:Fst APN 13 114,454,360 (GRCm38) missense probably damaging 1.00
IGL02213:Fst APN 13 114,455,854 (GRCm38) missense possibly damaging 0.51
R1391:Fst UTSW 13 114,454,279 (GRCm38) critical splice donor site probably benign
R4884:Fst UTSW 13 114,454,384 (GRCm38) missense probably damaging 1.00
R5326:Fst UTSW 13 114,455,705 (GRCm38) missense probably damaging 1.00
R5542:Fst UTSW 13 114,455,705 (GRCm38) missense probably damaging 1.00
R6700:Fst UTSW 13 114,458,507 (GRCm38) missense probably benign 0.00
R7319:Fst UTSW 13 114,458,532 (GRCm38) missense probably benign 0.09
R8281:Fst UTSW 13 114,455,241 (GRCm38) missense probably benign 0.02
R8830:Fst UTSW 13 114,455,828 (GRCm38) missense probably damaging 1.00
R8910:Fst UTSW 13 114,453,709 (GRCm38) intron probably benign
R9533:Fst UTSW 13 114,455,861 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11