Incidental Mutation 'IGL01483:Fbxo7'
| ID |
88682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo7
|
| Ensembl Gene |
ENSMUSG00000001786 |
| Gene Name |
F-box protein 7 |
| Synonyms |
2410015K21Rik, A230052G17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85857836-85887737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85880445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 298
(Y298H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001837]
[ENSMUST00000117597]
[ENSMUST00000120344]
[ENSMUST00000130320]
|
| AlphaFold |
Q3U7U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001837
|
| SMART Domains |
Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
40 |
7e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117597
AA Change: Y296H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: Y296H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI31_Prot_N
|
101 |
245 |
9.6e-31 |
PFAM |
|
Pfam:F-box
|
250 |
297 |
2.7e-6 |
PFAM |
|
Pfam:F-box-like
|
252 |
298 |
7.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120344
AA Change: Y298H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: Y298H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI31_Prot_N
|
103 |
247 |
4.8e-31 |
PFAM |
|
Pfam:F-box
|
252 |
299 |
1.8e-6 |
PFAM |
|
Pfam:F-box-like
|
254 |
300 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130320
AA Change: Y377H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: Y377H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
78 |
7e-6 |
SMART |
|
Blast:UBQ
|
1 |
79 |
6e-30 |
BLAST |
|
Pfam:PI31_Prot_N
|
188 |
323 |
4.7e-20 |
PFAM |
|
Pfam:F-box
|
331 |
378 |
9.7e-6 |
PFAM |
|
Pfam:F-box-like
|
333 |
379 |
9.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134490
|
| 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 and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(4) Gene trapped(3)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
| Other mutations in Fbxo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Fbxo7
|
APN |
10 |
85,864,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02502:Fbxo7
|
APN |
10 |
85,869,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Fbxo7
|
APN |
10 |
85,860,302 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
P0007:Fbxo7
|
UTSW |
10 |
85,869,157 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0410:Fbxo7
|
UTSW |
10 |
85,865,102 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4119:Fbxo7
|
UTSW |
10 |
85,857,759 (GRCm39) |
unclassified |
probably benign |
|
|
R4604:Fbxo7
|
UTSW |
10 |
85,882,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Fbxo7
|
UTSW |
10 |
85,865,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5088:Fbxo7
|
UTSW |
10 |
85,857,784 (GRCm39) |
unclassified |
probably benign |
|
|
R5286:Fbxo7
|
UTSW |
10 |
85,857,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Fbxo7
|
UTSW |
10 |
85,860,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5451:Fbxo7
|
UTSW |
10 |
85,864,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5491:Fbxo7
|
UTSW |
10 |
85,883,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Fbxo7
|
UTSW |
10 |
85,869,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5647:Fbxo7
|
UTSW |
10 |
85,864,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6027:Fbxo7
|
UTSW |
10 |
85,883,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Fbxo7
|
UTSW |
10 |
85,860,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6280:Fbxo7
|
UTSW |
10 |
85,864,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6615:Fbxo7
|
UTSW |
10 |
85,880,398 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7405:Fbxo7
|
UTSW |
10 |
85,880,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Fbxo7
|
UTSW |
10 |
85,860,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9743:Fbxo7
|
UTSW |
10 |
85,883,773 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2013-11-18 |
Incidental Mutation