Incidental Mutation 'R6007:Flcn'
ID |
479542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flcn
|
Ensembl Gene |
ENSMUSG00000032633 |
Gene Name |
folliculin |
Synonyms |
BHD, B430214A04Rik |
MMRRC Submission |
044184-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6007 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59682234-59700842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59683448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 576
(E576D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091246]
[ENSMUST00000102697]
[ENSMUST00000125307]
|
AlphaFold |
Q8QZS3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000051493
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091246
AA Change: E576D
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000091696 Gene: ENSMUSG00000032633 AA Change: E576D
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 benign
Transcript: ENSMUST00000102697
AA Change: E576D
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099758 Gene: ENSMUSG00000032633 AA Change: E576D
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 benign
Transcript: ENSMUST00000125307
|
SMART Domains |
Protein: ENSMUSP00000115503 Gene: ENSMUSG00000043648
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
52 |
95 |
N/A |
INTRINSIC |
PLDc
|
148 |
175 |
2.79e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148151
|
Meta Mutation Damage Score |
0.0650 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
G |
T |
6: 83,137,900 (GRCm39) |
A9S |
possibly damaging |
Het |
4930407I10Rik |
C |
G |
15: 81,946,940 (GRCm39) |
T279S |
probably benign |
Het |
A830018L16Rik |
A |
G |
1: 11,582,140 (GRCm39) |
|
probably null |
Het |
Abcg5 |
T |
G |
17: 84,976,392 (GRCm39) |
I482L |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,748,462 (GRCm39) |
D44E |
probably damaging |
Het |
Amh |
A |
G |
10: 80,641,305 (GRCm39) |
N75S |
probably benign |
Het |
Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
T |
C |
2: 153,784,480 (GRCm39) |
Y63H |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,463,878 (GRCm39) |
E1449V |
probably null |
Het |
Chml |
A |
G |
1: 175,515,594 (GRCm39) |
V109A |
probably benign |
Het |
Crybg3 |
G |
T |
16: 59,374,837 (GRCm39) |
S2139* |
probably null |
Het |
Cyp2c68 |
T |
C |
19: 39,722,780 (GRCm39) |
D256G |
probably damaging |
Het |
Dchs2 |
G |
T |
3: 83,253,534 (GRCm39) |
V2315L |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,590,736 (GRCm39) |
I227V |
possibly damaging |
Het |
Drg2 |
T |
C |
11: 60,353,451 (GRCm39) |
V266A |
possibly damaging |
Het |
Fstl5 |
T |
A |
3: 76,317,899 (GRCm39) |
D188E |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,639,323 (GRCm39) |
Q471R |
probably benign |
Het |
Gm43772 |
T |
C |
5: 66,332,334 (GRCm39) |
|
probably benign |
Het |
Gpc6 |
C |
T |
14: 118,188,673 (GRCm39) |
H436Y |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,226,628 (GRCm39) |
C1842* |
probably null |
Het |
Ints8 |
G |
A |
4: 11,208,845 (GRCm39) |
T934I |
possibly damaging |
Het |
Iqsec1 |
G |
T |
6: 90,637,969 (GRCm39) |
C1050* |
probably null |
Het |
Larp4b |
T |
C |
13: 9,218,793 (GRCm39) |
V510A |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,723,933 (GRCm39) |
D305V |
possibly damaging |
Het |
Mc5r |
A |
T |
18: 68,472,318 (GRCm39) |
I226F |
possibly damaging |
Het |
Mme |
G |
A |
3: 63,250,929 (GRCm39) |
W323* |
probably null |
Het |
Mrpl24 |
A |
G |
3: 87,829,705 (GRCm39) |
Y97C |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,965,749 (GRCm39) |
S541N |
probably benign |
Het |
Npepl1 |
T |
C |
2: 173,962,850 (GRCm39) |
V412A |
probably benign |
Het |
Nrg3 |
T |
A |
14: 39,194,409 (GRCm39) |
K117* |
probably null |
Het |
Or11j4 |
G |
T |
14: 50,630,948 (GRCm39) |
C245F |
probably damaging |
Het |
Or4f52 |
T |
C |
2: 111,061,275 (GRCm39) |
T288A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,506,851 (GRCm39) |
M447K |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,629,152 (GRCm39) |
I1541V |
possibly damaging |
Het |
Rapgef4 |
T |
C |
2: 72,010,293 (GRCm39) |
Y284H |
possibly damaging |
Het |
Rnf180 |
C |
A |
13: 105,317,957 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,099,216 (GRCm39) |
M625V |
probably benign |
Het |
Synpo |
T |
A |
18: 60,736,687 (GRCm39) |
M420L |
probably benign |
Het |
Tmem116 |
A |
C |
5: 121,655,955 (GRCm39) |
*147C |
probably null |
Het |
Top2b |
G |
A |
14: 16,423,779 (GRCm38) |
|
probably null |
Het |
Trp53bp2 |
T |
A |
1: 182,283,305 (GRCm39) |
C1014S |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,601,139 (GRCm39) |
F896L |
probably damaging |
Het |
Vil1 |
T |
C |
1: 74,459,026 (GRCm39) |
W177R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,316 (GRCm39) |
Y623F |
probably benign |
Het |
Vmn2r86 |
T |
C |
10: 130,289,535 (GRCm39) |
Y120C |
probably damaging |
Het |
Wdr18 |
A |
G |
10: 79,801,177 (GRCm39) |
T197A |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,076,064 (GRCm39) |
M472V |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp677 |
A |
G |
17: 21,617,918 (GRCm39) |
Y325C |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,605,478 (GRCm39) |
F407S |
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 |
|
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 |
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'- CAGCGCAGTTTGATGCAAAG -3'
(R):5'- TTTTCCACAGCAAAGTGAAAGTCC -3'
Sequencing Primer
(F):5'- TTTGATGCAAAGGGACCACTGTC -3'
(R):5'- GTCCTGTTTAAATTCACCAAGGTAG -3'
|
Posted On |
2017-06-26 |