Incidental Mutation 'R5349:Fbxl3'
| ID |
422780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl3
|
| Ensembl Gene |
ENSMUSG00000022124 |
| Gene Name |
F-box and leucine-rich repeat protein 3 |
| Synonyms |
Fbxl3a, Play68, Ovtm, Fbl3a |
| MMRRC Submission |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
103317675-103337002 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 103333012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022720]
[ENSMUST00000123043]
[ENSMUST00000132004]
[ENSMUST00000144141]
[ENSMUST00000145693]
|
| AlphaFold |
Q8C4V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022720
|
| SMART Domains |
Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
5.92e-7 |
SMART |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123043
|
| SMART Domains |
Protein: ENSMUSP00000117701
Gene: ENSMUSG00000022124
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
2.46e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132004
|
| SMART Domains |
Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
2.46e-4 |
SMART |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144141
|
| SMART Domains |
Protein: ENSMUSP00000120691
Gene: ENSMUSG00000022124
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
5.92e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145693
|
| SMART Domains |
Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
5.92e-7 |
SMART |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226952
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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 and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous mutant mice display a longer free running period than that of wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
| Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
probably damaging |
Het |
|
| Other mutations in Fbxl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Fbxl3
|
APN |
14 |
103,332,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Fbxl3
|
APN |
14 |
103,332,900 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03208:Fbxl3
|
APN |
14 |
103,320,376 (GRCm39) |
nonsense |
probably null |
|
|
delargo
|
UTSW |
14 |
103,326,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Fbxl3
|
UTSW |
14 |
103,332,900 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0282:Fbxl3
|
UTSW |
14 |
103,332,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Fbxl3
|
UTSW |
14 |
103,320,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Fbxl3
|
UTSW |
14 |
103,326,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Fbxl3
|
UTSW |
14 |
103,332,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Fbxl3
|
UTSW |
14 |
103,320,648 (GRCm39) |
nonsense |
probably null |
|
|
R4239:Fbxl3
|
UTSW |
14 |
103,326,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Fbxl3
|
UTSW |
14 |
103,329,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Fbxl3
|
UTSW |
14 |
103,320,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Fbxl3
|
UTSW |
14 |
103,320,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4586:Fbxl3
|
UTSW |
14 |
103,320,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5347:Fbxl3
|
UTSW |
14 |
103,320,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5885:Fbxl3
|
UTSW |
14 |
103,320,667 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6744:Fbxl3
|
UTSW |
14 |
103,320,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8314:Fbxl3
|
UTSW |
14 |
103,326,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9015:Fbxl3
|
UTSW |
14 |
103,329,790 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
|
| Posted On |
2016-08-04 |
Incidental Mutation