Incidental Mutation 'IGL00811:Fbxl5'
| ID |
10722 |
| 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 # |
IGL00811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43915567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 614
(L614P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000087465]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000121736]
[ENSMUST00000124610]
[ENSMUST00000196483]
|
| AlphaFold |
Q8C2S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047857
AA Change: L615P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: L615P
| 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 |
probably damaging
Transcript: ENSMUST00000087465
AA Change: L615P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: L615P
| 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 |
probably damaging
Transcript: ENSMUST00000114047
AA Change: L609P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: L609P
| 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 |
probably damaging
Transcript: ENSMUST00000119523
AA Change: L598P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: L598P
| 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 |
probably damaging
Transcript: ENSMUST00000121736
AA Change: L572P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: L572P
| 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 |
probably damaging
Transcript: ENSMUST00000124610
AA Change: L615P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: L615P
| 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 |
probably damaging
Transcript: ENSMUST00000196483
AA Change: L614P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: L614P
| 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: L535P
|
| SMART Domains |
Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: L535P
| 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: ENSMUST00000140469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196543
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agps |
T |
C |
2: 75,756,316 (GRCm39) |
F649L |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,231 (GRCm39) |
D1752E |
possibly damaging |
Het |
| Det1 |
A |
G |
7: 78,489,807 (GRCm39) |
V406A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,672 (GRCm39) |
V955A |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,354 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,961,285 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,201 (GRCm39) |
V353D |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,724 (GRCm39) |
P140S |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,244 (GRCm39) |
F4L |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,579,531 (GRCm39) |
S588R |
possibly damaging |
Het |
| Nmrk1 |
T |
A |
19: 18,622,511 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
C |
T |
7: 45,732,732 (GRCm39) |
A1165V |
possibly damaging |
Het |
| Osmr |
G |
A |
15: 6,845,147 (GRCm39) |
T873I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,024 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,544 (GRCm39) |
M115K |
probably damaging |
Het |
| Rora |
C |
A |
9: 69,278,572 (GRCm39) |
T299K |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,500,389 (GRCm39) |
P386Q |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,213 (GRCm39) |
E306G |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,521,414 (GRCm39) |
A121S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,332,752 (GRCm39) |
A411V |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,306 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,855,463 (GRCm39) |
N2509K |
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 |
|
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 |
|
IGL02285:Fbxl5
|
APN |
5 |
43,922,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2012-12-06 |
Incidental Mutation