Incidental Mutation 'R5601:Fstl1'
ID 439043
Institutional Source Beutler Lab
Gene Symbol Fstl1
Ensembl Gene ENSMUSG00000022816
Gene Name follistatin-like 1
Synonyms TSC-36
MMRRC Submission 043153-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # R5601 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 37597417-37656878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37647161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 177 (I177T)
Ref Sequence ENSEMBL: ENSMUSP00000110411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114763]
AlphaFold Q62356
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: 91,931,029 (GRCm39) V426I probably benign Het
Asmt T C X: 169,110,127 (GRCm39) V212A probably damaging Het
Atn1 A G 6: 124,720,191 (GRCm39) probably null Het
Auts2 G T 5: 131,505,662 (GRCm39) probably benign Het
AW551984 C T 9: 39,502,563 (GRCm39) V672M possibly damaging Het
Bltp3a C A 17: 28,103,468 (GRCm39) A392D probably damaging Het
Ccdc13 G A 9: 121,629,638 (GRCm39) Q114* probably null Het
Ces2e A T 8: 105,656,126 (GRCm39) I146F probably benign Het
Cfap44 A G 16: 44,280,549 (GRCm39) K1443E probably damaging Het
Cma2 T A 14: 56,211,246 (GRCm39) H179Q possibly damaging Het
Cpsf2 G T 12: 101,951,614 (GRCm39) probably null Het
Cwh43 A G 5: 73,575,283 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dram1 A G 10: 88,160,629 (GRCm39) S231P probably damaging Het
Fbxw7 A G 3: 84,883,515 (GRCm39) D482G probably damaging Het
Fut9 T C 4: 25,620,299 (GRCm39) T172A probably benign Het
Gm5134 G A 10: 75,821,786 (GRCm39) V207M probably damaging Het
Hccs G A X: 168,096,597 (GRCm39) R203C probably damaging Het
Hmgxb3 A T 18: 61,270,694 (GRCm39) F877I probably damaging Het
Ide A G 19: 37,292,379 (GRCm39) V272A unknown Het
Impact C T 18: 13,109,064 (GRCm39) T65I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Muc17 A G 5: 137,166,863 (GRCm39) S309P probably damaging Het
Myf6 A C 10: 107,330,475 (GRCm39) S31A probably damaging Het
Or4n4b C A 14: 50,536,318 (GRCm39) W149C probably damaging Het
Or8b35 C G 9: 37,904,010 (GRCm39) T74R possibly damaging Het
P4hb T A 11: 120,462,441 (GRCm39) E88D possibly damaging Het
Pcdhb9 T C 18: 37,535,259 (GRCm39) C418R probably damaging Het
Pramel51 T C 12: 88,142,817 (GRCm39) D267G probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prss58 A T 6: 40,874,783 (GRCm39) N19K possibly damaging Het
Ptprq C T 10: 107,444,291 (GRCm39) A1438T probably benign Het
Rfx4 A T 10: 84,634,442 (GRCm39) T61S probably damaging Het
Sclt1 T A 3: 41,685,354 (GRCm39) N35Y probably benign Het
Sec24b CTG CTGGTG 3: 129,834,483 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,881,427 (GRCm39) I188T probably damaging Het
Slc27a4 A T 2: 29,695,672 (GRCm39) Y69F probably benign Het
Slc3a1 T C 17: 85,340,319 (GRCm39) V247A probably benign Het
Slc4a2 C T 5: 24,643,772 (GRCm39) T854I probably benign Het
Stat5b G A 11: 100,674,001 (GRCm39) T761M probably damaging Het
Stkld1 T C 2: 26,842,717 (GRCm39) L563P probably damaging Het
Tbc1d23 C A 16: 57,018,672 (GRCm39) C283F probably benign Het
Tcaf3 T C 6: 42,564,462 (GRCm39) N900S possibly damaging Het
Tkfc T C 19: 10,571,927 (GRCm39) T370A probably benign Het
Tpr T C 1: 150,311,604 (GRCm39) V1868A possibly damaging Het
Triobp T A 15: 78,857,833 (GRCm39) W1145R probably damaging Het
Vmn2r82 T G 10: 79,232,025 (GRCm39) L675V probably damaging Het
Zfp423 T C 8: 88,508,637 (GRCm39) E444G probably damaging 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
R1325:Fstl1 UTSW 16 37,649,083 (GRCm39) missense probably damaging 0.99
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
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'- GATCTGAGCCATTACTACTGTGG -3'
(R):5'- AGATTGGGACAGAAACCTCAC -3'

Sequencing Primer
(F):5'- AGCCATTACTACTGTGGGCTAG -3'
(R):5'- TGGGACAGAAACCTCACTTTTC -3'
Posted On 2016-10-26