Incidental Mutation 'IGL03246:Flcn'
| ID |
414417 |
| 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 # |
IGL03246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59684936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 505
(I505N)
|
| 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: I505N
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: I505N
| 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: I505N
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: I505N
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,238 (GRCm39) |
H392Q |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,076,841 (GRCm39) |
I547L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,855 (GRCm39) |
H52R |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,433,842 (GRCm39) |
I979L |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,156 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,206,241 (GRCm39) |
P385T |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,848 (GRCm39) |
M299I |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,663,455 (GRCm39) |
T1011I |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,060 (GRCm39) |
D151G |
probably benign |
Het |
| Klk13 |
T |
A |
7: 43,370,422 (GRCm39) |
N28K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,420 (GRCm39) |
V396A |
probably benign |
Het |
| Mageb11 |
C |
A |
X: 89,936,008 (GRCm39) |
H87Q |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,563,948 (GRCm39) |
I360K |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,459,792 (GRCm39) |
I251T |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,296,395 (GRCm39) |
I85K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,919 (GRCm39) |
C311R |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,832,506 (GRCm39) |
M1490L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,631 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,507,485 (GRCm39) |
K357R |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,581,530 (GRCm39) |
T601I |
probably benign |
Het |
| Pof1b |
A |
T |
X: 111,557,817 (GRCm39) |
N366K |
probably benign |
Het |
| Prr9 |
A |
G |
3: 92,030,286 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,986,159 (GRCm39) |
A320S |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,342,490 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Rnf13 |
A |
G |
3: 57,676,471 (GRCm39) |
E42G |
probably damaging |
Het |
| Sdf4 |
T |
C |
4: 156,085,154 (GRCm39) |
V163A |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,440,301 (GRCm39) |
Q16* |
probably null |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,119 (GRCm39) |
R85* |
probably null |
Het |
| Tbck |
T |
A |
3: 132,480,331 (GRCm39) |
C737S |
probably benign |
Het |
| Tra2a |
A |
T |
6: 49,226,019 (GRCm39) |
Y140* |
probably null |
Het |
| Vcpip1 |
A |
C |
1: 9,816,182 (GRCm39) |
L734V |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,866,288 (GRCm39) |
|
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation