Incidental Mutation 'R5487:Fbxo24'
| ID |
430404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo24
|
| Ensembl Gene |
ENSMUSG00000089984 |
| Gene Name |
F-box protein 24 |
| Synonyms |
4933422D21Rik, Fbx24 |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5487 (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 137617094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 331
(G331E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031732]
[ENSMUST00000111002]
[ENSMUST00000136028]
|
| AlphaFold |
Q9D417 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031732
AA Change: G331E
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: G331E
| 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: G192E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: G192E
| 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: ENSMUST00000136028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196660
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
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 |
|
R5483:Fbxo24
|
UTSW |
5 |
137,617,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TTCCCAGGAAACTCAGCTCC -3'
(R):5'- AGCCTAAGGGAGACTATGGC -3'
Sequencing Primer
(F):5'- GGAAACTCAGCTCCAGAACTG -3'
(R):5'- TATGGCTAGGCTCCCAGGTATCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation