Incidental Mutation 'IGL02078:Fbxo24'
| ID |
186040 |
| 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 # |
IGL02078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137610767-137623340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 137622611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 52
(T52P)
|
| 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: T52P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: T52P
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
| Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
| Cldn23 |
A |
T |
8: 36,293,359 (GRCm39) |
V43E |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
| Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
| Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
| Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
| Mobp |
G |
A |
9: 119,996,980 (GRCm39) |
R37H |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
| Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,771,880 (GRCm39) |
D635G |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
| Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,469 (GRCm39) |
I15M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
| Wdtc1 |
C |
A |
4: 133,033,271 (GRCm39) |
D176Y |
probably damaging |
Het |
|
| Other mutations in Fbxo24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Fbxo24
|
APN |
5 |
137,622,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation