Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Flcn'

453787

Institutional Source

Beutler Lab

Gene Symbol

Flcn

Ensembl Gene

ENSMUSG00000032633

Gene Name

folliculin

Synonyms

BHD, B430214A04Rik

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59682234-59700842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59695586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 4 (I4L)

Ref Sequence

ENSEMBL: ENSMUSP00000037675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047706] [ENSMUST00000091246] [ENSMUST00000102697]

AlphaFold

Q8QZS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047706
AA Change: I4L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037675
Gene: ENSMUSG00000032633
AA Change: I4L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091246
AA Change: I4L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: I4L

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: I4L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: I4L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151453

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	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
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
R9748:Flcn	UTSW	11	59,692,980 (GRCm39)	missense	probably benign	0.03
X0002:Flcn	UTSW	11	59,695,363 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACATGTCCGACTTCTTGGG -3'
(R):5'- CTTGATGTAGCAACTGTTCCAC -3'

Sequencing Primer
(F):5'- TGGACTCACTGCTGGCAC -3'
(R):5'- TGTTCCACAGCGGGTGC -3'

Posted On

2017-02-10