Incidental Mutation 'R1075:Fbxl3'
| ID |
85625 |
| 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 |
039161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R1075 (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 C
at 103332839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 46
(H46Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022720]
[ENSMUST00000123043]
[ENSMUST00000132004]
[ENSMUST00000144141]
[ENSMUST00000145693]
|
| AlphaFold |
Q8C4V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022720
AA Change: H46Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: H46Q
| 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
AA Change: H46Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117701
Gene: ENSMUSG00000022124
AA Change: H46Q
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
2.46e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132004
AA Change: H46Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: H46Q
| 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
AA Change: H46Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120691
Gene: ENSMUSG00000022124
AA Change: H46Q
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
5.92e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145693
AA Change: H46Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: H46Q
| 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: 97.2%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,391,567 (GRCm39) |
N627D |
possibly damaging |
Het |
| Asns |
G |
A |
6: 7,676,076 (GRCm39) |
R465* |
probably null |
Het |
| Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
| Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
| Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
| Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
| Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
| Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
| Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
| H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,523,612 (GRCm39) |
I318V |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
| Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
| Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
| Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,291,164 (GRCm39) |
Y589H |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
| Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,419,926 (GRCm39) |
H341L |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AGCTCAACTGGCTGTGACAGTAAC -3'
(R):5'- TCTCCACCGGCAGGTTTCATTG -3'
Sequencing Primer
(F):5'- GGGTTACCTTGAAGCTGACATAC -3'
(R):5'- GCGTATTTCTGTCCAAATCCAAAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation