Incidental Mutation 'R6700:Fst'
ID 528233
Institutional Source Beutler Lab
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
Synonyms
MMRRC Submission 044818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 114588826-114595487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 114595043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 27 (A27G)
Ref Sequence ENSEMBL: ENSMUSP00000156375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect probably benign
Transcript: ENSMUST00000022287
AA Change: A27G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: A27G

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: A27G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223865
Predicted Effect probably benign
Transcript: ENSMUST00000225068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225706
Predicted Effect probably benign
Transcript: ENSMUST00000231252
AA Change: A27G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231498
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging Het
Other mutations in Fst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02147:Fst APN 13 114,590,896 (GRCm39) missense probably damaging 1.00
IGL02213:Fst APN 13 114,592,390 (GRCm39) missense possibly damaging 0.51
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
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
Predicted Primers PCR Primer
(F):5'- ATCCTAAAGTGTCACTGCCTTCAG -3'
(R):5'- TGACGTCCATTGAATCGCGC -3'

Sequencing Primer
(F):5'- AGTCTTTCCCTCCCGTTCCG -3'
(R):5'- ATTGAATCGCGCGGGCGGCCGGTGG -3'
Posted On 2018-07-24