Incidental Mutation 'R1545:Fbxl5'
| ID |
172097 |
| 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 |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43928140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 40
(L40Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142582
(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: L112Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: L112Q
| 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: L112Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: L112Q
| 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: L106Q
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: L106Q
| 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: L95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: L95Q
| 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: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: L69Q
| 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: L112Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: L112Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000143316
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196483
AA Change: L112Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: L112Q
| 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 |
probably damaging
Transcript: ENSMUST00000199055
AA Change: L40Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142582
Gene: ENSMUSG00000039753
AA Change: L40Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hemerythrin
|
6 |
105 |
6.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141902
|
| SMART Domains |
Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
| 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 |
|
| Meta Mutation Damage Score |
0.5149 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
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 |
|
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 |
|
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'- ACTGGATTTCATTCCTGTGCCCAAG -3'
(R):5'- CCTGGCTCCAAGGACATCTTTATGC -3'
Sequencing Primer
(F):5'- TTCCTGTGCCCAAGAAGAAAC -3'
(R):5'- ACTTACATATAtttgaggcagaatcc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation