Incidental Mutation 'R5601:Fstl1'
ID439043
Institutional Source Beutler Lab
Gene Symbol Fstl1
Ensembl Gene ENSMUSG00000022816
Gene Namefollistatin-like 1
SynonymsTSC-36
MMRRC Submission 043153-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.718) question?
Stock #R5601 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location37776873-37836514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37826799 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 177 (I177T)
Ref Sequence ENSEMBL: ENSMUSP00000110411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114763]
Predicted Effect probably benign
Transcript: ENSMUST00000114763
AA Change: I177T

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: I177T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FOLN 28 51 6.8e-7 SMART
KAZAL 51 96 4.48e-16 SMART
low complexity region 99 110 N/A INTRINSIC
EFh 146 173 5.43e1 SMART
EFh 195 223 5.08e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127495
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, soft and enlarged trachea, cyanosis, primary atelectasis, lung epithelial cell hyperplasia, over-expanded bronchiole, impaired pneumocyte differentiation and maturation, and decreased surfactant production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,782,910 V426I probably benign Het
Asmt T C X: 170,676,392 V212A probably damaging Het
Atn1 A G 6: 124,743,228 probably null Het
Auts2 G T 5: 131,476,823 probably benign Het
AW551984 C T 9: 39,591,267 V672M possibly damaging Het
Ccdc13 G A 9: 121,800,572 Q114* probably null Het
Ces2e A T 8: 104,929,494 I146F probably benign Het
Cfap44 A G 16: 44,460,186 K1443E probably damaging Het
Cma2 T A 14: 55,973,789 H179Q possibly damaging Het
Cpsf2 G T 12: 101,985,355 probably null Het
Cwh43 A G 5: 73,417,940 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dram1 A G 10: 88,324,767 S231P probably damaging Het
Fbxw7 A G 3: 84,976,208 D482G probably damaging Het
Fut9 T C 4: 25,620,299 T172A probably benign Het
Gm10436 T C 12: 88,176,047 D267G probably damaging Het
Gm5134 G A 10: 75,985,952 V207M probably damaging Het
Hccs G A X: 169,313,601 R203C probably damaging Het
Hmgxb3 A T 18: 61,137,622 F877I probably damaging Het
Ide A G 19: 37,314,980 V272A unknown Het
Impact C T 18: 12,976,007 T65I probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Muc3 A G 5: 137,138,015 S309P probably damaging Het
Myf6 A C 10: 107,494,614 S31A probably damaging Het
Olfr733 C A 14: 50,298,861 W149C probably damaging Het
Olfr881 C G 9: 37,992,714 T74R possibly damaging Het
P4hb T A 11: 120,571,615 E88D possibly damaging Het
Pcdhb9 T C 18: 37,402,206 C418R probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,893,123 probably null Het
Prss58 A T 6: 40,897,849 N19K possibly damaging Het
Ptprq C T 10: 107,608,430 A1438T probably benign Het
Rfx4 A T 10: 84,798,578 T61S probably damaging Het
Sclt1 T A 3: 41,730,919 N35Y probably benign Het
Sec24b CTG CTGGTG 3: 130,040,834 probably benign Het
Serpinb12 T C 1: 106,953,697 I188T probably damaging Het
Slc27a4 A T 2: 29,805,660 Y69F probably benign Het
Slc3a1 T C 17: 85,032,891 V247A probably benign Het
Slc4a2 C T 5: 24,438,774 T854I probably benign Het
Stat5b G A 11: 100,783,175 T761M probably damaging Het
Stkld1 T C 2: 26,952,705 L563P probably damaging Het
Tbc1d23 C A 16: 57,198,309 C283F probably benign Het
Tcaf3 T C 6: 42,587,528 N900S possibly damaging Het
Tkfc T C 19: 10,594,563 T370A probably benign Het
Tpr T C 1: 150,435,853 V1868A possibly damaging Het
Triobp T A 15: 78,973,633 W1145R probably damaging Het
Uhrf1bp1 C A 17: 27,884,494 A392D probably damaging Het
Vmn2r82 T G 10: 79,396,191 L675V probably damaging Het
Zfp423 T C 8: 87,782,009 E444G probably damaging Het
Other mutations in Fstl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Fstl1 APN 16 37826813 missense probably damaging 1.00
PIT4377001:Fstl1 UTSW 16 37815805 missense probably benign 0.45
R0413:Fstl1 UTSW 16 37821154 critical splice acceptor site probably null
R1325:Fstl1 UTSW 16 37828721 missense probably damaging 0.99
R1816:Fstl1 UTSW 16 37826724 critical splice acceptor site probably null
R2264:Fstl1 UTSW 16 37777291 splice site probably benign
R3809:Fstl1 UTSW 16 37826751 missense probably damaging 1.00
R4080:Fstl1 UTSW 16 37822603 missense probably benign 0.05
R5351:Fstl1 UTSW 16 37829180 missense probably damaging 0.98
R6039:Fstl1 UTSW 16 37821176 missense probably benign 0.18
R6039:Fstl1 UTSW 16 37821176 missense probably benign 0.18
R6849:Fstl1 UTSW 16 37821159 missense probably benign 0.10
R6983:Fstl1 UTSW 16 37831618 missense probably benign 0.08
R7243:Fstl1 UTSW 16 37826726 missense probably benign
Predicted Primers PCR Primer
(F):5'- GATCTGAGCCATTACTACTGTGG -3'
(R):5'- AGATTGGGACAGAAACCTCAC -3'

Sequencing Primer
(F):5'- AGCCATTACTACTGTGGGCTAG -3'
(R):5'- TGGGACAGAAACCTCACTTTTC -3'
Posted On2016-10-26