Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Flcn'

518651

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 #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59791408-59810016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59801082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 247 (D247G)

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

Domain	Start	End	E-Value	Type
low complexity region	62	79	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091246
AA Change: D247G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: D247G

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

probably damaging
Transcript: ENSMUST00000102697
AA Change: D247G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: D247G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148151

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,881,299	D1016E	probably damaging	Het
Aplnr	A	T	2: 85,136,673	Q14L	probably benign	Het
Aspm	T	C	1: 139,473,683	L1147S	probably damaging	Het
Atad2b	A	G	12: 4,952,642	T337A	possibly damaging	Het
Atrn	A	G	2: 131,023,027	E1358G	probably damaging	Het
Caml	C	A	13: 55,623,249	S53R	possibly damaging	Het
Cd180	T	G	13: 102,705,633	S396A	probably benign	Het
Cdhr2	A	G	13: 54,718,512	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,570,269	D224A	probably damaging	Het
Dhx36	T	C	3: 62,484,974	T544A	probably damaging	Het
Dnah14	A	G	1: 181,651,657	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,315,378	K199N	probably benign	Het
Dsc2	C	T	18: 20,051,175		probably null	Het
Efl1	T	A	7: 82,674,568	D239E	probably damaging	Het
Elovl4	A	G	9: 83,785,178	V42A	possibly damaging	Het
Exoc3	T	C	13: 74,189,187	T432A	possibly damaging	Het
Fam98c	A	G	7: 29,156,128		probably null	Het
Fbln2	G	A	6: 91,233,272	G66D	probably damaging	Het
Fchsd1	G	A	18: 37,964,084	T410I	possibly damaging	Het
Galnt16	T	C	12: 80,575,903	V127A	probably benign	Het
H2-Ob	A	T	17: 34,243,886		probably null	Het
Has2	G	A	15: 56,667,798	S507F	possibly damaging	Het
Ido2	T	A	8: 24,533,923	M300L	probably damaging	Het
Itga10	T	C	3: 96,658,041		probably null	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,950,457	V299A	probably benign	Het
Mybpc1	T	C	10: 88,560,355	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,933,872	M128K	probably damaging	Het
Obscn	T	A	11: 59,051,558	T5091S	probably benign	Het
Olfr137	A	G	17: 38,305,413	L16P	probably damaging	Het
Pex5	A	T	6: 124,413,613	M91K	possibly damaging	Het
Phlpp2	G	T	8: 109,934,685	A810S	probably benign	Het
Pla2g7	G	C	17: 43,599,126	A174P	probably damaging	Het
Plxna4	C	T	6: 32,215,678	V783M	probably damaging	Het
Poll	A	T	19: 45,553,604	M421K	probably benign	Het
Ppfia2	C	A	10: 106,913,698	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,781,346	F280S	probably benign	Het
Rdh10	G	A	1: 16,107,855	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,595,196	A70S	unknown	Het
Scgb2b3	A	T	7: 31,359,067	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,706,597	R749G	probably damaging	Het
Skint4	A	G	4: 112,146,510	K380R	probably benign	Het
Smtnl1	A	C	2: 84,818,368	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,717,185	S716P	probably damaging	Het
Spc25	A	G	2: 69,206,102		probably benign	Het
Stab2	C	T	10: 86,901,567		probably null	Het
Timm22	T	C	11: 76,409,744	V114A	possibly damaging	Het
Timp4	A	G	6: 115,247,220	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548	N480K	possibly damaging	Het
Tpo	T	C	12: 30,084,754	E735G	probably benign	Het
Trpm3	A	G	19: 22,901,305	D692G	probably damaging	Het
Ttn	T	C	2: 76,751,714	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,547,380	Y499*	probably null	Het
Vwa1	G	A	4: 155,772,769	H191Y	probably benign	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
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
R9011:Flcn	UTSW	11	59799407	missense	possibly damaging	0.82
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'- AAGTGTCTCCATCCGGTGAG -3'
(R):5'- TAGACTGCTGCCAAGAGAGC -3'

Sequencing Primer
(F):5'- TCCGGTGAGGAGACAGAC -3'
(R):5'- GGTGGCAGTAAGGCTCG -3'

Posted On

2018-05-24