Incidental Mutation 'IGL00573:Flcn'
| ID |
4588 |
| 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 # |
IGL00573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59686649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 368
(V368A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091246]
[ENSMUST00000102697]
|
| AlphaFold |
Q8QZS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091246
AA Change: V368A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: V368A
| 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 damaging
Transcript: ENSMUST00000102697
AA Change: V368A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: V368A
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,877,704 (GRCm39) |
D687G |
probably benign |
Het |
| Cd69 |
C |
A |
6: 129,245,283 (GRCm39) |
V140F |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,376,223 (GRCm39) |
P1437L |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,086,860 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,900,095 (GRCm39) |
Y1676F |
probably benign |
Het |
| Ctnna2 |
A |
C |
6: 76,879,264 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,161 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
T |
15: 85,111,238 (GRCm39) |
M131L |
probably benign |
Het |
| Marveld2 |
A |
T |
13: 100,734,367 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,674,732 (GRCm39) |
Y400C |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,619 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
A |
9: 72,593,338 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
C |
T |
11: 59,455,942 (GRCm39) |
H913Y |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,813,504 (GRCm39) |
E4015* |
probably null |
Het |
| Plscr1 |
C |
T |
9: 92,146,732 (GRCm39) |
L125F |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,031,838 (GRCm39) |
I326L |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,846,151 (GRCm39) |
D325G |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,009,182 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,745,389 (GRCm39) |
P215S |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,721,865 (GRCm39) |
H269L |
possibly damaging |
Het |
| Zmynd11 |
T |
G |
13: 9,739,262 (GRCm39) |
E510A |
probably damaging |
Het |
|
| Other mutations in Flcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation