Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Flcn'

732340

Institutional Source

Beutler Lab

Gene Symbol

Flcn

Ensembl Gene

ENSMUSG00000032633

Gene Name

folliculin

Synonyms

BHD, B430214A04Rik

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

59682234-59700842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59692980 bp (GRCm39)

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: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,461 (GRCm39)	L494M	probably damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,151,926 (GRCm39)	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prkcd	A	T	14: 30,320,800 (GRCm39)	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tulp4	T	C	17: 6,291,480 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,142,072 (GRCm39)	S163P	possibly damaging	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	probably damaging	Het

Other mutations in Flcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
X0002:Flcn	UTSW	11	59,695,363 (GRCm39)	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