Incidental Mutation 'R7557:Fbxo28'
ID |
584818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo28
|
Ensembl Gene |
ENSMUSG00000047539 |
Gene Name |
F-box protein 28 |
Synonyms |
5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik |
MMRRC Submission |
045652-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.787)
|
Stock # |
R7557 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
182140667-182169171 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 182169000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 52
(A52E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051431]
[ENSMUST00000192544]
[ENSMUST00000194213]
[ENSMUST00000195061]
|
AlphaFold |
Q8BIG4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000051431
AA Change: A52E
|
SMART Domains |
Protein: ENSMUSP00000054718 Gene: ENSMUSG00000047539 AA Change: A52E
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: A52E
|
SMART Domains |
Protein: ENSMUSP00000141838 Gene: ENSMUSG00000047539 AA Change: A52E
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: A52E
|
SMART Domains |
Protein: ENSMUSP00000141219 Gene: ENSMUSG00000047539 AA Change: A52E
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: A46E
|
SMART Domains |
Protein: ENSMUSP00000141772 Gene: ENSMUSG00000047539 AA Change: A46E
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,044 (GRCm39) |
Q1078* |
probably null |
Het |
Aatk |
T |
C |
11: 119,900,256 (GRCm39) |
K1310R |
possibly damaging |
Het |
Acaa2 |
C |
T |
18: 74,928,230 (GRCm39) |
T153M |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,227,868 (GRCm39) |
T518A |
probably damaging |
Het |
Cacnb4 |
T |
C |
2: 52,359,579 (GRCm39) |
E143G |
probably damaging |
Het |
Cd209a |
T |
A |
8: 3,795,541 (GRCm39) |
T177S |
probably benign |
Het |
Chp1 |
T |
A |
2: 119,391,238 (GRCm39) |
Y32N |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,390,402 (GRCm39) |
T180A |
probably damaging |
Het |
Dctn2 |
C |
A |
10: 127,114,273 (GRCm39) |
T373N |
probably benign |
Het |
Dipk2a |
T |
C |
9: 94,402,591 (GRCm39) |
D357G |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,849,691 (GRCm39) |
Y483H |
possibly damaging |
Het |
Emb |
T |
A |
13: 117,386,252 (GRCm39) |
N136K |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,773,536 (GRCm39) |
C62S |
probably damaging |
Het |
Gask1b |
A |
T |
3: 79,793,915 (GRCm39) |
K128* |
probably null |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,548 (GRCm39) |
D253G |
probably damaging |
Het |
Gps1 |
C |
T |
11: 120,677,193 (GRCm39) |
A164V |
probably benign |
Het |
Gramd4 |
C |
T |
15: 85,985,101 (GRCm39) |
Q146* |
probably null |
Het |
Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,107 (GRCm39) |
T203A |
probably damaging |
Het |
Krt26 |
G |
T |
11: 99,225,567 (GRCm39) |
R305S |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,630,793 (GRCm39) |
V35A |
|
Het |
Marf1 |
C |
T |
16: 13,950,560 (GRCm39) |
R942H |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,056,758 (GRCm39) |
M411K |
possibly damaging |
Het |
Mok |
A |
G |
12: 110,774,833 (GRCm39) |
S330P |
probably benign |
Het |
Msto1 |
A |
G |
3: 88,817,435 (GRCm39) |
|
probably null |
Het |
Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
Or10w1 |
T |
A |
19: 13,632,390 (GRCm39) |
I199N |
possibly damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,855,847 (GRCm39) |
C747* |
probably null |
Het |
Pih1d1 |
A |
G |
7: 44,806,183 (GRCm39) |
T40A |
probably benign |
Het |
Pih1d2 |
A |
T |
9: 50,536,216 (GRCm39) |
E290D |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,753,848 (GRCm39) |
K1849E |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,372,271 (GRCm39) |
Y74H |
probably damaging |
Het |
Pole |
T |
G |
5: 110,460,860 (GRCm39) |
I1183S |
probably damaging |
Het |
Ptgs1 |
T |
C |
2: 36,135,223 (GRCm39) |
S396P |
possibly damaging |
Het |
Rasa2 |
T |
C |
9: 96,439,478 (GRCm39) |
E575G |
probably damaging |
Het |
Sec22b |
A |
G |
3: 97,808,674 (GRCm39) |
T5A |
probably damaging |
Het |
Slc18a1 |
T |
A |
8: 69,518,213 (GRCm39) |
D267V |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
Tcea1 |
T |
A |
1: 4,965,213 (GRCm39) |
C294* |
probably null |
Het |
Tut7 |
T |
C |
13: 59,936,280 (GRCm39) |
I1274V |
possibly damaging |
Het |
Txndc15 |
T |
A |
13: 55,865,767 (GRCm39) |
M77K |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 63,997,475 (GRCm39) |
V377D |
probably damaging |
Het |
Vmn2r7 |
A |
G |
3: 64,632,394 (GRCm39) |
Y23H |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,394,841 (GRCm39) |
M887K |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,995,196 (GRCm39) |
N63D |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGTTGGAGGGACAATACAC -3'
(R):5'- TTGGAGGAAGGAATCAAACTCCC -3'
Sequencing Primer
(F):5'- AGTGAACTCCAGAGCCCGAG -3'
(R):5'- TCAAACTCCCAAGATGGCGG -3'
|
Posted On |
2019-10-17 |