Incidental Mutation 'R2993:Fbxl2'
| ID |
257972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl2
|
| Ensembl Gene |
ENSMUSG00000032507 |
| Gene Name |
F-box and leucine-rich repeat protein 2 |
| Synonyms |
Fbl3, 2810423A21Rik |
| MMRRC Submission |
040528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2993 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
113787625-113855871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113818484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 159
(E159G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035090]
[ENSMUST00000117537]
[ENSMUST00000143180]
|
| AlphaFold |
Q8BH16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035090
AA Change: E159G
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
15 |
55 |
1.18e-6 |
SMART |
|
LRR
|
77 |
102 |
1.16e-1 |
SMART |
|
LRR
|
103 |
128 |
5.21e-4 |
SMART |
|
LRR
|
129 |
154 |
2.24e-3 |
SMART |
|
LRR_CC
|
155 |
180 |
5.46e-7 |
SMART |
|
LRR
|
181 |
206 |
7.05e-1 |
SMART |
|
LRR
|
207 |
232 |
4.87e-4 |
SMART |
|
LRR
|
233 |
258 |
1.5e-4 |
SMART |
|
LRR
|
259 |
284 |
8.81e-2 |
SMART |
|
LRR
|
285 |
310 |
2.05e-2 |
SMART |
|
LRR_CC
|
311 |
336 |
6.37e-8 |
SMART |
|
LRR
|
365 |
391 |
2.44e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117537
AA Change: E159G
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: E159G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
15 |
55 |
1.18e-6 |
SMART |
|
LRR
|
77 |
102 |
1.16e-1 |
SMART |
|
LRR
|
103 |
128 |
5.21e-4 |
SMART |
|
LRR
|
129 |
154 |
2.24e-3 |
SMART |
|
LRR_CC
|
155 |
180 |
5.46e-7 |
SMART |
|
LRR
|
181 |
206 |
7.05e-1 |
SMART |
|
LRR
|
207 |
232 |
4.87e-4 |
SMART |
|
LRR
|
233 |
258 |
1.5e-4 |
SMART |
|
LRR
|
259 |
284 |
8.81e-2 |
SMART |
|
LRR
|
285 |
310 |
2.05e-2 |
SMART |
|
LRR_CC
|
311 |
336 |
6.37e-8 |
SMART |
|
LRR
|
365 |
391 |
2.44e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143180
|
| Meta Mutation Damage Score |
0.1253 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| 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 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,372,184 (GRCm39) |
W67R |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
| Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
| Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,427,017 (GRCm39) |
V206I |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
| Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
| Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
| Klhdc4 |
G |
C |
8: 122,533,320 (GRCm39) |
S118* |
probably null |
Het |
| Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
| Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
| Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,715 (GRCm39) |
R85H |
probably damaging |
Het |
| Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
| Vmn2r55 |
C |
T |
7: 12,418,882 (GRCm39) |
A13T |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
probably damaging |
Het |
|
| Other mutations in Fbxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Fbxl2
|
APN |
9 |
113,813,047 (GRCm39) |
splice site |
probably benign |
|
|
IGL02165:Fbxl2
|
APN |
9 |
113,847,099 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02535:Fbxl2
|
APN |
9 |
113,808,575 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0145:Fbxl2
|
UTSW |
9 |
113,814,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Fbxl2
|
UTSW |
9 |
113,818,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Fbxl2
|
UTSW |
9 |
113,832,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Fbxl2
|
UTSW |
9 |
113,818,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3894:Fbxl2
|
UTSW |
9 |
113,832,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Fbxl2
|
UTSW |
9 |
113,818,231 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4342:Fbxl2
|
UTSW |
9 |
113,814,374 (GRCm39) |
missense |
probably benign |
|
|
R5310:Fbxl2
|
UTSW |
9 |
113,815,576 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5509:Fbxl2
|
UTSW |
9 |
113,814,415 (GRCm39) |
splice site |
probably null |
|
|
R5696:Fbxl2
|
UTSW |
9 |
113,815,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Fbxl2
|
UTSW |
9 |
113,815,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6371:Fbxl2
|
UTSW |
9 |
113,818,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Fbxl2
|
UTSW |
9 |
113,813,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Fbxl2
|
UTSW |
9 |
113,818,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Fbxl2
|
UTSW |
9 |
113,818,413 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTCTAACTGAGTGGATGG -3'
(R):5'- TTGGACTGAGGCATTCCTGG -3'
Sequencing Primer
(F):5'- CTCTAACTGAGTGGATGGAGGAAATG -3'
(R):5'- GGCATTCCTGGTGGCTTCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation