Incidental Mutation 'IGL00419:Fbxo24'
| ID |
5517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo24
|
| Ensembl Gene |
ENSMUSG00000089984 |
| Gene Name |
F-box protein 24 |
| Synonyms |
4933422D21Rik, Fbx24 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137610767-137623340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137622563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 68
(R68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031732]
[ENSMUST00000031734]
[ENSMUST00000111002]
[ENSMUST00000136028]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177545]
[ENSMUST00000177477]
|
| AlphaFold |
Q9D417 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031732
AA Change: R68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: R68C
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
29 |
69 |
1.48e-7 |
SMART |
|
Pfam:RCC1
|
386 |
432 |
2.2e-10 |
PFAM |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031734
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111002
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
247 |
293 |
4.2e-11 |
PFAM |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176011
|
| SMART Domains |
Protein: ENSMUSP00000135133
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176667
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
648 |
4.73e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176988
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177545
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177477
|
| SMART Domains |
Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| 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 the 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 Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
| Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
| Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
| Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
| Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
| Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
| Other mutations in Fbxo24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01872:Fbxo24
|
APN |
5 |
137,611,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Fbxo24
|
APN |
5 |
137,611,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Fbxo24
|
APN |
5 |
137,622,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02330:Fbxo24
|
APN |
5 |
137,619,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Fbxo24
|
UTSW |
5 |
137,620,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Fbxo24
|
UTSW |
5 |
137,620,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Fbxo24
|
UTSW |
5 |
137,620,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Fbxo24
|
UTSW |
5 |
137,622,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0990:Fbxo24
|
UTSW |
5 |
137,616,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1331:Fbxo24
|
UTSW |
5 |
137,617,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Fbxo24
|
UTSW |
5 |
137,611,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5483:Fbxo24
|
UTSW |
5 |
137,617,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5487:Fbxo24
|
UTSW |
5 |
137,617,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5954:Fbxo24
|
UTSW |
5 |
137,617,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Fbxo24
|
UTSW |
5 |
137,617,912 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6250:Fbxo24
|
UTSW |
5 |
137,619,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Fbxo24
|
UTSW |
5 |
137,611,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Fbxo24
|
UTSW |
5 |
137,619,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Fbxo24
|
UTSW |
5 |
137,617,885 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8017:Fbxo24
|
UTSW |
5 |
137,611,073 (GRCm39) |
missense |
probably benign |
|
|
R8775:Fbxo24
|
UTSW |
5 |
137,611,213 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8775-TAIL:Fbxo24
|
UTSW |
5 |
137,611,213 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9135:Fbxo24
|
UTSW |
5 |
137,622,526 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9357:Fbxo24
|
UTSW |
5 |
137,611,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0064:Fbxo24
|
UTSW |
5 |
137,619,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fbxo24
|
UTSW |
5 |
137,619,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fbxo24
|
UTSW |
5 |
137,619,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation