Incidental Mutation 'R5483:Fbxo24'
| ID |
434431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo24
|
| Ensembl Gene |
ENSMUSG00000089984 |
| Gene Name |
F-box protein 24 |
| Synonyms |
4933422D21Rik, Fbx24 |
| MMRRC Submission |
043044-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5483 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137610767-137623340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137617002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 362
(A362T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031732]
[ENSMUST00000111002]
[ENSMUST00000124693]
[ENSMUST00000136028]
[ENSMUST00000155251]
|
| AlphaFold |
Q9D417 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031732
AA Change: A362T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: A362T
| 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 |
possibly damaging
Transcript: ENSMUST00000111002
AA Change: A223T
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: A223T
| 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 |
probably benign
Transcript: ENSMUST00000136028
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000196660
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,949,615 (GRCm39) |
Y524C |
probably damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
| Enkur |
A |
T |
2: 21,199,109 (GRCm39) |
F142I |
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
| Klf11 |
T |
A |
12: 24,705,410 (GRCm39) |
L288* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
| Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,783 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
| Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,832,013 (GRCm39) |
S611R |
probably damaging |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
| Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
| Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
| Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGAGCCACTCTGTTCCC -3'
(R):5'- GACTTCCTGCAATCATTCAGC -3'
Sequencing Primer
(F):5'- TGTTCCCAGGAAACTCAGCTC -3'
(R):5'- AGCTTTTACCATCACAGGTGGGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation