Incidental Mutation 'R3081:Fbxl5'
| ID |
265416 |
| 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 |
040571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43901958-43939529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43908222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 660
(Y660H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000124610]
[ENSMUST00000196483]
|
| AlphaFold |
Q8C2S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047857
AA Change: Y660H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: Y660H
| 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: ENSMUST00000114047
AA Change: Y654H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: Y654H
| 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: Y643H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: Y643H
| 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: ENSMUST00000124610
AA Change: Y660H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: Y660H
| 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: ENSMUST00000141902
AA Change: Y580H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: Y580H
| 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: Y659H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: Y659H
| 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: ENSMUST00000196543
|
| Meta Mutation Damage Score |
0.8363 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
| Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
| Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,281 (GRCm39) |
R583H |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,989 (GRCm39) |
N1155K |
possibly damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
| Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
| Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
| Coro6 |
T |
C |
11: 77,359,738 (GRCm39) |
F336S |
probably damaging |
Het |
| Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
| Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
| Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
| Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,824,566 (GRCm39) |
F519S |
probably damaging |
Het |
| Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
| Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
| Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
| Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
| Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
| Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,717 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,804,928 (GRCm39) |
Q449L |
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 |
|
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 |
|
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'- CATCCTAGAATAATCTCCGTGTTTC -3'
(R):5'- GCCAAGGTTCCTGTTTCTTG -3'
Sequencing Primer
(F):5'- CATGCCTAAAAATCTGGTACAATGG -3'
(R):5'- CAAGGTTCCTGTTTCTTGACTGTCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation