Incidental Mutation 'R9533:Fst'
ID 719580
Institutional Source Beutler Lab
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R9533 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 114588826-114595487 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 114592397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 107 (R107*)
Ref Sequence ENSEMBL: ENSMUSP00000022287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect probably null
Transcript: ENSMUST00000022287
AA Change: R107*
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: R107*

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 null
Transcript: ENSMUST00000223640
AA Change: R107*
Predicted Effect probably benign
Transcript: ENSMUST00000225068
Predicted Effect probably null
Transcript: ENSMUST00000231252
AA Change: R107*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,102,582 (GRCm39) V881I probably benign Het
Acot1 C T 12: 84,063,988 (GRCm39) S57F Het
Actr3 T C 1: 125,339,048 (GRCm39) I97V probably benign Het
C4b A T 17: 34,956,698 (GRCm39) C633* probably null Het
Cdh19 T A 1: 110,817,589 (GRCm39) T718S probably damaging Het
Coasy T A 11: 100,975,852 (GRCm39) S355T probably benign Het
Coch A G 12: 51,650,132 (GRCm39) I374V possibly damaging Het
Dhrs7l C T 12: 72,675,050 (GRCm39) probably benign Het
Dip2b T A 15: 100,073,178 (GRCm39) M760K probably benign Het
Evi5 A G 5: 107,957,566 (GRCm39) Y428H probably damaging Het
Gba1 A G 3: 89,114,756 (GRCm39) T387A probably benign Het
Gid8 A T 2: 180,358,713 (GRCm39) Q126L probably damaging Het
Iqgap1 A G 7: 80,383,929 (GRCm39) V1045A possibly damaging Het
Kif23 G A 9: 61,832,924 (GRCm39) S535L probably benign Het
Krt79 G A 15: 101,848,417 (GRCm39) A78V possibly damaging Het
Lama2 A G 10: 26,862,871 (GRCm39) F2964S probably damaging Het
Lamp3 T C 16: 19,519,808 (GRCm39) D125G probably benign Het
Lrrc15 C T 16: 30,092,637 (GRCm39) G234D possibly damaging Het
Myo7b A G 18: 32,108,297 (GRCm39) V1188A probably benign Het
Nbeal2 T C 9: 110,473,729 (GRCm39) T37A probably benign Het
Nlrp1b T C 11: 71,109,095 (GRCm39) I135M probably benign Het
Or2a51 A G 6: 43,178,991 (GRCm39) R138G probably benign Het
Or6c69 T A 10: 129,747,404 (GRCm39) I248F probably benign Het
P3h2 T C 16: 25,789,725 (GRCm39) Y514C probably damaging Het
Pcdha5 A G 18: 37,093,986 (GRCm39) N165S probably damaging Het
Phf10 G C 17: 15,175,366 (GRCm39) H157D probably damaging Het
Ppip5k2 C T 1: 97,661,792 (GRCm39) R708H probably benign Het
Prr12 A G 7: 44,698,692 (GRCm39) S408P unknown Het
Rab3a A T 8: 71,209,804 (GRCm39) Y123F probably damaging Het
Rbak A T 5: 143,160,172 (GRCm39) S294T probably damaging Het
Sarm1 T C 11: 78,373,996 (GRCm39) D677G probably damaging Het
Scly A T 1: 91,228,413 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,735,481 (GRCm39) V385A probably damaging Het
Slc66a2 T C 18: 80,327,034 (GRCm39) V209A unknown Het
Srp72 T C 5: 77,128,274 (GRCm39) V165A probably benign Het
Tars3 A C 7: 65,333,808 (GRCm39) probably null Het
Tspan1 T A 4: 116,020,211 (GRCm39) M233L probably benign Het
Zfp574 G A 7: 24,780,379 (GRCm39) G467D probably damaging Het
Zfp85 A G 13: 67,897,722 (GRCm39) S117P probably benign Het
Zfp932 C G 5: 110,157,787 (GRCm39) P495R probably 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
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
Predicted Primers PCR Primer
(F):5'- TACATTTGCCCTGGTACTGTAC -3'
(R):5'- GATACAGGACTTGGCCTGAG -3'

Sequencing Primer
(F):5'- GGTACTGTACTTCTAGTTCCGGC -3'
(R):5'- TATCCCTTCCAGGAGACAGTCTGG -3'
Posted On 2022-07-18