Incidental Mutation 'IGL01979:Fbxl7'
| ID |
181808 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl7
|
| Ensembl Gene |
ENSMUSG00000043556 |
| Gene Name |
F-box and leucine-rich repeat protein 7 |
| Synonyms |
FBL7, Fbl6, D230018M15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
26540540-26895650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26789649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 26
(S26I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059204]
|
| AlphaFold |
Q5BJ29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059204
AA Change: S26I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: S26I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226377
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
| Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
probably benign |
Het |
|
| Other mutations in Fbxl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation