Incidental Mutation 'R7319:Fst'
ID 568080
Institutional Source Beutler Lab
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
Synonyms
MMRRC Submission 045415-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 114588826-114595487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114595068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 19 (C19S)
Ref Sequence ENSEMBL: ENSMUSP00000022287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect probably benign
Transcript: ENSMUST00000022287
AA Change: C19S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: C19S

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: C19S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225068
Predicted Effect probably benign
Transcript: ENSMUST00000231252
AA Change: C19S

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (79/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,393,635 (GRCm39) I287N probably benign Het
Aco2 G T 15: 81,787,820 (GRCm39) E223D probably damaging Het
Acsf3 T A 8: 123,539,770 (GRCm39) I466N probably damaging Het
Albfm1 G A 5: 90,719,625 (GRCm39) probably null Het
Aox3 T A 1: 58,191,761 (GRCm39) F438I probably benign Het
Arhgap33 T C 7: 30,225,794 (GRCm39) T591A probably benign Het
Ash1l C T 3: 88,888,694 (GRCm39) A191V probably benign Het
Btg2 T C 1: 134,006,779 (GRCm39) K5E probably benign Het
C1galt1 T A 6: 7,871,150 (GRCm39) Y329N probably damaging Het
Cacna1h A G 17: 25,608,435 (GRCm39) I824T possibly damaging Het
Carmil3 A G 14: 55,731,817 (GRCm39) I182V probably benign Het
Ccdc150 T A 1: 54,302,496 (GRCm39) probably null Het
Chek1 T A 9: 36,633,939 (GRCm39) R129W probably damaging Het
Chrna6 A G 8: 27,896,815 (GRCm39) M354T possibly damaging Het
Cpq A G 15: 33,250,185 (GRCm39) T181A probably benign Het
Csmd2 A T 4: 128,287,472 (GRCm39) Y1069F Het
Defb28 T A 2: 152,361,974 (GRCm39) C45S possibly damaging Het
Dnah1 A G 14: 31,018,551 (GRCm39) Y1360H probably benign Het
Dnah7c T C 1: 46,823,608 (GRCm39) V3749A possibly damaging Het
Dnah7c T A 1: 46,819,935 (GRCm39) D3728E probably benign Het
Dym G A 18: 75,196,245 (GRCm39) probably null Het
Dync2i2 G A 2: 29,928,341 (GRCm39) P95L probably benign Het
Dzip3 A G 16: 48,747,903 (GRCm39) probably null Het
Eef1akmt4 A G 16: 20,436,666 (GRCm39) K163E probably benign Het
Fbrs A G 7: 127,081,985 (GRCm39) T242A possibly damaging Het
Fgfr3 G A 5: 33,885,146 (GRCm39) V87M possibly damaging Het
Gm7276 G A 18: 77,273,216 (GRCm39) R173W unknown Het
Gm9195 G A 14: 72,697,929 (GRCm39) H1284Y probably benign Het
Herc6 C A 6: 57,581,074 (GRCm39) T258K probably damaging Het
Hip1r A G 5: 124,137,174 (GRCm39) Y678C probably damaging Het
Ifne A T 4: 88,798,243 (GRCm39) N58K probably damaging Het
Ighv1-26 A T 12: 114,752,163 (GRCm39) H60Q possibly damaging Het
Ints1 A G 5: 139,746,520 (GRCm39) F1276L probably damaging Het
Itprid2 A T 2: 79,466,416 (GRCm39) D82V probably damaging Het
Kcnc4 T A 3: 107,366,100 (GRCm39) E36V probably benign Het
Kcnq2 C T 2: 180,750,895 (GRCm39) G315S probably damaging Het
Kdm4c G A 4: 74,255,200 (GRCm39) V585M probably damaging Het
Klhl26 C T 8: 70,905,592 (GRCm39) R106H probably damaging Het
Kmo T C 1: 175,481,221 (GRCm39) F313S probably damaging Het
Lmtk3 T A 7: 45,443,740 (GRCm39) S808T unknown Het
Lrch3 A G 16: 32,815,363 (GRCm39) T585A probably benign Het
Lrch4 T A 5: 137,637,977 (GRCm39) H86Q Het
Map3k20 A G 2: 72,195,062 (GRCm39) D113G probably damaging Het
Mbd3l1 T C 9: 18,396,417 (GRCm39) S181P probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Med27 A G 2: 29,303,490 (GRCm39) R147G possibly damaging Het
Mrps5 T A 2: 127,437,762 (GRCm39) S196R possibly damaging Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Myo16 A T 8: 10,526,185 (GRCm39) probably null Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Pcdha11 C T 18: 37,146,245 (GRCm39) P779S probably benign Het
Phykpl A G 11: 51,489,530 (GRCm39) T379A probably benign Het
Plekha8 A C 6: 54,601,206 (GRCm39) M270L probably benign Het
Plekhg5 A G 4: 152,192,885 (GRCm39) H593R probably benign Het
Polr2a T C 11: 69,637,196 (GRCm39) N293S possibly damaging Het
Pramel32 G A 4: 88,548,184 (GRCm39) P74S probably benign Het
Prex2 T A 1: 11,232,532 (GRCm39) N866K probably benign Het
Psme4 A T 11: 30,757,790 (GRCm39) I308L probably benign Het
Ptprb T C 10: 116,177,309 (GRCm39) V1003A probably benign Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Rnaset2b A T 17: 7,259,166 (GRCm39) D144V probably benign Het
Senp6 T G 9: 80,033,481 (GRCm39) D662E probably damaging Het
Serpinb3c T C 1: 107,200,817 (GRCm39) N200S possibly damaging Het
Serpinb9g C G 13: 33,672,543 (GRCm39) Y113* probably null Het
Sgf29 T C 7: 126,270,821 (GRCm39) I134T probably benign Het
Sh3bp4 T G 1: 89,080,824 (GRCm39) probably null Het
Stab1 G A 14: 30,862,783 (GRCm39) L2243F probably damaging Het
Sympk T C 7: 18,769,770 (GRCm39) V149A probably benign Het
Syt3 C T 7: 44,041,953 (GRCm39) Q271* probably null Het
Tas2r109 A G 6: 132,957,663 (GRCm39) I89T probably benign Het
Tgif1 A G 17: 71,151,847 (GRCm39) S255P probably damaging Het
Tm9sf1 G A 14: 55,875,432 (GRCm39) probably benign Het
Tnf A G 17: 35,419,347 (GRCm39) F161S possibly damaging Het
Topaz1 T A 9: 122,579,428 (GRCm39) S779R possibly damaging Het
Topors A G 4: 40,260,540 (GRCm39) S915P unknown Het
Tpm4 C T 8: 72,900,321 (GRCm39) L161F probably damaging Het
Trim38 C T 13: 23,975,384 (GRCm39) T441I probably damaging Het
Trpv1 A G 11: 73,141,620 (GRCm39) M548V probably benign Het
Vmn2r68 T A 7: 84,883,042 (GRCm39) T237S probably benign Het
Zc3hav1 A G 6: 38,309,209 (GRCm39) S538P probably benign Het
Zfp541 C T 7: 15,813,294 (GRCm39) T649I probably benign 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
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'- TCTGACGTCCATTGAATCGC -3'

Sequencing Primer
(F):5'- AGTCTTTCCCTCCCGTTCCG -3'
(R):5'- TCCATTGAATCGCGCGGG -3'
Posted On 2019-06-26