Incidental Mutation 'R4158:Flcn'
ID 315636
Institutional Source Beutler Lab
Gene Symbol Flcn
Ensembl Gene ENSMUSG00000032633
Gene Name folliculin
Synonyms BHD, B430214A04Rik
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4158 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59682234-59700842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59691947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 234 (N234S)
Ref Sequence ENSEMBL: ENSMUSP00000099758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047706] [ENSMUST00000091246] [ENSMUST00000102697]
AlphaFold Q8QZS3
Predicted Effect probably benign
Transcript: ENSMUST00000047706
SMART Domains Protein: ENSMUSP00000037675
Gene: ENSMUSG00000032633

DomainStartEndE-ValueType
low complexity region 62 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091246
AA Change: N234S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: N234S

DomainStartEndE-ValueType
low complexity region 62 79 N/A INTRINSIC
Pfam:Folliculin 103 267 3.5e-59 PFAM
low complexity region 293 308 N/A INTRINSIC
PDB:3V42|B 342 566 1e-144 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000102697
AA Change: N234S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: N234S

DomainStartEndE-ValueType
low complexity region 62 79 N/A INTRINSIC
Pfam:Folliculin 104 265 1.5e-55 PFAM
low complexity region 293 308 N/A INTRINSIC
Pfam:Folliculin_C 344 566 8.4e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148151
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign Het
Other mutations in Flcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Flcn APN 11 59,686,649 (GRCm39) missense probably damaging 1.00
IGL01890:Flcn APN 11 59,685,996 (GRCm39) missense probably benign 0.00
IGL02486:Flcn APN 11 59,691,869 (GRCm39) nonsense probably null
IGL02933:Flcn APN 11 59,694,583 (GRCm39) missense probably damaging 1.00
IGL02935:Flcn APN 11 59,686,062 (GRCm39) missense possibly damaging 0.93
IGL03246:Flcn APN 11 59,684,936 (GRCm39) missense possibly damaging 0.82
Pansy UTSW 11 59,683,485 (GRCm39) missense probably damaging 0.99
R0238:Flcn UTSW 11 59,691,902 (GRCm39) missense probably benign 0.00
R0238:Flcn UTSW 11 59,691,902 (GRCm39) missense probably benign 0.00
R0239:Flcn UTSW 11 59,691,902 (GRCm39) missense probably benign 0.00
R0239:Flcn UTSW 11 59,691,902 (GRCm39) missense probably benign 0.00
R0265:Flcn UTSW 11 59,686,635 (GRCm39) nonsense probably null
R0534:Flcn UTSW 11 59,685,025 (GRCm39) splice site probably benign
R0551:Flcn UTSW 11 59,686,574 (GRCm39) critical splice donor site probably null
R1016:Flcn UTSW 11 59,686,691 (GRCm39) critical splice acceptor site probably null
R1108:Flcn UTSW 11 59,692,026 (GRCm39) missense possibly damaging 0.77
R2350:Flcn UTSW 11 59,683,485 (GRCm39) missense probably damaging 0.99
R4367:Flcn UTSW 11 59,694,610 (GRCm39) missense possibly damaging 0.90
R4371:Flcn UTSW 11 59,694,610 (GRCm39) missense possibly damaging 0.90
R4612:Flcn UTSW 11 59,683,513 (GRCm39) missense probably damaging 1.00
R4689:Flcn UTSW 11 59,691,870 (GRCm39) missense possibly damaging 0.87
R5849:Flcn UTSW 11 59,695,586 (GRCm39) missense probably damaging 0.99
R6007:Flcn UTSW 11 59,683,448 (GRCm39) missense probably benign 0.08
R6433:Flcn UTSW 11 59,691,908 (GRCm39) missense probably damaging 0.97
R6525:Flcn UTSW 11 59,684,998 (GRCm39) missense possibly damaging 0.75
R7027:Flcn UTSW 11 59,686,632 (GRCm39) missense probably damaging 1.00
R7632:Flcn UTSW 11 59,686,625 (GRCm39) nonsense probably null
R8018:Flcn UTSW 11 59,684,948 (GRCm39) missense probably damaging 0.97
R9011:Flcn UTSW 11 59,690,233 (GRCm39) missense possibly damaging 0.82
R9414:Flcn UTSW 11 59,684,998 (GRCm39) missense possibly damaging 0.75
R9453:Flcn UTSW 11 59,694,609 (GRCm39) missense probably damaging 0.99
R9458:Flcn UTSW 11 59,690,208 (GRCm39) missense possibly damaging 0.88
R9748:Flcn UTSW 11 59,692,980 (GRCm39) missense probably benign 0.03
X0002:Flcn UTSW 11 59,695,363 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGAACTCTCTGCGTTGGAG -3'
(R):5'- AGGCATTGCTAGACTGCTG -3'

Sequencing Primer
(F):5'- TGCGTTGGAGCAGACCTACAG -3'
(R):5'- ATTGCTAGACTGCTGCCAAG -3'
Posted On 2015-05-14