Incidental Mutation 'R5326:Fst'
ID 421989
Institutional Source Beutler Lab
Gene Symbol Fst
Ensembl Gene ENSMUSG00000021765
Gene Name follistatin
Synonyms
MMRRC Submission 042909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R5326 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 114588826-114595487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114592241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 159 (Q159K)
Ref Sequence ENSEMBL: ENSMUSP00000156375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022287] [ENSMUST00000223640] [ENSMUST00000231252]
AlphaFold P47931
Predicted Effect probably damaging
Transcript: ENSMUST00000022287
AA Change: Q159K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022287
Gene: ENSMUSG00000021765
AA Change: Q159K

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 possibly damaging
Transcript: ENSMUST00000223640
AA Change: Q159K

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223865
Predicted Effect probably benign
Transcript: ENSMUST00000225068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225706
Predicted Effect probably damaging
Transcript: ENSMUST00000231252
AA Change: Q159K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231498
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,336 (GRCm39) T127A probably damaging Het
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Actl6b T C 5: 137,565,313 (GRCm39) S366P probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Adgrf5 T A 17: 43,750,965 (GRCm39) I510N probably damaging Het
Adra2a A G 19: 54,035,112 (GRCm39) Y156C probably damaging Het
Angpt4 T C 2: 151,767,464 (GRCm39) probably null Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Brd3 A G 2: 27,340,556 (GRCm39) L551P probably benign Het
Calb2 C T 8: 110,883,610 (GRCm39) G38D possibly damaging Het
Cand1 G A 10: 119,047,933 (GRCm39) A519V probably benign Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Cog6 T A 3: 52,921,237 (GRCm39) Q123L probably null Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Depdc1a T C 3: 159,232,286 (GRCm39) V679A probably damaging Het
Dyrk1a A G 16: 94,487,440 (GRCm39) D512G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Frs2 T C 10: 116,913,468 (GRCm39) S121G probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Ggt1 T C 10: 75,421,540 (GRCm39) probably null Het
Gigyf2 T C 1: 87,352,860 (GRCm39) probably benign Het
Gm10439 T G X: 148,419,159 (GRCm39) *434E probably null Het
Gm9476 T A 10: 100,142,996 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,703,127 (GRCm39) N102K possibly damaging Het
Gml T C 15: 74,688,299 (GRCm39) N56S probably damaging Het
Gpam A C 19: 55,079,597 (GRCm39) S128R probably benign Het
Gucy1b2 C T 14: 62,690,779 (GRCm39) probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hmx3 C T 7: 131,146,146 (GRCm39) Q285* probably null Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighv5-17 T C 12: 113,822,878 (GRCm39) D81G possibly damaging Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Iqcd A G 5: 120,740,440 (GRCm39) Q257R probably damaging Het
Itpk1 T C 12: 102,540,225 (GRCm39) N286S possibly damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Knop1 T C 7: 118,452,495 (GRCm39) K23E possibly damaging Het
Ksr2 T A 5: 117,846,305 (GRCm39) V724E probably damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,244,784 (GRCm39) probably null Het
Morc2b T A 17: 33,355,907 (GRCm39) T622S probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtmr2 A G 9: 13,699,943 (GRCm39) Y38C probably damaging Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nadsyn1 T A 7: 143,362,567 (GRCm39) R279W probably benign Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56b35 T A 7: 104,963,646 (GRCm39) F145Y probably damaging Het
Or7a38 G A 10: 78,753,420 (GRCm39) V249I possibly damaging Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Prkar1b T C 5: 139,113,544 (GRCm39) probably null Het
Ric8b T C 10: 84,828,076 (GRCm39) Y467H probably damaging Het
Rin1 A G 19: 5,102,652 (GRCm39) E387G probably damaging Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Seh1l C T 18: 67,908,069 (GRCm39) probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Snrnp70 GCGGTCCCGGTCCCGGTC GCGGTCCCGGTC 7: 45,026,657 (GRCm39) probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Spin1 A G 13: 51,293,563 (GRCm39) Y91C probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trim30c T A 7: 104,037,511 (GRCm39) M152L possibly damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Wdr11 T C 7: 129,226,973 (GRCm39) S812P probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zdbf2 T G 1: 63,343,570 (GRCm39) C650G possibly damaging Het
Zfp282 T A 6: 47,882,261 (GRCm39) N649K 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
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
Predicted Primers PCR Primer
(F):5'- ATCTATGACTCCAGGCTGGC -3'
(R):5'- CCAACTCCTAGAAACGTGTGAG -3'

Sequencing Primer
(F):5'- AGGCTGGCTCCTTCATTAATTATC -3'
(R):5'- CGTGTGAGAACGTGGACTGC -3'
Posted On 2016-08-04