Incidental Mutation 'R5720:Fbxl7'
ID |
451423 |
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 |
043188-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5720 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
26540540-26895650 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26552979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 96
(L96P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059204]
|
AlphaFold |
Q5BJ29 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059204
AA Change: L96P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061305 Gene: ENSMUSG00000043556 AA Change: L96P
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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 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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
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 |
R3704: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 |
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'- AGTACTTTCAGGGCACGGTC -3'
(R):5'- TCCTTTGGCAGATTCTGACTTGAG -3'
Sequencing Primer
(F):5'- TCTCTCCAGTGAGACGGATAG -3'
(R):5'- CAGATTCTGACTTGAGCATGCGC -3'
|
Posted On |
2017-01-03 |