Incidental Mutation 'R6433:Flcn'
| ID |
518651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flcn
|
| Ensembl Gene |
ENSMUSG00000032633 |
| Gene Name |
folliculin |
| Synonyms |
BHD, B430214A04Rik |
| MMRRC Submission |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59691908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 247
(D247G)
|
| 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 damaging
Transcript: ENSMUST00000091246
AA Change: D247G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: D247G
| 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: D247G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: D247G
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
| Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
| Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
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 |
|
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 |
|
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'- AAGTGTCTCCATCCGGTGAG -3'
(R):5'- TAGACTGCTGCCAAGAGAGC -3'
Sequencing Primer
(F):5'- TCCGGTGAGGAGACAGAC -3'
(R):5'- GGTGGCAGTAAGGCTCG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation