Incidental Mutation 'R8018:Flcn'
| ID |
617224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flcn
|
| Ensembl Gene |
ENSMUSG00000032633 |
| Gene Name |
folliculin |
| Synonyms |
BHD, B430214A04Rik |
| MMRRC Submission |
067458-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8018 (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 59684948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 501
(D501G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091246]
[ENSMUST00000102697]
|
| AlphaFold |
Q8QZS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091246
AA Change: D501G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091696
Gene: ENSMUSG00000032633
AA Change: D501G
| 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: D501G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099758
Gene: ENSMUSG00000032633
AA Change: D501G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,880,991 (GRCm39) |
T146I |
unknown |
Het |
| Abca16 |
A |
G |
7: 120,132,866 (GRCm39) |
E1265G |
probably benign |
Het |
| Adar |
T |
C |
3: 89,654,882 (GRCm39) |
S924P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,814,003 (GRCm39) |
L392Q |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,771,260 (GRCm39) |
D985G |
possibly damaging |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,095 (GRCm39) |
K280R |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,598 (GRCm39) |
|
probably benign |
Het |
| Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,968 (GRCm39) |
L193P |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,166,933 (GRCm39) |
L20* |
probably null |
Het |
| Gmip |
A |
G |
8: 70,268,143 (GRCm39) |
E399G |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,184,737 (GRCm39) |
E356G |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,639 (GRCm39) |
|
probably null |
Het |
| Kcnh2 |
G |
A |
5: 24,525,014 (GRCm39) |
S1158L |
probably damaging |
Het |
| Lancl2 |
A |
G |
6: 57,690,078 (GRCm39) |
T104A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,672 (GRCm39) |
I178N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,225 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,006 (GRCm39) |
K564* |
probably null |
Het |
| Nipal3 |
C |
T |
4: 135,174,659 (GRCm39) |
R364H |
possibly damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,038 (GRCm39) |
M1V |
probably null |
Het |
| Oxa1l |
A |
G |
14: 54,600,757 (GRCm39) |
I77V |
not run |
Het |
| Phf10 |
T |
A |
17: 15,174,378 (GRCm39) |
Q233H |
possibly damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,654 (GRCm39) |
N288K |
probably benign |
Het |
| Pramel43 |
T |
C |
5: 94,761,839 (GRCm39) |
N244S |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,182,311 (GRCm39) |
D1676G |
probably damaging |
Het |
| Rapgefl1 |
T |
G |
11: 98,731,166 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
C |
T |
15: 83,001,125 (GRCm39) |
E269K |
possibly damaging |
Het |
| Ryr3 |
A |
C |
2: 112,508,777 (GRCm39) |
M3399R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,587,829 (GRCm39) |
R762L |
probably damaging |
Het |
| Smad7 |
T |
G |
18: 75,502,355 (GRCm39) |
L110R |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tcea3 |
T |
G |
4: 135,985,229 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,999,180 (GRCm39) |
V765A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,010,822 (GRCm39) |
R1130W |
probably damaging |
Het |
| Tia1 |
C |
T |
6: 86,402,034 (GRCm39) |
P189S |
probably benign |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ubxn8 |
A |
G |
8: 34,113,243 (GRCm39) |
C204R |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,810 (GRCm39) |
S135P |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,124,492 (GRCm39) |
L473H |
probably damaging |
Het |
| Zfp444 |
A |
G |
7: 6,191,142 (GRCm39) |
T108A |
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 |
|
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 |
|
|
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'- ACATTCTGCTTTGGGGCATG -3'
(R):5'- CCACAGAGTTCGTAGTTGTCGTG -3'
Sequencing Primer
(F):5'- TGAAAGCCACAGAGAGCTGCTC -3'
(R):5'- CAGTCCCTCAGCAAGTATGAGTTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation