Incidental Mutation 'R3704:Fbxl7'
| ID |
258674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl7
|
| Ensembl Gene |
ENSMUSG00000043556 |
| Gene Name |
F-box and leucine-rich repeat protein 7 |
| Synonyms |
FBL7, Fbl6, D230018M15Rik |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
26540540-26895650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26543841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 269
(G269C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059204]
|
| AlphaFold |
Q5BJ29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059204
AA Change: G269C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: G269C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
79 |
N/A |
INTRINSIC |
|
FBOX
|
117 |
157 |
2.7e-11 |
SMART |
|
LRR_CC
|
185 |
210 |
2e-7 |
SMART |
|
LRR_CC
|
211 |
236 |
2.1e-7 |
SMART |
|
LRR
|
237 |
262 |
6.3e-7 |
SMART |
|
LRR
|
271 |
296 |
3.5e-1 |
SMART |
|
LRR_CC
|
297 |
322 |
1.7e-8 |
SMART |
|
LRR_CC
|
323 |
348 |
5.5e-8 |
SMART |
|
LRR_CC
|
349 |
374 |
6.5e-8 |
SMART |
|
LRR_CC
|
375 |
400 |
9.1e-10 |
SMART |
|
LRR_CC
|
401 |
426 |
2.1e-8 |
SMART |
|
LRR_CC
|
427 |
452 |
1.8e-7 |
SMART |
|
Blast:LRR
|
453 |
477 |
2e-7 |
BLAST |
|
| Meta Mutation Damage Score |
0.3308 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| 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 a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
probably benign |
Het |
|
| Other mutations in Fbxl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Fbxl7
|
APN |
15 |
26,789,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0482:Fbxl7
|
UTSW |
15 |
26,543,632 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1734:Fbxl7
|
UTSW |
15 |
26,543,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Fbxl7
|
UTSW |
15 |
26,552,851 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1859:Fbxl7
|
UTSW |
15 |
26,543,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2410:Fbxl7
|
UTSW |
15 |
26,895,111 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3703:Fbxl7
|
UTSW |
15 |
26,543,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Fbxl7
|
UTSW |
15 |
26,552,905 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4387:Fbxl7
|
UTSW |
15 |
26,543,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Fbxl7
|
UTSW |
15 |
26,553,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5070:Fbxl7
|
UTSW |
15 |
26,789,640 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5180:Fbxl7
|
UTSW |
15 |
26,543,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Fbxl7
|
UTSW |
15 |
26,543,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Fbxl7
|
UTSW |
15 |
26,552,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6256:Fbxl7
|
UTSW |
15 |
26,553,088 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6874:Fbxl7
|
UTSW |
15 |
26,553,028 (GRCm39) |
missense |
probably benign |
|
|
R7143:Fbxl7
|
UTSW |
15 |
26,543,244 (GRCm39) |
missense |
probably benign |
|
|
R7941:Fbxl7
|
UTSW |
15 |
26,543,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Fbxl7
|
UTSW |
15 |
26,552,902 (GRCm39) |
missense |
probably benign |
|
|
R9211:Fbxl7
|
UTSW |
15 |
26,789,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9402:Fbxl7
|
UTSW |
15 |
26,552,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGTCACTGACAAAGCGG -3'
(R):5'- CGGAAGTGTTAACCCCTGTG -3'
Sequencing Primer
(F):5'- TGACACTCAGCTCCTTGATGGAAG -3'
(R):5'- ACCCCTGTGTTTTAGCTAGAGAGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation