Incidental Mutation 'R4367:Flcn'
ID |
325820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flcn
|
Ensembl Gene |
ENSMUSG00000032633 |
Gene Name |
folliculin |
Synonyms |
BHD, B430214A04Rik |
MMRRC Submission |
041673-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59694610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 121
(V121I)
|
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: V121I
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091696 Gene: ENSMUSG00000032633 AA Change: V121I
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: V121I
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099758 Gene: ENSMUSG00000032633 AA Change: V121I
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
|
Meta Mutation Damage Score |
0.0665 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
98% (54/55) |
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 |
Adrb2 |
T |
C |
18: 62,312,127 (GRCm39) |
I233V |
probably damaging |
Het |
Alox5 |
T |
A |
6: 116,437,924 (GRCm39) |
Y21F |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,739,798 (GRCm39) |
T1942A |
probably benign |
Het |
Aoc1l1 |
T |
C |
6: 48,953,064 (GRCm39) |
S330P |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,880,671 (GRCm39) |
H432R |
probably benign |
Het |
Cttnbp2 |
A |
C |
6: 18,405,248 (GRCm39) |
C574G |
probably damaging |
Het |
Cyp1a1 |
T |
C |
9: 57,607,432 (GRCm39) |
V20A |
probably benign |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,126,467 (GRCm39) |
S1287P |
possibly damaging |
Het |
Dnttip2 |
T |
C |
3: 122,070,146 (GRCm39) |
S454P |
probably damaging |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
G |
C |
1: 162,661,217 (GRCm39) |
Y355* |
probably null |
Het |
Git2 |
T |
A |
5: 114,902,727 (GRCm39) |
H138L |
probably damaging |
Het |
Gpr162 |
G |
A |
6: 124,838,658 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,797,638 (GRCm39) |
I881T |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,646,747 (GRCm39) |
C1754S |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,914,246 (GRCm39) |
D116E |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,036,747 (GRCm39) |
D985G |
probably damaging |
Het |
Necap1 |
T |
C |
6: 122,864,337 (GRCm39) |
V273A |
probably damaging |
Het |
Nlrc5 |
T |
C |
8: 95,203,192 (GRCm39) |
S431P |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,623,920 (GRCm39) |
T206S |
probably benign |
Het |
Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Or8g19 |
G |
A |
9: 39,055,725 (GRCm39) |
A110T |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,853,897 (GRCm39) |
R89H |
probably benign |
Het |
Prpf38b |
T |
C |
3: 108,818,487 (GRCm39) |
Y91C |
probably damaging |
Het |
Radil |
C |
T |
5: 142,480,560 (GRCm39) |
A632T |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Specc1 |
T |
C |
11: 62,009,356 (GRCm39) |
S371P |
probably damaging |
Het |
Suco |
T |
C |
1: 161,674,799 (GRCm39) |
E416G |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
Tcirg1 |
C |
T |
19: 3,949,069 (GRCm39) |
D407N |
probably damaging |
Het |
Tefm |
G |
T |
11: 80,031,156 (GRCm39) |
L27I |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,225 (GRCm39) |
I1845T |
probably benign |
Het |
Tfam |
A |
T |
10: 71,069,233 (GRCm39) |
I119N |
probably damaging |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,804,889 (GRCm39) |
I947T |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,611,202 (GRCm39) |
T1205A |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,496 (GRCm39) |
R454G |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,217,781 (GRCm39) |
V477A |
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 |
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'- CAGAGACATGTTCGTCAAGAATG -3'
(R):5'- TCTGTAGATGTGCTGCCTGC -3'
Sequencing Primer
(F):5'- CTATTTAGACAGCTGGAGTCCACAG -3'
(R):5'- GCCTGCTTCTGCCTAAGAG -3'
|
Posted On |
2015-07-06 |