Incidental Mutation 'IGL02066:Fbxo24'
| ID |
185667 |
| 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 # |
IGL02066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137610767-137623340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137611132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 553
(V553M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000031732]
[ENSMUST00000054564]
[ENSMUST00000111002]
[ENSMUST00000124693]
[ENSMUST00000155251]
[ENSMUST00000136028]
[ENSMUST00000197912]
[ENSMUST00000142675]
|
| AlphaFold |
Q9D417 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031731
|
| SMART Domains |
Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CUB
|
36 |
148 |
3.79e-43 |
SMART |
|
CUB
|
158 |
272 |
3e-46 |
SMART |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
C345C
|
352 |
458 |
3.92e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031732
AA Change: V553M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: V553M
| 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: ENSMUST00000054564
|
| SMART Domains |
Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CUB
|
36 |
148 |
3.79e-43 |
SMART |
|
CUB
|
183 |
297 |
3e-46 |
SMART |
|
low complexity region
|
324 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
363 |
N/A |
INTRINSIC |
|
C345C
|
377 |
483 |
3.92e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111002
AA Change: V414M
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: V414M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
247 |
293 |
4.2e-11 |
PFAM |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124693
|
| SMART Domains |
Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CUB
|
1 |
63 |
2.4e-12 |
PFAM |
|
Pfam:CUB
|
76 |
124 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155251
|
| SMART Domains |
Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
8 |
111 |
1.92e-21 |
SMART |
|
Pfam:CUB
|
121 |
169 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197912
|
| SMART Domains |
Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
1 |
107 |
2.2e-36 |
SMART |
|
C345C
|
130 |
236 |
1.3e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142675
|
| SMART Domains |
Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
18 |
130 |
3.79e-43 |
SMART |
|
CUB
|
140 |
214 |
2.16e-6 |
SMART |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,626,854 (GRCm39) |
C569S |
probably damaging |
Het |
| Adck5 |
T |
C |
15: 76,479,406 (GRCm39) |
V487A |
probably damaging |
Het |
| Agfg1 |
A |
G |
1: 82,871,279 (GRCm39) |
T483A |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,236 (GRCm39) |
T82A |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,667,702 (GRCm39) |
L6Q |
probably benign |
Het |
| Anp32a |
G |
A |
9: 62,284,615 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,164,058 (GRCm39) |
R1133H |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,818,441 (GRCm39) |
A871D |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,675,185 (GRCm39) |
V624A |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,492,990 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
T |
G |
3: 144,519,216 (GRCm39) |
D320A |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,566,212 (GRCm39) |
Q201R |
possibly damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,602,602 (GRCm39) |
R99C |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,976,594 (GRCm39) |
F2875I |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,243,203 (GRCm39) |
Y246C |
probably damaging |
Het |
| Dsc1 |
A |
G |
18: 20,241,860 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
G |
A |
15: 75,768,704 (GRCm39) |
T464I |
probably benign |
Het |
| Efna2 |
C |
T |
10: 80,024,500 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Etaa1 |
C |
A |
11: 17,896,687 (GRCm39) |
V477L |
probably benign |
Het |
| Fam83d |
C |
T |
2: 158,627,793 (GRCm39) |
T494M |
probably benign |
Het |
| Gal3st2 |
A |
G |
1: 93,801,379 (GRCm39) |
T12A |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,570,175 (GRCm39) |
T373I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,912,744 (GRCm39) |
C154S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,001,091 (GRCm39) |
C2044* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,427,900 (GRCm39) |
S1564* |
probably null |
Het |
| Manea |
A |
T |
4: 26,340,965 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,438,982 (GRCm39) |
L168P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,350,408 (GRCm39) |
E2244G |
possibly damaging |
Het |
| Nsd3 |
T |
G |
8: 26,203,515 (GRCm39) |
V1343G |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,187,250 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,568,628 (GRCm39) |
I83V |
probably benign |
Het |
| Or12k5 |
A |
T |
2: 36,895,321 (GRCm39) |
F102I |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,413 (GRCm39) |
T116S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,331,241 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,736,303 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,365 (GRCm39) |
I971F |
possibly damaging |
Het |
| Ppp6c |
T |
C |
2: 39,089,683 (GRCm39) |
T199A |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,333,308 (GRCm39) |
T3A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Rptn |
A |
C |
3: 93,304,436 (GRCm39) |
S590R |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,115,482 (GRCm39) |
D947G |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,575 (GRCm39) |
T229A |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,744,719 (GRCm39) |
M423K |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,329,015 (GRCm39) |
I111N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,252,519 (GRCm39) |
L561I |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,195,358 (GRCm39) |
N222D |
probably benign |
Het |
| Spp2 |
G |
A |
1: 88,344,965 (GRCm39) |
M54I |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,940 (GRCm39) |
E847G |
possibly damaging |
Het |
| Timd2 |
T |
A |
11: 46,569,050 (GRCm39) |
N203Y |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,030,195 (GRCm39) |
D1000Y |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,663,604 (GRCm39) |
R258C |
probably damaging |
Het |
| Uts2r |
A |
C |
11: 121,051,523 (GRCm39) |
D129A |
probably damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,191 (GRCm39) |
M585I |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,836 (GRCm39) |
R518* |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,871,523 (GRCm39) |
R296K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,356,415 (GRCm39) |
K3725N |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,727,036 (GRCm39) |
S142P |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,678 (GRCm39) |
H372R |
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 |
|
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 |
2014-05-07 |
Incidental Mutation