Incidental Mutation 'IGL02871:Fbxl4'
| ID |
362579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl4
|
| Ensembl Gene |
ENSMUSG00000040410 |
| Gene Name |
F-box and leucine-rich repeat protein 4 |
| Synonyms |
FBL5, FBL4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22386213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 273
(D273E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039234]
[ENSMUST00000184455]
[ENSMUST00000184582]
[ENSMUST00000185029]
|
| AlphaFold |
Q8BH70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039234
AA Change: D273E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: D273E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
|
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
|
LRR
|
400 |
425 |
1.95e-3 |
SMART |
|
LRR
|
450 |
475 |
1.01e-1 |
SMART |
|
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
|
LRR
|
504 |
524 |
1.16e2 |
SMART |
|
LRR
|
532 |
557 |
3.69e1 |
SMART |
|
LRR
|
558 |
583 |
8.71e0 |
SMART |
|
LRR
|
584 |
609 |
1.64e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184455
AA Change: D273E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184582
AA Change: D273E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: D273E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
|
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
|
LRR
|
400 |
425 |
1.95e-3 |
SMART |
|
LRR
|
450 |
475 |
1.01e-1 |
SMART |
|
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
|
LRR
|
504 |
524 |
1.16e2 |
SMART |
|
LRR
|
532 |
557 |
3.69e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185029
AA Change: D273E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: D273E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
|
Blast:LRR
|
344 |
372 |
1e-7 |
BLAST |
|
Blast:LRR
|
400 |
425 |
2e-9 |
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 are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly damaging |
Het |
|
| Other mutations in Fbxl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Fbxl4
|
APN |
4 |
22,427,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01973:Fbxl4
|
APN |
4 |
22,422,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02360:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Fbxl4
|
UTSW |
4 |
22,377,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Fbxl4
|
UTSW |
4 |
22,386,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1053:Fbxl4
|
UTSW |
4 |
22,427,166 (GRCm39) |
missense |
probably benign |
|
|
R1527:Fbxl4
|
UTSW |
4 |
22,386,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Fbxl4
|
UTSW |
4 |
22,385,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2148:Fbxl4
|
UTSW |
4 |
22,427,333 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2196:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
|
R2850:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
|
R4024:Fbxl4
|
UTSW |
4 |
22,377,074 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4425:Fbxl4
|
UTSW |
4 |
22,422,699 (GRCm39) |
splice site |
probably null |
|
|
R5227:Fbxl4
|
UTSW |
4 |
22,376,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Fbxl4
|
UTSW |
4 |
22,386,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Fbxl4
|
UTSW |
4 |
22,433,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Fbxl4
|
UTSW |
4 |
22,390,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Fbxl4
|
UTSW |
4 |
22,433,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6697:Fbxl4
|
UTSW |
4 |
22,376,599 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6977:Fbxl4
|
UTSW |
4 |
22,376,930 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7106:Fbxl4
|
UTSW |
4 |
22,427,140 (GRCm39) |
splice site |
probably null |
|
|
R7164:Fbxl4
|
UTSW |
4 |
22,386,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7264:Fbxl4
|
UTSW |
4 |
22,386,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7502:Fbxl4
|
UTSW |
4 |
22,376,655 (GRCm39) |
missense |
probably benign |
|
|
R7645:Fbxl4
|
UTSW |
4 |
22,377,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Fbxl4
|
UTSW |
4 |
22,376,869 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8152:Fbxl4
|
UTSW |
4 |
22,427,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8445:Fbxl4
|
UTSW |
4 |
22,385,983 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8693:Fbxl4
|
UTSW |
4 |
22,403,704 (GRCm39) |
missense |
probably benign |
|
|
R8856:Fbxl4
|
UTSW |
4 |
22,390,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Fbxl4
|
UTSW |
4 |
22,376,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Fbxl4
|
UTSW |
4 |
22,427,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation