Incidental Mutation 'IGL03346:Fbxo3'
| ID |
417432 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo3
|
| Ensembl Gene |
ENSMUSG00000027180 |
| Gene Name |
F-box protein 3 |
| Synonyms |
Fba, 1700026K02Rik, 1200002G09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
IGL03346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
103858144-103893582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103880639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 250
(T250A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028603]
[ENSMUST00000102565]
[ENSMUST00000111135]
[ENSMUST00000111136]
|
| AlphaFold |
Q9DC63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028603
AA Change: T250A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
294 |
384 |
3.1e-30 |
PFAM |
|
coiled coil region
|
417 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102565
AA Change: T250A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
385 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111135
AA Change: T245A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: T245A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fs1a1
|
14 |
48 |
4e-3 |
SMART |
|
Blast:FBOX
|
16 |
51 |
2e-13 |
BLAST |
|
SMI1_KNR4
|
116 |
246 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
288 |
380 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111136
AA Change: T250A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
361 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143799
|
| 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. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
C |
T |
16: 29,133,422 (GRCm39) |
V410M |
probably benign |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,653 (GRCm39) |
D51E |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,802,282 (GRCm39) |
V2184A |
probably benign |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cldn23 |
G |
A |
8: 36,292,594 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,944,037 (GRCm39) |
I641F |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Creg2 |
T |
G |
1: 39,689,915 (GRCm39) |
D65A |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,795,808 (GRCm39) |
R711G |
possibly damaging |
Het |
| Efr3b |
A |
G |
12: 4,034,648 (GRCm39) |
V58A |
probably damaging |
Het |
| Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,935,474 (GRCm39) |
Y227N |
possibly damaging |
Het |
| Gins3 |
A |
G |
8: 96,369,903 (GRCm39) |
I197V |
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,338,879 (GRCm39) |
Y320C |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,479,001 (GRCm39) |
D83Y |
probably damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Klf1 |
T |
C |
8: 85,629,561 (GRCm39) |
S129P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nat8f5 |
A |
G |
6: 85,794,640 (GRCm39) |
S107P |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,581 (GRCm39) |
L267P |
possibly damaging |
Het |
| Or8g24 |
T |
A |
9: 38,989,258 (GRCm39) |
Q261L |
probably damaging |
Het |
| Or8g24 |
C |
A |
9: 38,989,257 (GRCm39) |
Q261H |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,674 (GRCm39) |
M1I |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,775,669 (GRCm39) |
H14R |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,889 (GRCm39) |
D825G |
probably benign |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 108,993,046 (GRCm39) |
|
probably benign |
Het |
| Smad9 |
C |
A |
3: 54,696,636 (GRCm39) |
Q234K |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,025 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Traf1 |
T |
C |
2: 34,838,484 (GRCm39) |
E118G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Uaca |
C |
A |
9: 60,761,600 (GRCm39) |
T204K |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,401,096 (GRCm39) |
Y154N |
probably benign |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,779,929 (GRCm39) |
D500G |
probably damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,693,253 (GRCm39) |
H449L |
probably benign |
Het |
|
| Other mutations in Fbxo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Fbxo3
|
APN |
2 |
103,864,021 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02187:Fbxo3
|
APN |
2 |
103,858,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02323:Fbxo3
|
APN |
2 |
103,878,296 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02941:Fbxo3
|
APN |
2 |
103,880,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03160:Fbxo3
|
APN |
2 |
103,860,692 (GRCm39) |
nonsense |
probably null |
|
|
associative
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
littleknown
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
overrated
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
transitory
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Fbxo3
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2899:Fbxo3
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Fbxo3
|
UTSW |
2 |
103,881,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Fbxo3
|
UTSW |
2 |
103,883,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Fbxo3
|
UTSW |
2 |
103,881,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Fbxo3
|
UTSW |
2 |
103,873,357 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7226:Fbxo3
|
UTSW |
2 |
103,880,642 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7577:Fbxo3
|
UTSW |
2 |
103,881,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7841:Fbxo3
|
UTSW |
2 |
103,890,337 (GRCm39) |
missense |
unknown |
|
|
R7897:Fbxo3
|
UTSW |
2 |
103,883,757 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8039:Fbxo3
|
UTSW |
2 |
103,885,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Fbxo3
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Fbxo3
|
UTSW |
2 |
103,885,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Fbxo3
|
UTSW |
2 |
103,864,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Fbxo3
|
UTSW |
2 |
103,881,553 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8960:Fbxo3
|
UTSW |
2 |
103,858,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation