Incidental Mutation 'IGL02936:Fbxo28'
| ID |
364335 |
| 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: 0.789)
|
| Stock # |
IGL02936
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
182140667-182169171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 182169093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 15
(G15D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051431]
[ENSMUST00000192544]
[ENSMUST00000194213]
[ENSMUST00000195061]
|
| AlphaFold |
Q8BIG4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000051431
AA Change: G21D
|
| SMART Domains |
Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: G21D
| 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 |
unknown
Transcript: ENSMUST00000192544
AA Change: G21D
|
| SMART Domains |
Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539
AA Change: G21D
| 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 |
unknown
Transcript: ENSMUST00000194213
AA Change: G21D
|
| SMART Domains |
Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
AA Change: G21D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
63 |
101 |
2e-5 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195061
AA Change: G15D
|
| SMART Domains |
Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539
AA Change: G15D
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,165,687 (GRCm39) |
T229I |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,990,711 (GRCm39) |
S439P |
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,818,796 (GRCm39) |
N148I |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,785,833 (GRCm39) |
I860V |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,302,173 (GRCm39) |
I125T |
probably benign |
Het |
| Atp13a2 |
G |
T |
4: 140,729,260 (GRCm39) |
L614F |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,274,854 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,912,482 (GRCm39) |
D135G |
probably damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,511 (GRCm39) |
F614L |
probably damaging |
Het |
| Csn3 |
T |
G |
5: 88,077,992 (GRCm39) |
I166S |
possibly damaging |
Het |
| Dna2 |
T |
G |
10: 62,792,879 (GRCm39) |
L298R |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,673,612 (GRCm39) |
S387P |
probably benign |
Het |
| Fbxw24 |
A |
T |
9: 109,454,026 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
T |
A |
4: 99,545,052 (GRCm39) |
V64E |
probably benign |
Het |
| Galnt7 |
A |
C |
8: 58,037,248 (GRCm39) |
V47G |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,131,962 (GRCm39) |
L1453F |
probably damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,082,919 (GRCm39) |
V72I |
probably benign |
Het |
| Gm10269 |
A |
C |
18: 20,816,010 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
G |
1: 150,573,273 (GRCm39) |
Q2125H |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,289,702 (GRCm39) |
I173M |
possibly damaging |
Het |
| Llcfc1 |
T |
A |
6: 41,661,593 (GRCm39) |
S48T |
probably benign |
Het |
| Met |
G |
T |
6: 17,553,396 (GRCm39) |
V1061F |
probably damaging |
Het |
| Mthfd2 |
G |
A |
6: 83,288,342 (GRCm39) |
H138Y |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,452,554 (GRCm39) |
D1041E |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,058,346 (GRCm39) |
|
probably null |
Het |
| Nos3 |
C |
T |
5: 24,585,991 (GRCm39) |
T878I |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,128 (GRCm39) |
M177T |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,979,212 (GRCm39) |
Y62* |
probably null |
Het |
| Pbrm1 |
T |
A |
14: 30,783,470 (GRCm39) |
V497D |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,267 (GRCm39) |
E471G |
probably damaging |
Het |
| Poc1a |
A |
G |
9: 106,162,226 (GRCm39) |
T84A |
probably damaging |
Het |
| Ppm1f |
A |
G |
16: 16,733,100 (GRCm39) |
H209R |
probably damaging |
Het |
| Rccd1 |
T |
A |
7: 79,966,794 (GRCm39) |
K329N |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,678,865 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc22a26 |
A |
C |
19: 7,768,470 (GRCm39) |
F196V |
probably damaging |
Het |
| Tial1 |
G |
A |
7: 128,044,387 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,946,193 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,803 (GRCm39) |
K224* |
probably null |
Het |
| Wdr72 |
A |
T |
9: 74,059,862 (GRCm39) |
D424V |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,999,384 (GRCm39) |
K308E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,492,956 (GRCm39) |
S193P |
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 |
|
IGL03269:Fbxo28
|
APN |
1 |
182,144,583 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2015-12-18 |
Incidental Mutation