Incidental Mutation 'R1016:Flcn'
ID |
96342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flcn
|
Ensembl Gene |
ENSMUSG00000032633 |
Gene Name |
folliculin |
Synonyms |
BHD, B430214A04Rik |
MMRRC Submission |
039120-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1016 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 59686691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091246]
[ENSMUST00000091246]
[ENSMUST00000102697]
[ENSMUST00000102697]
|
AlphaFold |
Q8QZS3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000091246
|
SMART Domains |
Protein: ENSMUSP00000091696 Gene: ENSMUSG00000032633
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 null
Transcript: ENSMUST00000091246
|
SMART Domains |
Protein: ENSMUSP00000091696 Gene: ENSMUSG00000032633
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 null
Transcript: ENSMUST00000102697
|
SMART Domains |
Protein: ENSMUSP00000099758 Gene: ENSMUSG00000032633
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 |
probably null
Transcript: ENSMUST00000102697
|
SMART Domains |
Protein: ENSMUSP00000099758 Gene: ENSMUSG00000032633
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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCCTTCCATGAGTGTCAATGCC -3'
(R):5'- AGCCTCTAGCAGGTCACCAGTATC -3'
Sequencing Primer
(F):5'- GAAAACCAGTTTCTGAGGTTCTGC -3'
(R):5'- GGTCACCAGTATCCCTAGAAGG -3'
|
Posted On |
2014-01-05 |