Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Flcn'

685645

Institutional Source

Beutler Lab

Gene Symbol

Flcn

Ensembl Gene

ENSMUSG00000032633

Gene Name

folliculin

Synonyms

B430214A04Rik, BHD

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59791408-59810016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59799407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000091696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091246] [ENSMUST00000102697]

AlphaFold

Q8QZS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091246
AA Change: L273P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: L273P

Domain	Start	End	E-Value	Type
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: L273P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: L273P

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,304	I176F	possibly damaging	Het
Actr10	A	G	12: 70,952,960	T177A	probably benign	Het
Adgrb2	G	A	4: 130,022,318	D1468N	probably damaging	Het
AF067061	A	G	13: 120,264,210	T137A	probably damaging	Het
Aldh16a1	A	G	7: 45,145,527	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,526,618	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,207,440	S97G	probably benign	Het
Cacna1g	C	T	11: 94,415,837	G1905D	probably benign	Het
Ccne1	A	T	7: 38,106,660	M13K	probably benign	Het
Chil3	A	T	3: 106,149,715	Y304*	probably null	Het
Chst15	A	G	7: 132,270,517	F12L	probably benign	Het
Cldn23	T	A	8: 35,825,672	I221F	probably damaging	Het
Col16a1	T	C	4: 130,052,859	F92L	unknown	Het
Col6a3	A	T	1: 90,782,335		probably benign	Het
Cyp2w1	T	A	5: 139,354,559	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,864,173	Y512C	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Eif3l	T	G	15: 79,089,525	M380R	possibly damaging	Het
Fam71a	A	C	1: 191,163,061	S462A	probably benign	Het
Fer1l5	A	T	1: 36,402,520	K605N	probably damaging	Het
Fgfbp1	T	G	5: 43,979,285	N222H	probably benign	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gabpa	A	G	16: 84,841,321		probably benign	Het
Gfi1	A	G	5: 107,725,559		probably null	Het
Ift57	A	G	16: 49,759,414	Q316R	probably benign	Het
Itga11	T	C	9: 62,755,627	F542L	probably benign	Het
Kif28	G	C	1: 179,702,419	L726V	possibly damaging	Het
Krt90	A	G	15: 101,562,800	I9T	probably benign	Het
Lefty1	A	T	1: 180,937,676	M270L	probably benign	Het
Mipol1	A	T	12: 57,457,079	E344D	probably benign	Het
Mon2	A	T	10: 123,026,308	M737K	possibly damaging	Het
Mrpl14	A	G	17: 45,698,404	N143S	probably benign	Het
Nelfcd	T	A	2: 174,426,924	H589Q	probably benign	Het
Npepps	T	C	11: 97,240,931	M366V	probably damaging	Het
Olfr1448	A	T	19: 12,920,115	S65T	probably damaging	Het
Platr25	T	A	13: 62,700,466	H194L	probably damaging	Het
Plekhg4	T	C	8: 105,375,652	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,605,529		probably benign	Het
Rarb	A	G	14: 16,435,140	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,965,103	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,137,928	P102S	probably damaging	Het
Scn10a	A	C	9: 119,630,094	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,521,826	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,995,789	I75V	probably benign	Het
Slc35f5	G	A	1: 125,562,313	A27T	probably benign	Het
Slc45a3	G	A	1: 131,977,976	V246I	probably benign	Het
Slc7a14	G	A	3: 31,224,196	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,936,440	T296A	probably benign	Het
Smyd2	G	A	1: 189,896,636	H157Y	probably damaging	Het
Spata32	T	A	11: 103,209,851	H30L	probably benign	Het
Srarp	T	C	4: 141,433,033	E163G	possibly damaging	Het
Tmed8	A	G	12: 87,174,164	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,856,549	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,247,190	R286C	unknown	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Ttn	T	C	2: 76,710,162	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931	C36*	probably null	Het
Ush2a	A	T	1: 188,906,479	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,115,686	N517S	probably damaging	Het
Zfp583	G	A	7: 6,316,628	P462S	probably damaging	Het

Other mutations in Flcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Flcn	APN	11	59795823	missense	probably damaging	1.00
IGL01890:Flcn	APN	11	59795170	missense	probably benign	0.00
IGL02486:Flcn	APN	11	59801043	nonsense	probably null
IGL02933:Flcn	APN	11	59803757	missense	probably damaging	1.00
IGL02935:Flcn	APN	11	59795236	missense	possibly damaging	0.93
IGL03246:Flcn	APN	11	59794110	missense	possibly damaging	0.82
Pansy	UTSW	11	59792659	missense	probably damaging	0.99
R0238:Flcn	UTSW	11	59801076	missense	probably benign	0.00
R0238:Flcn	UTSW	11	59801076	missense	probably benign	0.00
R0239:Flcn	UTSW	11	59801076	missense	probably benign	0.00
R0239:Flcn	UTSW	11	59801076	missense	probably benign	0.00
R0265:Flcn	UTSW	11	59795809	nonsense	probably null
R0534:Flcn	UTSW	11	59794199	splice site	probably benign
R0551:Flcn	UTSW	11	59795748	critical splice donor site	probably null
R1016:Flcn	UTSW	11	59795865	critical splice acceptor site	probably null
R1108:Flcn	UTSW	11	59801200	missense	possibly damaging	0.77
R2350:Flcn	UTSW	11	59792659	missense	probably damaging	0.99
R4158:Flcn	UTSW	11	59801121	missense	probably benign	0.26
R4367:Flcn	UTSW	11	59803784	missense	possibly damaging	0.90
R4371:Flcn	UTSW	11	59803784	missense	possibly damaging	0.90
R4612:Flcn	UTSW	11	59792687	missense	probably damaging	1.00
R4689:Flcn	UTSW	11	59801044	missense	possibly damaging	0.87
R5849:Flcn	UTSW	11	59804760	missense	probably damaging	0.99
R6007:Flcn	UTSW	11	59792622	missense	probably benign	0.08
R6433:Flcn	UTSW	11	59801082	missense	probably damaging	0.97
R6525:Flcn	UTSW	11	59794172	missense	possibly damaging	0.75
R7027:Flcn	UTSW	11	59795806	missense	probably damaging	1.00
R7632:Flcn	UTSW	11	59795799	nonsense	probably null
R8018:Flcn	UTSW	11	59794122	missense	probably damaging	0.97
R9414:Flcn	UTSW	11	59794172	missense	possibly damaging	0.75
R9453:Flcn	UTSW	11	59803783	missense	probably damaging	0.99
R9458:Flcn	UTSW	11	59799382	missense	possibly damaging	0.88
R9748:Flcn	UTSW	11	59802154	missense	probably benign	0.03
X0002:Flcn	UTSW	11	59804537	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTCACCAAGGCCCATCATG -3'
(R):5'- ATCCCCTGTAGTGGAAGACC -3'

Sequencing Primer
(F):5'- AAGGCCCATCATGCTCATTC -3'
(R):5'- ACAGAATGCTTCCTCAGTGCTGG -3'

Posted On

2021-10-11