Incidental Mutation 'R5491:Fbxo7'
| ID |
432089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo7
|
| Ensembl Gene |
ENSMUSG00000001786 |
| Gene Name |
F-box protein 7 |
| Synonyms |
2410015K21Rik, A230052G17Rik |
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85857836-85887737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85883890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 497
(P497Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120840
(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: P416Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: P416Q
| 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: P418Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: P418Q
| 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: P497Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: P497Q
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAATCATTGGTGGTG -3'
(R):5'- ATCCCAGAGGTGAACCAGAG -3'
Sequencing Primer
(F):5'- CCAGGAATCATTGGTGGTGAATATG -3'
(R):5'- TGAGCAACCTTGTCCTTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation