Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Flcn'

732340

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 #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59791408-59810016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59802154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 198 (S198N)

Ref Sequence

ENSEMBL: ENSMUSP00000091696 (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 benign
Transcript: ENSMUST00000091246
AA Change: S198N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: S198N

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 benign
Transcript: ENSMUST00000102697
AA Change: S198N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: S198N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,811,052	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,542	V962I	probably damaging	Het
Ano3	T	A	2: 110,658,295	I931F	probably damaging	Het
Arih1	T	G	9: 59,393,298	D555A	possibly damaging	Het
Arsg	A	G	11: 109,490,626	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,528,573	T567I	probably damaging	Het
Camkk2	G	C	5: 122,734,119	R575G	probably benign	Het
Ccdc88b	G	T	19: 6,854,093	L494M	probably damaging	Het
Cdc7	A	G	5: 106,975,539	K317E	possibly damaging	Het
Cfh	A	G	1: 140,162,949		probably null	Het
Cp	T	G	3: 19,989,171	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,174,526	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216	E352V	probably damaging	Het
Dnah9	T	A	11: 66,085,464	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,539,704	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,116,196	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,882,213	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,417,249	C256S	probably benign	Het
Eif5b	A	G	1: 38,051,160	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,620,353	M34L	probably benign	Het
Fcrl5	T	G	3: 87,457,162	C549W	possibly damaging	Het
Fhod1	G	A	8: 105,331,691	A811V	probably damaging	Het
Fndc1	T	A	17: 7,773,097	H589L	unknown	Het
Gm10696	G	A	3: 94,175,848	H219Y	probably damaging	Het
Gm13103	A	G	4: 143,853,322	*492W	probably null	Het
Gm36079	T	A	13: 120,026,664	E116D	possibly damaging	Het
Gm8108	G	T	14: 4,110,527		probably benign	Het
Gm8251	G	T	1: 44,056,664	S1758Y	possibly damaging	Het
Hcn4	C	T	9: 58,823,713	R68W	unknown	Het
Igfn1	A	G	1: 135,998,598	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,310,336	T351A	probably benign	Het
Ildr2	T	C	1: 166,269,320	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,274,875	C60Y	probably damaging	Het
Jrk	A	G	15: 74,707,376	L20P	probably damaging	Het
Kif5c	C	T	2: 49,694,847	A194V	probably damaging	Het
Lrp4	C	T	2: 91,485,771	L745F	probably damaging	Het
Ly9	A	T	1: 171,601,154	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,592,577	T185I	possibly damaging	Het
Mprip	A	G	11: 59,765,522	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,469,582	H150Q	possibly damaging	Het
Mturn	A	T	6: 54,689,004		probably null	Het
Myo5a	T	C	9: 75,184,683	S1205P	probably damaging	Het
Nckap5	G	A	1: 126,026,202	P871L	probably damaging	Het
Ndst3	T	A	3: 123,627,982	I401F	probably benign	Het
Nek4	G	A	14: 30,987,157	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,676,323	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538	Y70C	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Oas1h	A	T	5: 120,867,025	N179Y	probably damaging	Het
Olfr108	T	G	17: 37,445,704	V61G	probably benign	Het
Olfr887	T	A	9: 38,085,057	S74T	probably benign	Het
Otof	T	C	5: 30,383,654	D847G	probably damaging	Het
Pak1	C	A	7: 97,898,635	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 109,646,923	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,820,670	T355K	possibly damaging	Het
Prkcd	A	T	14: 30,598,843	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,707,866	S775P	unknown	Het
Prss16	G	T	13: 22,008,334	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,945,952	D56G	possibly damaging	Het
Rapsn	C	T	2: 91,045,478	P400L	probably damaging	Het
Rptn	A	G	3: 93,397,454	D698G	possibly damaging	Het
Rragc	T	C	4: 123,924,865	V291A	possibly damaging	Het
Rras2	A	G	7: 114,117,394		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Scyl2	A	C	10: 89,640,932	M777R	probably benign	Het
Serhl	G	T	15: 83,114,396	V235L	probably benign	Het
Sh2b3	T	C	5: 121,817,811	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,268,654	M570V	probably benign	Het
Slamf8	C	T	1: 172,584,233	V232M	probably benign	Het
Slc6a21	T	A	7: 45,280,517	L143Q	probably damaging	Het
Snx9	T	A	17: 5,899,395	D123E	probably benign	Het
Soga3	A	T	10: 29,148,402	D438V	probably damaging	Het
Supt6	C	A	11: 78,217,941	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,383,511	E379D	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tg	A	G	15: 66,847,159	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,511,165	T1335I	probably benign	Het
Tmem154	T	A	3: 84,666,386	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,283,673	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,649,758	L365P	probably damaging	Het
Tulp4	T	C	17: 6,241,205		probably null	Het
Tyr	A	G	7: 87,492,864	S163P	possibly damaging	Het
Usp42	A	T	5: 143,727,778		probably null	Het
Vmn2r94	A	G	17: 18,243,727	M767T	probably benign	Het
Wasl	A	G	6: 24,619,534	V329A	unknown	Het
Wdr62	T	A	7: 30,254,041	M635L	possibly damaging	Het
Wee1	G	T	7: 110,122,515	E56*	probably null	Het
Zc3h12c	C	T	9: 52,143,931	G193S	probably damaging	Het
Zfp236	T	A	18: 82,618,883	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,935,326	Y319C	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
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
X0002:Flcn	UTSW	11	59804537	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAAGGCAACAGGCTGAATG -3'
(R):5'- CCATCTTCTTTGGTGATGAGCAG -3'

Sequencing Primer
(F):5'- ACCAGGAGTCACAGGTTGGC -3'
(R):5'- ATGAGCAGCACGGCTTTG -3'

Posted On

2022-11-14