Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Flcn'

685645

Institutional Source

Beutler Lab

Gene Symbol

Flcn

Ensembl Gene

ENSMUSG00000032633

Gene Name

folliculin

Synonyms

BHD, B430214A04Rik

MMRRC Submission

068841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59682234-59700842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59690233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000091696 (fasta)

Gene Model

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

AlphaFold

Q8QZS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091246
AA Change: L273P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: L273P

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: L273P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: L273P

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

Meta Mutation Damage Score

0.6282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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
Actr10	A	G	12: 70,999,734 (GRCm39)	T177A	probably benign	Het
Adgrb2	G	A	4: 129,916,111 (GRCm39)	D1468N	probably damaging	Het
Aldh16a1	A	G	7: 44,794,951 (GRCm39)	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,417,444 (GRCm39)	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,114,756 (GRCm39)	S97G	probably benign	Het
Cacna1g	C	T	11: 94,306,663 (GRCm39)	G1905D	probably benign	Het
Ccdc192	A	T	18: 57,800,376 (GRCm39)	I176F	possibly damaging	Het
Ccne1	A	T	7: 37,806,085 (GRCm39)	M13K	probably benign	Het
Chil3	A	T	3: 106,057,031 (GRCm39)	Y304*	probably null	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Cldn23	T	A	8: 36,292,826 (GRCm39)	I221F	probably damaging	Het
Col16a1	T	C	4: 129,946,652 (GRCm39)	F92L	unknown	Het
Col6a3	A	T	1: 90,710,057 (GRCm39)		probably benign	Het
Cyp2w1	T	A	5: 139,340,314 (GRCm39)	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,997,240 (GRCm39)	Y512C	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif3l	T	G	15: 78,973,725 (GRCm39)	M380R	possibly damaging	Het
Fer1l5	A	T	1: 36,441,601 (GRCm39)	K605N	probably damaging	Het
Fgfbp1	T	G	5: 44,136,627 (GRCm39)	N222H	probably benign	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gabpa	A	G	16: 84,638,209 (GRCm39)		probably benign	Het
Garin4	A	C	1: 190,895,258 (GRCm39)	S462A	probably benign	Het
Gfi1	A	G	5: 107,873,425 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,579,777 (GRCm39)	Q316R	probably benign	Het
Itga11	T	C	9: 62,662,909 (GRCm39)	F542L	probably benign	Het
Kif28	G	C	1: 179,529,984 (GRCm39)	L726V	possibly damaging	Het
Krt90	A	G	15: 101,471,235 (GRCm39)	I9T	probably benign	Het
Lefty1	A	T	1: 180,765,241 (GRCm39)	M270L	probably benign	Het
Mipol1	A	T	12: 57,503,865 (GRCm39)	E344D	probably benign	Het
Mon2	A	T	10: 122,862,213 (GRCm39)	M737K	possibly damaging	Het
Mrpl14	A	G	17: 46,009,330 (GRCm39)	N143S	probably benign	Het
Nelfcd	T	A	2: 174,268,717 (GRCm39)	H589Q	probably benign	Het
Npepps	T	C	11: 97,131,757 (GRCm39)	M366V	probably damaging	Het
Or5b12	A	T	19: 12,897,479 (GRCm39)	S65T	probably damaging	Het
Platr25	T	A	13: 62,848,280 (GRCm39)	H194L	probably damaging	Het
Plekhg4	T	C	8: 106,102,284 (GRCm39)	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,652,314 (GRCm39)		probably benign	Het
Rarb	A	G	14: 16,435,140 (GRCm38)	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,792,673 (GRCm39)	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,356,760 (GRCm39)	P102S	probably damaging	Het
Scn10a	A	C	9: 119,459,160 (GRCm39)	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,352,170 (GRCm39)	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,923,519 (GRCm39)	I75V	probably benign	Het
Slc35f5	G	A	1: 125,490,050 (GRCm39)	A27T	probably benign	Het
Slc45a3	G	A	1: 131,905,714 (GRCm39)	V246I	probably benign	Het
Slc7a14	G	A	3: 31,278,345 (GRCm39)	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,818,493 (GRCm39)	T296A	probably benign	Het
Smyd2	G	A	1: 189,628,833 (GRCm39)	H157Y	probably damaging	Het
Spata32	T	A	11: 103,100,677 (GRCm39)	H30L	probably benign	Het
Srarp	T	C	4: 141,160,344 (GRCm39)	E163G	possibly damaging	Het
Tcstv2a	A	G	13: 120,725,746 (GRCm39)	T137A	probably damaging	Het
Tmed8	A	G	12: 87,220,938 (GRCm39)	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,562,186 (GRCm39)	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,065,940 (GRCm39)	R286C	unknown	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Ttn	T	C	2: 76,540,506 (GRCm39)	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931 (GRCm39)	C36*	probably null	Het
Ush2a	A	T	1: 188,638,676 (GRCm39)	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978 (GRCm39)	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,154,767 (GRCm39)	N517S	probably damaging	Het
Zfp583	G	A	7: 6,319,627 (GRCm39)	P462S	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
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'- TTGTCACCAAGGCCCATCATG -3'
(R):5'- ATCCCCTGTAGTGGAAGACC -3'

Sequencing Primer
(F):5'- AAGGCCCATCATGCTCATTC -3'
(R):5'- ACAGAATGCTTCCTCAGTGCTGG -3'

Posted On

2021-10-11