Incidental Mutation 'IGL00519:Fbxo7'
| ID |
6096 |
| 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 # |
IGL00519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85857836-85887737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85864928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 77
(E77V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001837]
[ENSMUST00000117597]
[ENSMUST00000120344]
[ENSMUST00000130320]
[ENSMUST00000147168]
|
| 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: E77V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: E77V
| 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 |
possibly damaging
Transcript: ENSMUST00000120344
AA Change: E79V
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: E79V
| 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 |
possibly damaging
Transcript: ENSMUST00000130320
AA Change: E158V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: E158V
| 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: ENSMUST00000134490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147168
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
| Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
| Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
| Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
| Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
| Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
| Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
| Other mutations in Fbxo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Fbxo7
|
APN |
10 |
85,880,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation