Incidental Mutation 'IGL00236:Fbxl5'
ID |
2413 |
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 # |
IGL00236
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43922678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 247
(H247N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000087465]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000121736]
[ENSMUST00000124610]
[ENSMUST00000196483]
[ENSMUST00000199055]
|
AlphaFold |
Q8C2S5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047857
AA Change: H247N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045792 Gene: ENSMUSG00000039753 AA Change: H247N
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: H247N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000084733 Gene: ENSMUSG00000039753 AA Change: H247N
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: H241N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109681 Gene: ENSMUSG00000039753 AA Change: H241N
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: H230N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113557 Gene: ENSMUSG00000039753 AA Change: H230N
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: H204N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112444 Gene: ENSMUSG00000039753 AA Change: H204N
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: H247N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116720 Gene: ENSMUSG00000039753 AA Change: H247N
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: H247N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143703 Gene: ENSMUSG00000039753 AA Change: H247N
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: H167N
|
SMART Domains |
Protein: ENSMUSP00000120338 Gene: ENSMUSG00000039753 AA Change: H167N
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh1 |
A |
G |
12: 87,490,467 (GRCm39) |
V43A |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,381,787 (GRCm39) |
S2460T |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,870,201 (GRCm39) |
L176P |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,744,569 (GRCm39) |
I952T |
probably damaging |
Het |
Cdkl4 |
A |
T |
17: 80,832,705 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,227,767 (GRCm39) |
L156P |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,905,880 (GRCm39) |
L90S |
probably benign |
Het |
Efhb |
T |
C |
17: 53,769,481 (GRCm39) |
D276G |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,525,619 (GRCm39) |
D1481G |
unknown |
Het |
Fam83b |
T |
C |
9: 76,398,260 (GRCm39) |
I948V |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,692,032 (GRCm39) |
I37T |
probably benign |
Het |
Hfe |
C |
T |
13: 23,889,835 (GRCm39) |
|
probably benign |
Het |
Ighv1-36 |
A |
T |
12: 114,843,770 (GRCm39) |
L29Q |
possibly damaging |
Het |
Inpp5e |
G |
T |
2: 26,298,533 (GRCm39) |
Q23K |
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,808,983 (GRCm39) |
S619P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
Or51s1 |
T |
C |
7: 102,558,479 (GRCm39) |
H189R |
probably damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,903 (GRCm39) |
I143F |
probably benign |
Het |
Pard6a |
T |
C |
8: 106,429,446 (GRCm39) |
S135P |
probably damaging |
Het |
Prss43 |
G |
T |
9: 110,658,538 (GRCm39) |
Q279H |
probably benign |
Het |
Ptcd2 |
T |
C |
13: 99,466,573 (GRCm39) |
N207D |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,070,986 (GRCm39) |
I23V |
probably benign |
Het |
Scg5 |
A |
G |
2: 113,657,915 (GRCm39) |
|
probably benign |
Het |
Sh3bp5 |
T |
A |
14: 31,101,347 (GRCm39) |
K212* |
probably null |
Het |
Slc25a30 |
C |
T |
14: 76,004,365 (GRCm39) |
G244D |
possibly damaging |
Het |
Slc38a10 |
T |
C |
11: 119,997,428 (GRCm39) |
R689G |
probably damaging |
Het |
Spatc1 |
A |
G |
15: 76,168,994 (GRCm39) |
D321G |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,142,037 (GRCm39) |
Y628F |
probably damaging |
Het |
Wdr35 |
G |
A |
12: 9,069,900 (GRCm39) |
V813I |
probably benign |
Het |
|
Other mutations in Fbxl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-12-09 |