Incidental Mutation 'R1108:Flcn'
| ID |
98566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flcn
|
| Ensembl Gene |
ENSMUSG00000032633 |
| Gene Name |
folliculin |
| Synonyms |
BHD, B430214A04Rik |
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1108 (G1)
|
| Quality Score |
166 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59692026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 208
(F208L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000091246
AA Change: F208L
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: F208L
| 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: F208L
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: F208L
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Esrrb |
G |
A |
12: 86,552,604 (GRCm39) |
R182Q |
probably damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or7e174 |
A |
C |
9: 20,012,121 (GRCm39) |
D22A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACAAGAGAACTCTCTGCGTTGG -3'
(R):5'- AACCGCTGAGGAGCAGTTAGTCAC -3'
Sequencing Primer
(F):5'- TCTAATGGCTCACAGGTGTCAAG -3'
(R):5'- TGTCCATCACCTGCAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation