Incidental Mutation 'R5067:Fbxl5'
| ID |
388363 |
| 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 |
042657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43916114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 432
(K432E)
|
| 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 benign
Transcript: ENSMUST00000047857
AA Change: K433E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: K433E
| 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: ENSMUST00000087465
AA Change: K433E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: K433E
| 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 benign
Transcript: ENSMUST00000114047
AA Change: K427E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: K427E
| 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 benign
Transcript: ENSMUST00000119523
AA Change: K416E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: K416E
| 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 benign
Transcript: ENSMUST00000121736
AA Change: K390E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: K390E
| 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 benign
Transcript: ENSMUST00000124610
AA Change: K433E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: K433E
| 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 |
unknown
Transcript: ENSMUST00000141902
AA Change: K353E
|
| SMART Domains |
Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: K353E
| 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 benign
Transcript: ENSMUST00000196483
AA Change: K432E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: K432E
| 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 |
noncoding transcript
Transcript: ENSMUST00000143316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140469
|
| Meta Mutation Damage Score |
0.1098 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
| Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
| Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
| Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
| Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
| Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
| Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
| Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
| Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
| Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
| Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
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 |
|
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 |
|
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'- GCTGTTTCCATCACACAGAGAC -3'
(R):5'- CCCTCTTGTAGTTGGTCTTGGC -3'
Sequencing Primer
(F):5'- CACAGAGACTCTCAACATTTCTGTG -3'
(R):5'- CTCGGTTGCTGCCAGAGTC -3'
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| Posted On |
2016-06-06 |
Incidental Mutation