Incidental Mutation 'IGL02486:Flcn'
ID |
295435 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Flcn
|
Ensembl Gene |
ENSMUSG00000032633 |
Gene Name |
folliculin |
Synonyms |
BHD, B430214A04Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02486
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 59691869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 260
(W260*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099758
(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 null
Transcript: ENSMUST00000091246
AA Change: W260*
|
SMART Domains |
Protein: ENSMUSP00000091696 Gene: ENSMUSG00000032633 AA Change: W260*
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 null
Transcript: ENSMUST00000102697
AA Change: W260*
|
SMART Domains |
Protein: ENSMUSP00000099758 Gene: ENSMUSG00000032633 AA Change: W260*
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
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,476,419 (GRCm39) |
P900H |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,934,097 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,992 (GRCm39) |
R31G |
probably damaging |
Het |
Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,925,844 (GRCm39) |
V603A |
possibly damaging |
Het |
Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tnks |
T |
A |
8: 35,318,352 (GRCm39) |
N841I |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |