Incidental Mutation 'R1540:Fbxl5'
ID |
171650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl5
|
Ensembl Gene |
ENSMUSG00000039753 |
Gene Name |
F-box and leucine-rich repeat protein 5 |
Synonyms |
Fbl4, Fir4 |
MMRRC Submission |
039579-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1540 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43915978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 435
(V435E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000087465]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000121736]
[ENSMUST00000124610]
[ENSMUST00000196483]
|
AlphaFold |
Q8C2S5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047857
AA Change: V478E
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045792 Gene: ENSMUSG00000039753 AA Change: V478E
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: V478E
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000084733 Gene: ENSMUSG00000039753 AA Change: V478E
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: V472E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109681 Gene: ENSMUSG00000039753 AA Change: V472E
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: V461E
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113557 Gene: ENSMUSG00000039753 AA Change: V461E
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: V435E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112444 Gene: ENSMUSG00000039753 AA Change: V435E
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: V478E
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116720 Gene: ENSMUSG00000039753 AA Change: V478E
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: V477E
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143703 Gene: ENSMUSG00000039753 AA Change: V477E
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: V398E
|
SMART Domains |
Protein: ENSMUSP00000120338 Gene: ENSMUSG00000039753 AA Change: V398E
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 |
noncoding transcript
Transcript: ENSMUST00000196543
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140469
|
Meta Mutation Damage Score |
0.5814 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
96% (72/75) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,574,384 (GRCm39) |
C767R |
probably benign |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,551,775 (GRCm39) |
I644N |
probably benign |
Het |
Asb16 |
A |
G |
11: 102,163,402 (GRCm39) |
I131V |
probably benign |
Het |
Atp6v0a2 |
C |
A |
5: 124,784,638 (GRCm39) |
A307D |
probably damaging |
Het |
C1qtnf1 |
C |
T |
11: 118,338,749 (GRCm39) |
H140Y |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,347,865 (GRCm39) |
D741V |
probably damaging |
Het |
Caprin2 |
T |
A |
6: 148,777,969 (GRCm39) |
T211S |
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,283,037 (GRCm39) |
E89G |
possibly damaging |
Het |
Casz1 |
T |
A |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
Catsperb |
G |
A |
12: 101,378,589 (GRCm39) |
R30Q |
probably benign |
Het |
Ccdc102a |
A |
T |
8: 95,634,341 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
G |
T |
8: 46,395,362 (GRCm39) |
E418* |
probably null |
Het |
Ccdc90b |
C |
T |
7: 92,231,024 (GRCm39) |
A210V |
probably benign |
Het |
Cdadc1 |
G |
T |
14: 59,823,532 (GRCm39) |
A320E |
probably damaging |
Het |
Cdadc1 |
T |
A |
14: 59,823,541 (GRCm39) |
Q317L |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,567,498 (GRCm39) |
W1396L |
probably damaging |
Het |
Col4a6 |
T |
C |
X: 140,010,854 (GRCm39) |
T129A |
probably damaging |
Het |
Ctcfl |
C |
T |
2: 172,954,141 (GRCm39) |
D319N |
probably benign |
Het |
Dclk1 |
T |
C |
3: 55,385,244 (GRCm39) |
S45P |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,999,726 (GRCm39) |
I5581T |
probably benign |
Het |
Evi2 |
T |
C |
11: 79,406,412 (GRCm39) |
I388V |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,064,582 (GRCm39) |
M887K |
possibly damaging |
Het |
Glt8d1 |
G |
A |
14: 30,733,549 (GRCm39) |
V345I |
probably benign |
Het |
Gm5709 |
T |
C |
3: 59,526,073 (GRCm39) |
|
noncoding transcript |
Het |
Hsp90b1 |
A |
G |
10: 86,529,906 (GRCm39) |
F264L |
probably damaging |
Het |
Id3 |
A |
G |
4: 135,871,250 (GRCm39) |
S21G |
possibly damaging |
Het |
Ighe |
T |
A |
12: 113,235,066 (GRCm39) |
N365Y |
unknown |
Het |
Il17rd |
T |
G |
14: 26,821,915 (GRCm39) |
M403R |
probably damaging |
Het |
Ints10 |
A |
G |
8: 69,249,365 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
T |
A |
3: 107,352,743 (GRCm39) |
|
probably null |
Het |
Kctd19 |
A |
G |
8: 106,114,511 (GRCm39) |
S517P |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,821,944 (GRCm39) |
F2964L |
probably benign |
Het |
Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,990 (GRCm39) |
K405R |
probably benign |
Het |
Lyst |
T |
A |
13: 13,809,686 (GRCm39) |
M452K |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,273 (GRCm39) |
L677P |
probably benign |
Het |
Mrps27 |
T |
A |
13: 99,541,558 (GRCm39) |
F221I |
probably benign |
Het |
Nhlrc1 |
C |
T |
13: 47,167,820 (GRCm39) |
V146M |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,772 (GRCm39) |
C895* |
probably null |
Het |
Nod1 |
T |
C |
6: 54,920,960 (GRCm39) |
T453A |
probably benign |
Het |
Nodal |
T |
C |
10: 61,258,764 (GRCm39) |
V67A |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,184,440 (GRCm39) |
L381P |
probably damaging |
Het |
Or13c25 |
T |
C |
4: 52,910,996 (GRCm39) |
D266G |
probably benign |
Het |
Or2b2b |
T |
A |
13: 21,858,700 (GRCm39) |
Q138L |
probably benign |
Het |
Or9e1 |
T |
A |
11: 58,732,477 (GRCm39) |
M179K |
probably benign |
Het |
P2ry14 |
T |
A |
3: 59,022,686 (GRCm39) |
K267M |
probably benign |
Het |
Pcdh1 |
T |
C |
18: 38,322,779 (GRCm39) |
N1018S |
probably benign |
Het |
Pkn3 |
G |
A |
2: 29,974,703 (GRCm39) |
V406I |
probably damaging |
Het |
Prkcb |
C |
T |
7: 122,226,916 (GRCm39) |
T634I |
probably damaging |
Het |
Psme2b |
T |
A |
11: 48,836,209 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
A |
G |
3: 100,967,970 (GRCm39) |
I541T |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,307,746 (GRCm39) |
V684A |
probably benign |
Het |
Rbbp5 |
C |
T |
1: 132,422,020 (GRCm39) |
R307* |
probably null |
Het |
Rcor1 |
T |
A |
12: 111,070,037 (GRCm39) |
|
probably benign |
Het |
Rlbp1 |
C |
T |
7: 79,029,808 (GRCm39) |
A142T |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,560,305 (GRCm39) |
E581G |
probably null |
Het |
Sars1 |
A |
T |
3: 108,340,461 (GRCm39) |
V155E |
probably benign |
Het |
Sec31a |
G |
C |
5: 100,523,178 (GRCm39) |
P569A |
probably damaging |
Het |
Selenof |
A |
T |
3: 144,300,685 (GRCm39) |
K111* |
probably null |
Het |
Serpinb7 |
C |
T |
1: 107,355,998 (GRCm39) |
A7V |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,720,409 (GRCm39) |
I204N |
probably damaging |
Het |
Spry4 |
T |
G |
18: 38,734,740 (GRCm39) |
|
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,328,751 (GRCm39) |
N261S |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,937,804 (GRCm39) |
F192S |
probably benign |
Het |
Tnr |
T |
A |
1: 159,677,675 (GRCm39) |
I20N |
probably damaging |
Het |
Ttll5 |
C |
T |
12: 85,938,982 (GRCm39) |
Q427* |
probably null |
Het |
Vps45 |
C |
T |
3: 95,955,658 (GRCm39) |
A111T |
probably damaging |
Het |
Zfp395 |
T |
C |
14: 65,630,523 (GRCm39) |
S358P |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,210,740 (GRCm39) |
V766A |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACATTGCAGAAGTCGCTGGG -3'
(R):5'- CTTTCTGAAAAGTGCAGGCAAGGC -3'
Sequencing Primer
(F):5'- GCTGTCCCTGTACAACAGAATG -3'
(R):5'- AGGCAAGGCTGCTTCAAC -3'
|
Posted On |
2014-04-13 |