Mutagenetix > Incidental Mutation

Incidental Mutation 'R9414:Flcn'

711958

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 #

R9414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59682234-59700842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59684998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 484 (N484K)

Ref Sequence

ENSEMBL: ENSMUSP00000099758 (fasta)

Gene Model

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

AlphaFold

Q8QZS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091246
AA Change: N484K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: N484K

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: N484K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: N484K

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (59/60)

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
Abca9	A	T	11: 110,035,100 (GRCm39)	I689K	probably damaging	Het
Agtpbp1	G	T	13: 59,609,902 (GRCm39)	T1076K	probably damaging	Het
Ammecr1l	A	G	18: 31,904,962 (GRCm39)	T68A	probably benign	Het
Arvcf	A	G	16: 18,215,580 (GRCm39)	E264G	probably damaging	Het
Cacna1b	C	T	2: 24,538,514 (GRCm39)	D1542N	probably damaging	Het
Cacna2d2	A	G	9: 107,392,395 (GRCm39)	T512A	probably damaging	Het
Crebbp	A	G	16: 3,925,356 (GRCm39)	C1213R	probably damaging	Het
Cybrd1	G	T	2: 70,948,567 (GRCm39)	R35L	probably damaging	Het
Dcaf1	G	A	9: 106,757,158 (GRCm39)	W1412*	probably null	Het
Eif4e	T	A	3: 138,253,495 (GRCm39)	D67E	probably benign	Het
Epb41	G	A	4: 131,702,162 (GRCm39)	T491I	probably damaging	Het
Fez1	G	A	9: 36,779,247 (GRCm39)	S308N	probably benign	Het
Fgfr3	A	G	5: 33,887,298 (GRCm39)	S206G	possibly damaging	Het
Gdap2	T	C	3: 100,090,071 (GRCm39)		probably null	Het
Gfpt1	T	A	6: 87,062,265 (GRCm39)	D541E	probably benign	Het
Gm5089	A	G	14: 122,673,604 (GRCm39)	F39S	unknown	Het
Gm7694	C	T	1: 170,130,173 (GRCm39)	G75D	probably benign	Het
Gpr15	A	G	16: 58,538,516 (GRCm39)	L191S	probably benign	Het
Hmcn1	T	G	1: 150,545,187 (GRCm39)	T2807P	probably damaging	Het
Iqgap2	T	C	13: 95,783,349 (GRCm39)	T1276A		Het
Itgae	G	T	11: 73,002,629 (GRCm39)	A129S	possibly damaging	Het
Kcns1	T	C	2: 164,010,378 (GRCm39)	E127G	probably damaging	Het
Kmt2b	T	C	7: 30,282,307 (GRCm39)	E1118G	probably damaging	Het
Lair1	T	C	7: 4,013,819 (GRCm39)	I143V	probably benign	Het
Lcmt2	T	C	2: 120,970,621 (GRCm39)	D154G	possibly damaging	Het
Ly9	T	C	1: 171,427,275 (GRCm39)	T427A	probably damaging	Het
Man2c1	A	G	9: 57,044,030 (GRCm39)	T281A	possibly damaging	Het
Map4k2	T	C	19: 6,394,515 (GRCm39)	F332L	probably benign	Het
Meak7	A	T	8: 120,495,081 (GRCm39)	S226T	probably benign	Het
Mmp10	A	T	9: 7,502,489 (GRCm39)	D32V	probably benign	Het
Mroh2a	C	T	1: 88,179,096 (GRCm39)	R1110W	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Npnt	T	C	3: 132,612,116 (GRCm39)	N300S	probably benign	Het
Or13a20	C	A	7: 140,232,263 (GRCm39)	R124S	probably damaging	Het
Or5b95	T	C	19: 12,657,712 (GRCm39)	V80A	probably benign	Het
Or5k15	G	A	16: 58,710,565 (GRCm39)	T6I	probably benign	Het
Pacsin1	T	C	17: 27,926,985 (GRCm39)	V387A	probably damaging	Het
Pald1	G	T	10: 61,178,932 (GRCm39)	A489E	probably benign	Het
Pcnx1	G	T	12: 81,964,978 (GRCm39)	G382W	probably damaging	Het
Pde6b	T	A	5: 108,567,592 (GRCm39)	M294K	possibly damaging	Het
Phf20	T	C	2: 156,136,167 (GRCm39)	V662A	probably benign	Het
Plcg1	T	C	2: 160,603,276 (GRCm39)	I1149T	possibly damaging	Het
Prdx2	T	C	8: 85,697,196 (GRCm39)	S79P	probably damaging	Het
Rab19	T	C	6: 39,360,855 (GRCm39)	M1T	probably null	Het
Retn	T	G	8: 3,706,908 (GRCm39)	F44C	probably damaging	Het
Rp1	A	T	1: 4,313,841 (GRCm39)	W507R	unknown	Het
Rsf1	A	C	7: 97,313,765 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,501,011 (GRCm39)	E3561K	possibly damaging	Het
Scaf1	T	A	7: 44,652,716 (GRCm39)	Y1220F	unknown	Het
Sowahc	A	G	10: 59,058,491 (GRCm39)	K209R	probably benign	Het
Supt20	T	A	3: 54,610,504 (GRCm39)	I103N	probably damaging	Het
Tenm4	A	G	7: 96,545,367 (GRCm39)	E2498G	probably benign	Het
Tet1	T	C	10: 62,674,935 (GRCm39)	N1047S	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tub	T	A	7: 108,626,265 (GRCm39)	I267N	probably damaging	Het
Uggt1	T	C	1: 36,223,507 (GRCm39)	E594G	probably benign	Het
Vmn2r104	T	A	17: 20,250,250 (GRCm39)	I674F	probably damaging	Het
Zbed6	T	C	1: 133,585,015 (GRCm39)	D774G	probably damaging	Het
Zcchc4	T	C	5: 52,953,964 (GRCm39)	S215P	probably benign	Het
Zfc3h1	T	G	10: 115,249,916 (GRCm39)	S1177A	possibly damaging	Het
Zfp646	G	A	7: 127,481,050 (GRCm39)	A1076T	probably damaging	Het
Zfp735	T	A	11: 73,602,023 (GRCm39)	Y322*	probably null	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
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'- AAAGCCACAGAGAGCTGCTC -3'
(R):5'- TTGCCACAGAGTTCGTAGTTG -3'

Sequencing Primer
(F):5'- GAGAGCTGCTCTACCCCTTG -3'
(R):5'- CCACAGAGTTCGTAGTTGTCGTG -3'

Posted On

2022-05-16