Incidental Mutation 'R6525:Flcn'
ID 521733
Institutional Source Beutler Lab
Gene Symbol Flcn
Ensembl Gene ENSMUSG00000032633
Gene Name folliculin
Synonyms BHD, B430214A04Rik
MMRRC Submission 044651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6525 (G1)
Quality Score 220.009
Status Not validated
Chromosome 11
Chromosomal Location 59682234-59700842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59684998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 484 (N484K)
Ref Sequence ENSEMBL: ENSMUSP00000099758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091246] [ENSMUST00000102697]
AlphaFold Q8QZS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000091246
AA Change: N484K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: N484K

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 possibly damaging
Transcript: ENSMUST00000102697
AA Change: N484K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: N484K

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: ENSMUST00000148151
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 96% (71/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,931,308 (GRCm39) E1447G probably benign Het
Acss2 A G 2: 155,392,337 (GRCm39) N261S probably benign Het
Adcy8 C A 15: 64,609,243 (GRCm39) G859* probably null Het
Agbl3 A T 6: 34,780,529 (GRCm39) K496* probably null Het
Antxrl A T 14: 33,782,363 (GRCm39) D182V probably damaging Het
Arid5b A G 10: 67,933,496 (GRCm39) L559P possibly damaging Het
Azi2 T A 9: 117,876,663 (GRCm39) S60T probably damaging Het
Bahcc1 T C 11: 120,176,048 (GRCm39) Y1931H probably damaging Het
Cnga1 T A 5: 72,775,574 (GRCm39) E49V probably damaging Het
Col3a1 A G 1: 45,386,339 (GRCm39) N160D possibly damaging Het
Crem C A 18: 3,268,070 (GRCm39) R267L probably damaging Het
Ddx52 T C 11: 83,844,145 (GRCm39) probably null Het
Ddx6 T C 9: 44,534,926 (GRCm39) I127T probably damaging Het
Dop1b T A 16: 93,606,304 (GRCm39) Y2094N probably damaging Het
Dst C A 1: 34,202,216 (GRCm39) N181K probably damaging Het
Dusp7 A G 9: 106,246,483 (GRCm39) K163E possibly damaging Het
Dynlt1a T A 17: 6,362,014 (GRCm39) T55S probably benign Het
Enpp2 T C 15: 54,733,607 (GRCm39) N451S probably benign Het
Faap100 C A 11: 120,269,590 (GRCm39) probably null Het
Fam53a T C 5: 33,765,262 (GRCm39) N148S probably damaging Het
Fat2 T C 11: 55,174,626 (GRCm39) D2029G probably damaging Het
Gbp10 T A 5: 105,383,950 (GRCm39) E17D probably benign Het
Gm14226 T C 2: 154,867,003 (GRCm39) V320A possibly damaging Het
Gna13 T C 11: 109,286,765 (GRCm39) I196T probably damaging Het
Gorasp1 G T 9: 119,757,061 (GRCm39) P374T possibly damaging Het
Hc T C 2: 34,881,236 (GRCm39) D1461G probably benign Het
Hmcn1 T C 1: 150,573,317 (GRCm39) N2111D probably damaging Het
Hs3st3b1 G A 11: 63,812,424 (GRCm39) S97L probably benign Het
Hsdl2 A G 4: 59,612,696 (GRCm39) T296A probably damaging Het
Impg2 A G 16: 56,025,512 (GRCm39) D48G probably damaging Het
Kbtbd12 A T 6: 88,591,062 (GRCm39) N383K probably benign Het
Kcnj12 T G 11: 60,960,397 (GRCm39) F232V probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Ldhb T C 6: 142,436,191 (GRCm39) D326G probably benign Het
Lrrc49 A G 9: 60,505,432 (GRCm39) L607S probably damaging Het
Ltn1 A G 16: 87,217,074 (GRCm39) S388P probably damaging Het
Mansc4 A G 6: 146,976,645 (GRCm39) S324P probably benign Het
Meltf G A 16: 31,707,717 (GRCm39) W368* probably null Het
Nacad A G 11: 6,552,255 (GRCm39) L312P probably damaging Het
Ndc1 G T 4: 107,225,304 (GRCm39) G7W probably benign Het
Nmral1 T A 16: 4,532,296 (GRCm39) K172* probably null Het
Nol9 G T 4: 152,123,906 (GRCm39) R32L probably damaging Het
Nsun5 A G 5: 135,403,912 (GRCm39) Y296C probably damaging Het
Or4k51 C T 2: 111,585,329 (GRCm39) T245I probably benign Het
Oscp1 A G 4: 125,970,571 (GRCm39) D120G possibly damaging Het
Parp14 C T 16: 35,680,811 (GRCm39) C274Y probably benign Het
Pced1b T A 15: 97,282,679 (GRCm39) H239Q possibly damaging Het
Pgap1 T C 1: 54,521,048 (GRCm39) I865V probably benign Het
Ppp6r3 T A 19: 3,543,936 (GRCm39) S360C probably damaging Het
Prb1a A G 6: 132,184,467 (GRCm39) S389P unknown Het
Prr16 T G 18: 51,436,227 (GRCm39) S235R probably benign Het
Rab11fip1 T C 8: 27,646,527 (GRCm39) N183S probably benign Het
Rcn1 A G 2: 105,219,320 (GRCm39) probably null Het
Rimkla C A 4: 119,325,288 (GRCm39) A374S probably benign Het
Skint8 A T 4: 111,785,935 (GRCm39) D127V probably damaging Het
Slc12a6 A G 2: 112,182,796 (GRCm39) K724E probably damaging Het
Slc13a3 T C 2: 165,248,667 (GRCm39) N537S unknown Het
Slc26a5 T C 5: 22,025,348 (GRCm39) D457G possibly damaging Het
Slx4ip T C 2: 136,842,138 (GRCm39) V21A possibly damaging Het
Stt3b A G 9: 115,087,626 (GRCm39) Y291H probably damaging Het
Syn3 G A 10: 86,302,916 (GRCm39) P80S probably damaging Het
Tasor2 G A 13: 3,626,540 (GRCm39) Q455* probably null Het
Tiam1 A T 16: 89,655,485 (GRCm39) probably null Het
Tjp1 T C 7: 64,993,399 (GRCm39) D58G probably damaging Het
Tmprss15 T A 16: 78,800,266 (GRCm39) I621F probably damaging Het
Tns1 C T 1: 73,992,629 (GRCm39) S683N probably damaging Het
Ttn A G 2: 76,773,436 (GRCm39) L2322P probably damaging Het
Ugdh G T 5: 65,574,402 (GRCm39) H409N probably damaging Het
Vmn2r81 T A 10: 79,129,560 (GRCm39) M817K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zbtb34 A G 2: 33,302,145 (GRCm39) V132A probably damaging Het
Zfp119b A G 17: 56,246,992 (GRCm39) C33R possibly damaging 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
R4158:Flcn UTSW 11 59,691,947 (GRCm39) missense probably benign 0.26
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
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'- AAAGCCACAGAGAGCTGCTC -3'
(R):5'- GCCACAGAGTTCGTAGTTGTC -3'

Sequencing Primer
(F):5'- GAGAGCTGCTCTACCCCTTG -3'
(R):5'- AACCTCCACCCTGCTGG -3'
Posted On 2018-06-06