Incidental Mutation 'R1325:Fstl1'
ID 157196
Institutional Source Beutler Lab
Gene Symbol Fstl1
Ensembl Gene ENSMUSG00000022816
Gene Name follistatin-like 1
Synonyms TSC-36
MMRRC Submission 039391-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R1325 (G1)
Quality Score 167
Status Not validated
Chromosome 16
Chromosomal Location 37597417-37656878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37649083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 197 (D197G)
Ref Sequence ENSEMBL: ENSMUSP00000110411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114763]
AlphaFold Q62356
Predicted Effect probably damaging
Transcript: ENSMUST00000114763
AA Change: D197G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: D197G

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: 98.9%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,499,938 (GRCm39) I293T possibly damaging Het
Abca14 A G 7: 119,846,545 (GRCm39) I666V probably benign Het
Acsl1 G A 8: 46,966,337 (GRCm39) V164I probably benign Het
Aox3 C T 1: 58,215,726 (GRCm39) Q1053* probably null Het
Arhgap31 A G 16: 38,423,304 (GRCm39) S921P probably benign Het
Bcl6 A G 16: 23,791,097 (GRCm39) M419T probably benign Het
Bdp1 A G 13: 100,235,516 (GRCm39) I145T probably damaging Het
Btaf1 T C 19: 36,946,562 (GRCm39) V456A possibly damaging Het
Cry2 T C 2: 92,244,115 (GRCm39) T353A probably damaging Het
Dcxr A G 11: 120,617,381 (GRCm39) probably null Het
Echdc1 A T 10: 29,193,544 (GRCm39) T14S probably benign Het
Fgd6 G A 10: 93,963,289 (GRCm39) R1129H probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Krt1 A T 15: 101,756,641 (GRCm39) probably null Het
Lrrc9 C A 12: 72,543,878 (GRCm39) Q1116K probably damaging Het
Ncor2 T C 5: 125,195,844 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or2j6 G A 7: 139,980,794 (GRCm39) P55L probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Slc17a6 A G 7: 51,311,300 (GRCm39) E338G probably benign Het
Ttn A G 2: 76,730,738 (GRCm39) probably benign Het
Other mutations in Fstl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Fstl1 APN 16 37,647,175 (GRCm39) missense probably damaging 1.00
PIT4377001:Fstl1 UTSW 16 37,636,167 (GRCm39) missense probably benign 0.45
R0413:Fstl1 UTSW 16 37,641,516 (GRCm39) critical splice acceptor site probably null
R1816:Fstl1 UTSW 16 37,647,086 (GRCm39) critical splice acceptor site probably null
R2264:Fstl1 UTSW 16 37,597,653 (GRCm39) splice site probably benign
R3809:Fstl1 UTSW 16 37,647,113 (GRCm39) missense probably damaging 1.00
R4080:Fstl1 UTSW 16 37,642,965 (GRCm39) missense probably benign 0.05
R5351:Fstl1 UTSW 16 37,649,542 (GRCm39) missense probably damaging 0.98
R5601:Fstl1 UTSW 16 37,647,161 (GRCm39) missense probably benign 0.35
R6039:Fstl1 UTSW 16 37,641,538 (GRCm39) missense probably benign 0.18
R6039:Fstl1 UTSW 16 37,641,538 (GRCm39) missense probably benign 0.18
R6849:Fstl1 UTSW 16 37,641,521 (GRCm39) missense probably benign 0.10
R6983:Fstl1 UTSW 16 37,651,980 (GRCm39) missense probably benign 0.08
R7243:Fstl1 UTSW 16 37,647,088 (GRCm39) missense probably benign
R9170:Fstl1 UTSW 16 37,647,140 (GRCm39) missense probably damaging 0.99
R9752:Fstl1 UTSW 16 37,649,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGCGAACCCACTACATTCTTTC -3'
(R):5'- AATGCCCCATACGTTTATGGCCTC -3'

Sequencing Primer
(F):5'- cgaacccactacaTTCTTTCAAGTC -3'
(R):5'- TGGCCTCAATCTTATCATGGAG -3'
Posted On 2014-02-18