Incidental Mutation 'IGL02535:Fbxl2'
| ID |
297466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl2
|
| Ensembl Gene |
ENSMUSG00000032507 |
| Gene Name |
F-box and leucine-rich repeat protein 2 |
| Synonyms |
Fbl3, 2810423A21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
113787625-113855871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113808575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 372
(E372G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009885]
[ENSMUST00000035090]
[ENSMUST00000084885]
[ENSMUST00000116492]
[ENSMUST00000117537]
[ENSMUST00000143180]
[ENSMUST00000216558]
[ENSMUST00000214095]
|
| AlphaFold |
Q8BH16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009885
|
| SMART Domains |
Protein: ENSMUSP00000009885
Gene: ENSMUSG00000009741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
37 |
259 |
1.6e-76 |
PFAM |
|
SCOP:d1kw4a_
|
333 |
381 |
5e-3 |
SMART |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035090
AA Change: E372G
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: E372G
| 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 |
probably benign
Transcript: ENSMUST00000084885
|
| SMART Domains |
Protein: ENSMUSP00000081946
Gene: ENSMUSG00000009741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
42 |
257 |
3e-62 |
PFAM |
|
SCOP:d1kw4a_
|
369 |
417 |
6e-3 |
SMART |
|
low complexity region
|
445 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116492
|
| SMART Domains |
Protein: ENSMUSP00000112192
Gene: ENSMUSG00000009741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
37 |
259 |
1.6e-76 |
PFAM |
|
SCOP:d1kw4a_
|
333 |
381 |
5e-3 |
SMART |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117537
AA Change: E372G
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: E372G
| 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: ENSMUST00000139757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214095
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,773,520 (GRCm39) |
N430D |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,807,136 (GRCm39) |
D486E |
possibly damaging |
Het |
| Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
| Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
| Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
| Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,790 (GRCm39) |
E347G |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
| Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
| Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
| Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
| Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
| Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
| P2rx2 |
T |
A |
5: 110,490,219 (GRCm39) |
T134S |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
| Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
| Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
| Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,667 (GRCm39) |
R294* |
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
| Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R2993:Fbxl2
|
UTSW |
9 |
113,818,484 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation