Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Flcn'

344856

Institutional Source

Beutler Lab

Gene Symbol

Flcn

Ensembl Gene

ENSMUSG00000032633

Gene Name

folliculin

Synonyms

B430214A04Rik, BHD

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59791408-59810016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59792687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 555 (T555A)

Ref Sequence

ENSEMBL: ENSMUSP00000099758 (fasta)

Gene Model

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

AlphaFold

Q8QZS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000091246
AA Change: T555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: T555A

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: T555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: T555A

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: ENSMUST00000148151

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,476	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,377,980	M1K	probably null	Het
Abca15	A	G	7: 120,335,161	D120G	probably benign	Het
Adam26a	A	T	8: 43,568,793	N553K	probably damaging	Het
Adam32	A	T	8: 24,872,736	C558S	probably damaging	Het
Adam39	A	T	8: 40,825,921	S450C	probably damaging	Het
Agap2	A	T	10: 127,080,096	T159S	unknown	Het
Ahnak	G	A	19: 9,003,724	V791I	probably benign	Het
Ak7	T	G	12: 105,761,513	L468R	probably damaging	Het
Akap12	A	G	10: 4,354,456	D422G	probably damaging	Het
Antxr1	T	A	6: 87,288,173	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,259,479	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,241,563	E322D	probably benign	Het
Atg4b	T	C	1: 93,786,541	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,612	K127R	probably damaging	Het
Atxn1l	C	T	8: 109,732,104	V509M	possibly damaging	Het
B3glct	T	A	5: 149,739,557	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,996,585	P70L	probably damaging	Het
Bok	T	A	1: 93,694,178	F157L	probably damaging	Het
Bves	G	A	10: 45,339,277	G16D	probably benign	Het
Cacna1b	T	A	2: 24,626,852	K65*	probably null	Het
Casc3	A	G	11: 98,822,958	T339A	probably benign	Het
Ccdc18	C	T	5: 108,135,441	S6L	probably benign	Het
Cd86	A	G	16: 36,615,330	Y242H	probably benign	Het
Chd3	A	C	11: 69,353,209	Y1249*	probably null	Het
Chrne	T	C	11: 70,617,022	T284A	probably damaging	Het
Col12a1	T	C	9: 79,616,057	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,678,474	M72K	probably benign	Het
Csmd1	G	T	8: 15,921,908		probably null	Het
Det1	A	T	7: 78,843,706	N183K	probably damaging	Het
Dis3	C	A	14: 99,091,435	V294L	probably benign	Het
Dnah2	G	A	11: 69,483,367	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dsg4	T	A	18: 20,462,413	S558T	probably benign	Het
Dzip3	A	T	16: 48,952,040	L422*	probably null	Het
Elp6	T	C	9: 110,314,019	F100S	probably damaging	Het
Epg5	C	T	18: 77,982,414	T1224I	possibly damaging	Het
F830016B08Rik	T	A	18: 60,301,015	I390N	probably benign	Het
Fam110c	A	G	12: 31,074,656	T206A	unknown	Het
Fam160a1	G	A	3: 85,730,372	R207*	probably null	Het
Fam187b	G	A	7: 30,977,093	G9D	possibly damaging	Het
Fat1	A	G	8: 45,025,147	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,238,559	F390Y	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Foxq1	G	T	13: 31,558,825		probably benign	Het
Gm3233	A	T	10: 77,759,664		probably benign	Het
Gm5346	A	T	8: 43,626,550	F212L	probably benign	Het
Gm7271	A	T	5: 76,516,498	N145Y	probably damaging	Het
Gprc5a	G	A	6: 135,078,929	V125I	probably damaging	Het
Gria2	T	C	3: 80,732,051	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,579,584	A103T	probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,539,575	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,772,597	E188*	probably null	Het
Ifna13	T	G	4: 88,643,876	E170D	probably damaging	Het
Il4ra	A	G	7: 125,576,083	T488A	probably benign	Het
Jup	G	T	11: 100,381,834	H251N	probably damaging	Het
Kif21a	A	T	15: 90,968,223		probably null	Het
Klhl28	T	A	12: 64,957,260	I160L	probably damaging	Het
Klk5	A	T	7: 43,845,272	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,812,643	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,462,783	I844M	probably damaging	Het
Lrp2	C	T	2: 69,458,427	W3698*	probably null	Het
Lyar	T	A	5: 38,224,709	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,815,300	K1507E	probably benign	Het
Mre11a	G	A	9: 14,802,903	G267R	probably damaging	Het
Mthfd1l	A	G	10: 4,030,717	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,349	E29V	probably benign	Het
Neb	T	C	2: 52,287,243	D1362G	probably damaging	Het
Nme2	T	C	11: 93,955,602	T7A	possibly damaging	Het
Nod2	T	A	8: 88,665,036	L657Q	possibly damaging	Het
Nrm	T	A	17: 35,863,529	V75E	probably benign	Het
Ogfod1	A	C	8: 94,037,347	K20T	possibly damaging	Het
Olfr197	T	C	16: 59,186,311	I57M	probably damaging	Het
Olfr294	T	A	7: 86,615,736	Q303L	probably benign	Het
Olfr63	T	A	17: 33,269,480	V252E	probably benign	Het
Omp	T	C	7: 98,145,141	N93S	probably damaging	Het
Pcdhb15	A	C	18: 37,475,595	T627P	probably damaging	Het
Pld1	A	G	3: 28,131,733	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,398,765	E606*	probably null	Het
Ppp1r10	T	A	17: 35,927,931	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,632,079	C339R	possibly damaging	Het
Psd	T	A	19: 46,313,339	D937V	probably benign	Het
Rbak	T	C	5: 143,174,467	Q277R	probably benign	Het
Sbno1	T	A	5: 124,404,024	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,750,502	Q201*	probably null	Het
Serpinb3a	T	C	1: 107,047,607	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,101,406	N306K	probably damaging	Het
Smarca2	C	A	19: 26,776,225	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,447,495	Q530K	probably damaging	Het
Stard10	C	A	7: 101,345,670	Q278K	possibly damaging	Het
Tgm2	C	T	2: 158,124,204	C510Y	probably benign	Het
Tlr9	C	T	9: 106,223,807	P99L	probably damaging	Het
Tmco4	T	C	4: 138,990,560	W4R	probably benign	Het
Tmem151a	T	A	19: 5,071,834		probably benign	Het
Tmem255b	T	C	8: 13,454,228	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,534,016		probably benign	Het
Trpm2	T	C	10: 77,945,916	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,419,005	E120K	possibly damaging	Het
Ttc29	A	G	8: 78,325,546	D352G	probably benign	Het
Usp25	A	T	16: 77,033,945	I30F	possibly damaging	Het
Usp34	A	C	11: 23,432,268	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,063,022	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,166,870	T157K	probably benign	Het
Vstm5	A	T	9: 15,257,493	I118F	probably benign	Het
Vwa7	T	C	17: 35,023,450	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,397,063	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,018,948	N408Y	probably benign	Het
Zswim5	C	T	4: 116,986,704	H980Y	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
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
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'- TCCCCTACATTTCAACATGGGC -3'
(R):5'- GAGAGCTTGACTGGACTGTG -3'

Sequencing Primer
(F):5'- CCCTACATTTCAACATGGGCTGATAG -3'
(R):5'- ACTGGACTGTGGGCCTGAG -3'

Posted On

2015-09-25