Incidental Mutation 'IGL03269:Fbxo28'
| ID |
415204 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo28
|
| Ensembl Gene |
ENSMUSG00000047539 |
| Gene Name |
F-box protein 28 |
| Synonyms |
5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
182140667-182169171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 182144583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 327
(V327A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051431]
[ENSMUST00000192544]
[ENSMUST00000194213]
[ENSMUST00000195061]
|
| AlphaFold |
Q8BIG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051431
AA Change: V327A
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: V327A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
63 |
94 |
7.8e-6 |
PFAM |
|
coiled coil region
|
273 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192544
|
| SMART Domains |
Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
62 |
101 |
8.7e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194213
|
| SMART Domains |
Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
63 |
101 |
2e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195061
|
| SMART Domains |
Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
49 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
56 |
95 |
1.1e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
Het |
|
| Other mutations in Fbxo28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Fbxo28
|
APN |
1 |
182,144,577 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02936:Fbxo28
|
APN |
1 |
182,169,093 (GRCm39) |
missense |
unknown |
|
|
R0040:Fbxo28
|
UTSW |
1 |
182,153,805 (GRCm39) |
intron |
probably benign |
|
|
R0394:Fbxo28
|
UTSW |
1 |
182,144,580 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1800:Fbxo28
|
UTSW |
1 |
182,169,099 (GRCm39) |
missense |
unknown |
|
|
R1846:Fbxo28
|
UTSW |
1 |
182,153,845 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1891:Fbxo28
|
UTSW |
1 |
182,145,389 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2113:Fbxo28
|
UTSW |
1 |
182,157,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2698:Fbxo28
|
UTSW |
1 |
182,144,719 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4022:Fbxo28
|
UTSW |
1 |
182,157,475 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4952:Fbxo28
|
UTSW |
1 |
182,153,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Fbxo28
|
UTSW |
1 |
182,145,558 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6196:Fbxo28
|
UTSW |
1 |
182,157,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6233:Fbxo28
|
UTSW |
1 |
182,169,073 (GRCm39) |
missense |
unknown |
|
|
R6920:Fbxo28
|
UTSW |
1 |
182,168,986 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6935:Fbxo28
|
UTSW |
1 |
182,169,025 (GRCm39) |
missense |
unknown |
|
|
R7557:Fbxo28
|
UTSW |
1 |
182,169,000 (GRCm39) |
missense |
unknown |
|
|
R8906:Fbxo28
|
UTSW |
1 |
182,144,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Fbxo28
|
UTSW |
1 |
182,157,526 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9245:Fbxo28
|
UTSW |
1 |
182,145,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Fbxo28
|
UTSW |
1 |
182,145,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation