Incidental Mutation 'IGL01065:Fbxl5'
ID |
51023 |
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 # |
IGL01065
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43902676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 679
(C679R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000048150]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000196483]
|
AlphaFold |
Q8C2S5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047857
AA Change: C680R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045792 Gene: ENSMUSG00000039753 AA Change: C680R
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 benign
Transcript: ENSMUST00000048150
|
SMART Domains |
Protein: ENSMUSP00000048320 Gene: ENSMUSG00000039765
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
coiled coil region
|
472 |
501 |
N/A |
INTRINSIC |
coiled coil region
|
553 |
582 |
N/A |
INTRINSIC |
Pfam:CC2D2AN-C2
|
645 |
817 |
2e-36 |
PFAM |
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
C2
|
1048 |
1208 |
3.43e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114047
AA Change: C674R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109681 Gene: ENSMUSG00000039753 AA Change: C674R
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: C663R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113557 Gene: ENSMUSG00000039753 AA Change: C663R
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 |
unknown
Transcript: ENSMUST00000141902
AA Change: C600R
|
SMART Domains |
Protein: ENSMUSP00000120338 Gene: ENSMUSG00000039753 AA Change: C600R
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 |
probably damaging
Transcript: ENSMUST00000196483
AA Change: C679R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143703 Gene: ENSMUSG00000039753 AA Change: C679R
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Apob |
A |
G |
12: 8,053,299 (GRCm39) |
Y1247C |
probably damaging |
Het |
Atg16l1 |
A |
T |
1: 87,713,653 (GRCm39) |
N401I |
probably damaging |
Het |
Bcam |
T |
C |
7: 19,490,724 (GRCm39) |
H591R |
probably benign |
Het |
Bcat1 |
T |
C |
6: 144,946,015 (GRCm39) |
S446G |
possibly damaging |
Het |
C2cd5 |
A |
G |
6: 143,024,005 (GRCm39) |
S262P |
probably damaging |
Het |
Clrn1 |
T |
C |
3: 58,792,446 (GRCm39) |
K6E |
probably damaging |
Het |
D17H6S53E |
A |
T |
17: 35,346,259 (GRCm39) |
K57* |
probably null |
Het |
Dennd1a |
T |
A |
2: 37,734,917 (GRCm39) |
I17F |
probably benign |
Het |
Depdc7 |
A |
C |
2: 104,552,426 (GRCm39) |
Y460* |
probably null |
Het |
Disp3 |
T |
C |
4: 148,345,640 (GRCm39) |
Y400C |
probably damaging |
Het |
Edem3 |
T |
C |
1: 151,653,302 (GRCm39) |
Y203H |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,632,923 (GRCm39) |
T1194A |
probably benign |
Het |
Garin4 |
T |
C |
1: 190,895,224 (GRCm39) |
D473G |
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,808,294 (GRCm39) |
L253P |
possibly damaging |
Het |
Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
Hoxb6 |
A |
G |
11: 96,191,635 (GRCm39) |
T186A |
probably damaging |
Het |
Kif24 |
A |
G |
4: 41,423,639 (GRCm39) |
|
probably benign |
Het |
Lonp1 |
T |
C |
17: 56,922,500 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,410,907 (GRCm39) |
I1427T |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,299,780 (GRCm39) |
E3091K |
possibly damaging |
Het |
Lzts1 |
T |
C |
8: 69,588,744 (GRCm39) |
N404S |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,451,877 (GRCm39) |
D1470E |
probably damaging |
Het |
Med30 |
A |
T |
15: 52,584,456 (GRCm39) |
N125Y |
probably benign |
Het |
Mgam |
G |
A |
6: 40,639,644 (GRCm39) |
|
probably null |
Het |
Mrps33 |
G |
A |
6: 39,779,447 (GRCm39) |
R83* |
probably null |
Het |
Notch3 |
A |
T |
17: 32,365,390 (GRCm39) |
Y1107* |
probably null |
Het |
Rc3h2 |
T |
A |
2: 37,267,856 (GRCm39) |
|
probably benign |
Het |
Rev1 |
T |
C |
1: 38,138,090 (GRCm39) |
E65G |
possibly damaging |
Het |
Rgl1 |
T |
C |
1: 152,394,893 (GRCm39) |
N760S |
probably damaging |
Het |
Slc16a4 |
T |
C |
3: 107,210,416 (GRCm39) |
I362T |
possibly damaging |
Het |
Slc25a24 |
G |
A |
3: 109,065,967 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
G |
T |
11: 69,836,782 (GRCm39) |
|
probably benign |
Het |
Slc39a13 |
T |
A |
2: 90,894,051 (GRCm39) |
I256F |
probably damaging |
Het |
Spdya |
A |
T |
17: 71,863,320 (GRCm39) |
N23I |
possibly damaging |
Het |
Srpra |
T |
A |
9: 35,124,734 (GRCm39) |
W112R |
probably damaging |
Het |
Tbc1d4 |
A |
C |
14: 101,686,629 (GRCm39) |
|
probably benign |
Het |
Ttc39d |
G |
A |
17: 80,523,703 (GRCm39) |
G121R |
probably damaging |
Het |
Tuba3a |
C |
T |
6: 125,259,920 (GRCm39) |
V9M |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,966,111 (GRCm39) |
K244E |
unknown |
Het |
Usp39 |
T |
C |
6: 72,316,958 (GRCm39) |
Y141C |
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 |
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 |
2013-06-21 |