Incidental Mutation 'IGL02285:Fbxl5'
ID |
289957 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxl5
|
Ensembl Gene |
ENSMUSG00000039753 |
Gene Name |
F-box and leucine-rich repeat protein 5 |
Synonyms |
Fbl4, Fir4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02285
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43922690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 243
(S243P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000087465]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000121736]
[ENSMUST00000124610]
[ENSMUST00000196483]
[ENSMUST00000199055]
|
AlphaFold |
Q8C2S5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047857
AA Change: S243P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045792 Gene: ENSMUSG00000039753 AA Change: S243P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
138 |
1.3e-10 |
PFAM |
FBOX
|
208 |
248 |
2.31e-9 |
SMART |
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
LRR
|
355 |
379 |
2.43e2 |
SMART |
LRR
|
382 |
407 |
4.87e-4 |
SMART |
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
LRR
|
596 |
621 |
2.45e0 |
SMART |
LRR
|
624 |
649 |
4.65e-1 |
SMART |
Blast:LRR
|
650 |
681 |
2e-13 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087465
AA Change: S243P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000084733 Gene: ENSMUSG00000039753 AA Change: S243P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
138 |
4.3e-15 |
PFAM |
FBOX
|
208 |
248 |
2.31e-9 |
SMART |
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
LRR
|
355 |
379 |
2.43e2 |
SMART |
LRR
|
382 |
407 |
4.87e-4 |
SMART |
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
LRR
|
596 |
621 |
1.23e2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114047
AA Change: S237P
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109681 Gene: ENSMUSG00000039753 AA Change: S237P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
19 |
132 |
4.4e-11 |
PFAM |
FBOX
|
202 |
242 |
2.31e-9 |
SMART |
low complexity region
|
283 |
304 |
N/A |
INTRINSIC |
LRR
|
349 |
373 |
2.43e2 |
SMART |
LRR
|
376 |
401 |
4.87e-4 |
SMART |
low complexity region
|
475 |
486 |
N/A |
INTRINSIC |
LRR
|
590 |
615 |
2.45e0 |
SMART |
LRR
|
618 |
643 |
4.65e-1 |
SMART |
Blast:LRR
|
644 |
675 |
2e-13 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119523
AA Change: S226P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113557 Gene: ENSMUSG00000039753 AA Change: S226P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
121 |
2.2e-9 |
PFAM |
FBOX
|
191 |
231 |
2.31e-9 |
SMART |
low complexity region
|
272 |
293 |
N/A |
INTRINSIC |
LRR
|
338 |
362 |
2.43e2 |
SMART |
LRR
|
365 |
390 |
4.87e-4 |
SMART |
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
LRR
|
579 |
604 |
2.45e0 |
SMART |
LRR
|
607 |
632 |
4.65e-1 |
SMART |
Blast:LRR
|
633 |
664 |
2e-13 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121736
AA Change: S200P
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112444 Gene: ENSMUSG00000039753 AA Change: S200P
Domain | Start | End | E-Value | Type |
PDB:3V5Z|B
|
1 |
118 |
2e-71 |
PDB |
FBOX
|
165 |
205 |
2.31e-9 |
SMART |
low complexity region
|
246 |
267 |
N/A |
INTRINSIC |
LRR
|
312 |
336 |
2.43e2 |
SMART |
LRR
|
339 |
364 |
4.87e-4 |
SMART |
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
LRR
|
553 |
578 |
1.23e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124421
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124610
AA Change: S243P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116720 Gene: ENSMUSG00000039753 AA Change: S243P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
138 |
5.7e-12 |
PFAM |
FBOX
|
208 |
248 |
1.5e-11 |
SMART |
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
LRR
|
355 |
379 |
1e0 |
SMART |
LRR
|
382 |
407 |
2e-6 |
SMART |
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
LRR
