Incidental Mutation 'R4239:Fbxl3'
| ID |
321284 |
| 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 |
041056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R4239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
103317675-103337002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103326854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 176
(S176L)
|
| 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: S176L
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: S176L
| 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 |
noncoding transcript
Transcript: ENSMUST00000127113
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132004
AA Change: S128L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: S128L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
2.46e-4 |
SMART |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144141
AA Change: S176L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120691
Gene: ENSMUSG00000022124
AA Change: S176L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
39 |
79 |
5.92e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145693
AA Change: S176L
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: S176L
| 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
|
| Meta Mutation Damage Score |
0.1582 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (55/58) |
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,433,212 (GRCm39) |
I1765F |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,237,414 (GRCm39) |
I696N |
probably damaging |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,035,710 (GRCm39) |
N759D |
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,641,239 (GRCm39) |
L18P |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,312,247 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
T |
C |
8: 111,585,244 (GRCm39) |
I303T |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,932,001 (GRCm39) |
V363I |
unknown |
Het |
| Crip3 |
A |
T |
17: 46,742,156 (GRCm39) |
K184* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,628,248 (GRCm39) |
Q1459* |
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Ehhadh |
T |
G |
16: 21,581,438 (GRCm39) |
D518A |
probably damaging |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,352,509 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,196,950 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,191,224 (GRCm39) |
I1086T |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
| Or51f1d |
T |
C |
7: 102,701,003 (GRCm39) |
V166A |
probably benign |
Het |
| Or5g25 |
T |
A |
2: 85,478,647 (GRCm39) |
Q6L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,186,078 (GRCm39) |
I682F |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,986,344 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
T |
A |
13: 27,821,549 (GRCm39) |
Q129L |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,163 (GRCm39) |
Y763C |
probably damaging |
Het |
| Psma7 |
T |
C |
2: 179,681,304 (GRCm39) |
|
probably benign |
Het |
| Serpinb6b |
G |
C |
13: 33,156,246 (GRCm39) |
C112S |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Slc35f5 |
G |
A |
1: 125,500,211 (GRCm39) |
A242T |
possibly damaging |
Het |
| Speer4b |
T |
C |
5: 27,706,311 (GRCm39) |
R19G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trbv12-2 |
A |
G |
6: 41,095,831 (GRCm39) |
N12D |
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,001 (GRCm39) |
|
probably null |
Het |
| Upf3a |
A |
G |
8: 13,846,591 (GRCm39) |
R324G |
probably benign |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Wbp2 |
G |
A |
11: 115,971,373 (GRCm39) |
|
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,645,269 (GRCm39) |
N232K |
probably damaging |
Het |
| Wdpcp |
T |
A |
11: 21,645,271 (GRCm39) |
M233K |
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
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 |
|
|
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'- AAGTCTAAGCTCTAGAATACTGCAG -3'
(R):5'- CAGGGTGCTGCCTTTTAACAG -3'
Sequencing Primer
(F):5'- GGACACTGAAGTTTACTTTGAAGAAG -3'
(R):5'- GCTGCCTTTTAACAGTTTTGCG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation