Incidental Mutation 'R5885:Fbxl3'
ID |
456057 |
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 |
043237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.240)
|
Stock # |
R5885 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
103317675-103337002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103320667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 260
(I260K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022720]
[ENSMUST00000132004]
[ENSMUST00000145693]
|
AlphaFold |
Q8C4V4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022720
AA Change: I308K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000022720 Gene: ENSMUSG00000022124 AA Change: I308K
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: ENSMUST00000127113
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132004
AA Change: I260K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115843 Gene: ENSMUSG00000022124 AA Change: I260K
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: ENSMUST00000145693
AA Change: I308K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000116044 Gene: ENSMUSG00000022124 AA Change: I308K
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: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
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 |
R5349:Fbxl3
|
UTSW |
14 |
103,333,012 (GRCm39) |
intron |
probably benign |
|
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 |
PCR Primer
(F):5'- AGGCACTACATGAGACTTCAC -3'
(R):5'- GCTCGCACTGTCTTCTGAAAAG -3'
Sequencing Primer
(F):5'- GGCACTACATGAGACTTCACATTCC -3'
(R):5'- GTCTTCTGAAAAGCATGTTCGC -3'
|
Posted On |
2017-02-15 |