|
596 |
621 |
1e-2 |
SMART |
LRR
|
624 |
649 |
1.9e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196483
AA Change: S243P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143703 Gene: ENSMUSG00000039753 AA Change: S243P
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
138 |
1.3e-10 |
PFAM |
FBOX
|
208 |
248 |
2.31e-9 |
SMART |
low complexity region
|
289 |
309 |
N/A |
INTRINSIC |
LRR
|
354 |
378 |
2.43e2 |
SMART |
LRR
|
381 |
406 |
4.87e-4 |
SMART |
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
LRR
|
595 |
620 |
2.45e0 |
SMART |
LRR
|
623 |
648 |
4.65e-1 |
SMART |
Blast:LRR
|
649 |
680 |
2e-13 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141902
AA Change: S163P
|
SMART Domains |
Protein: ENSMUSP00000120338 Gene: ENSMUSG00000039753 AA Change: S163P
Domain | Start | End | E-Value | Type |
PDB:3V5Z|B
|
2 |
82 |
3e-43 |
PDB |
FBOX
|
129 |
169 |
2.31e-9 |
SMART |
low complexity region
|
210 |
231 |
N/A |
INTRINSIC |
LRR
|
276 |
300 |
2.43e2 |
SMART |
LRR
|
303 |
328 |
4.87e-4 |
SMART |
low complexity region
|
402 |
413 |
N/A |
INTRINSIC |
LRR
|
517 |
542 |
2.45e0 |
SMART |
LRR
|
545 |
570 |
4.65e-1 |
SMART |
Blast:LRR
|
571 |
602 |
3e-13 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199055
|
SMART Domains |
Protein: ENSMUSP00000142582 Gene: ENSMUSG00000039753
Domain | Start | End | E-Value | Type |
Pfam:Hemerythrin
|
6 |
105 |
6.1e-7 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before turning of the embryo with iron overload, growth retardation, and hemorrhage. Mice heterozygous for a knock-out allele exhibit abnormal iron homeostasis when fed a low iron diet. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
A |
G |
4: 126,244,670 (GRCm39) |
V672A |
possibly damaging |
Het |
Arhgef28 |
A |
T |
13: 98,187,536 (GRCm39) |
V253D |
possibly damaging |
Het |
Atg3 |
G |
A |
16: 44,998,680 (GRCm39) |
|
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,819,814 (GRCm39) |
D1557G |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 110,065,921 (GRCm39) |
T732A |
probably damaging |
Het |
Cert1 |
A |
G |
13: 96,752,990 (GRCm39) |
H348R |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,908,229 (GRCm39) |
I207F |
probably benign |
Het |
Dock1 |
T |
G |
7: 134,683,649 (GRCm39) |
|
probably null |
Het |
Drc7 |
A |
T |
8: 95,797,861 (GRCm39) |
|
probably benign |
Het |
Drosha |
C |
A |
15: 12,833,950 (GRCm39) |
P18H |
unknown |
Het |
Filip1 |
A |
G |
9: 79,727,408 (GRCm39) |
C404R |
probably damaging |
Het |
Gm5745 |
G |
A |
9: 73,082,780 (GRCm39) |
|
noncoding transcript |
Het |
Gm7808 |
T |
G |
9: 19,839,347 (GRCm39) |
|
probably benign |
Het |
Gpi-ps |
C |
T |
8: 5,690,373 (GRCm39) |
|
noncoding transcript |
Het |
Hcn3 |
T |
C |
3: 89,060,119 (GRCm39) |
D175G |
probably damaging |
Het |
Igkv1-117 |
A |
T |
6: 68,098,519 (GRCm39) |
M23L |
probably benign |
Het |
Kif26a |
A |
G |
12: 112,123,941 (GRCm39) |
D182G |
probably damaging |
Het |
Lmbr1 |
A |
G |
5: 29,459,233 (GRCm39) |
|
probably benign |
Het |
Lypd4 |
T |
A |
7: 24,564,865 (GRCm39) |
Q91L |
probably damaging |
Het |
Ncoa5 |
C |
T |
2: 164,844,760 (GRCm39) |
A37T |
probably damaging |
Het |
Or52ad1 |
G |
A |
7: 102,995,245 (GRCm39) |
R297* |
probably null |
Het |
Or56b1 |
A |
G |
7: 104,284,932 (GRCm39) |
E17G |
probably benign |
Het |
Or7g17 |
T |
A |
9: 18,768,286 (GRCm39) |
C122S |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,178,148 (GRCm39) |
K8E |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,634,387 (GRCm39) |
|
probably benign |
Het |
Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
Rpgrip1l |
A |
G |
8: 91,959,535 (GRCm39) |
F1122L |
possibly damaging |
Het |
Rps15 |
G |
T |
10: 80,129,596 (GRCm39) |
M43I |
probably benign |
Het |
Rrp15 |
T |
C |
1: 186,453,592 (GRCm39) |
|
probably benign |
Het |
Sash1 |
A |
T |
10: 8,616,098 (GRCm39) |
M588K |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,943,714 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,042,643 (GRCm39) |
V587A |
possibly damaging |
Het |
Sugct |
T |
C |
13: 17,847,181 (GRCm39) |
D34G |
possibly damaging |
Het |
Tdpoz2 |
T |
A |
3: 93,559,598 (GRCm39) |
I125F |
probably damaging |
Het |
Trim52 |
T |
A |
14: 106,344,702 (GRCm39) |
L120Q |
probably damaging |
Het |
Vmn1r85 |
T |
C |
7: 12,818,711 (GRCm39) |
I144M |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,595,823 (GRCm39) |
F792S |
probably damaging |
Het |
Vsnl1 |
A |
G |
12: 11,436,878 (GRCm39) |
F34L |
probably damaging |
Het |
|
Other mutations in Fbxl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Fbxl5
|
APN |
5 |
43,922,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00797:Fbxl5
|
APN |
5 |
43,915,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00811:Fbxl5
|
APN |
5 |
43,915,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01065:Fbxl5
|
APN |
5 |
43,902,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01626:Fbxl5
|
APN |
5 |
43,916,047 (GRCm39) |
missense |
probably benign |
0.00 |
D3080:Fbxl5
|
UTSW |
5 |
43,915,708 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4498001:Fbxl5
|
UTSW |
5 |
43,908,323 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0195:Fbxl5
|
UTSW |
5 |
43,928,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R0647:Fbxl5
|
UTSW |
5 |
43,925,411 (GRCm39) |
missense |
probably damaging |
0.98 |
R1540:Fbxl5
|
UTSW |
5 |
43,915,978 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1545:Fbxl5
|
UTSW |
5 |
43,928,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Fbxl5
|
UTSW |
5 |
43,922,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R1921:Fbxl5
|
UTSW |
5 |
43,922,832 (GRCm39) |
missense |
probably benign |
0.16 |
R3081:Fbxl5
|
UTSW |
5 |
43,908,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R3776:Fbxl5
|
UTSW |
5 |
43,915,618 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4096:Fbxl5
|
UTSW |
5 |
43,915,583 (GRCm39) |
missense |
probably benign |
0.19 |
R4275:Fbxl5
|
UTSW |
5 |
43,920,114 (GRCm39) |
intron |
probably benign |
|
R4383:Fbxl5
|
UTSW |
5 |
43,920,305 (GRCm39) |
intron |
probably benign |
|
R4469:Fbxl5
|
UTSW |
5 |
43,925,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Fbxl5
|
UTSW |
5 |
43,922,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R5067:Fbxl5
|
UTSW |
5 |
43,916,114 (GRCm39) |
missense |
probably benign |
0.00 |
R5093:Fbxl5
|
UTSW |
5 |
43,930,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5696:Fbxl5
|
UTSW |
5 |
43,916,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5738:Fbxl5
|
UTSW |
5 |
43,920,170 (GRCm39) |
missense |
probably benign |
0.30 |
R6029:Fbxl5
|
UTSW |
5 |
43,922,746 (GRCm39) |
missense |
probably damaging |
0.96 |
R6185:Fbxl5
|
UTSW |
5 |
43,978,894 (GRCm39) |
missense |
probably benign |
0.02 |
R6842:Fbxl5
|
UTSW |
5 |
43,930,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7234:Fbxl5
|
UTSW |
5 |
43,915,562 (GRCm39) |
missense |
probably benign |
0.08 |
R7563:Fbxl5
|
UTSW |
5 |
43,978,891 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Fbxl5
|
UTSW |
5 |
43,916,116 (GRCm39) |
missense |
probably benign |
|
R7842:Fbxl5
|
UTSW |
5 |
43,915,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Fbxl5
|
UTSW |
5 |
43,916,018 (GRCm39) |
missense |
probably benign |
0.00 |
R8139:Fbxl5
|
UTSW |
5 |
43,916,087 (GRCm39) |
nonsense |
probably null |
|
R8393:Fbxl5
|
UTSW |
5 |
43,925,433 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8727:Fbxl5
|
UTSW |
5 |
43,908,362 (GRCm39) |
splice site |
probably benign |
|
R9616:Fbxl5
|
UTSW |
5 |
43,916,159 (GRCm39) |
missense |
probably benign |
|
RF012:Fbxl5
|
UTSW |
5 |
43,930,847 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Fbxl5
|
UTSW |
5 |
43,918,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |