Incidental Mutation 'R4333:Fbxw7'
| ID |
323659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw7
|
| Ensembl Gene |
ENSMUSG00000028086 |
| Gene Name |
F-box and WD-40 domain protein 7 |
| Synonyms |
Fbxw6, 1110001A17Rik, Cdc4, SEL-10, Fbxo30, AGO, Fbw7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4333 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
84722575-84886505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84879802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 375
(C375R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029727]
[ENSMUST00000107675]
[ENSMUST00000107678]
[ENSMUST00000107679]
[ENSMUST00000154148]
|
| AlphaFold |
Q8VBV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029727
AA Change: C375R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029727
Gene: ENSMUSG00000028086
AA Change: C375R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
146 |
N/A |
INTRINSIC |
|
FBOX
|
206 |
246 |
3.7e-8 |
SMART |
|
WD40
|
291 |
329 |
3.14e-6 |
SMART |
|
WD40
|
332 |
369 |
2.1e-7 |
SMART |
|
WD40
|
372 |
409 |
7.55e-9 |
SMART |
|
WD40
|
412 |
449 |
2.22e-6 |
SMART |
|
WD40
|
452 |
489 |
1.07e-8 |
SMART |
|
WD40
|
492 |
529 |
1.75e-4 |
SMART |
|
WD40
|
532 |
572 |
2.32e-9 |
SMART |
|
WD40
|
575 |
623 |
2.37e2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107675
AA Change: C335R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: C335R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
106 |
N/A |
INTRINSIC |
|
FBOX
|
166 |
206 |
3.7e-8 |
SMART |
|
WD40
|
251 |
289 |
3.14e-6 |
SMART |
|
WD40
|
292 |
329 |
2.1e-7 |
SMART |
|
WD40
|
332 |
369 |
7.55e-9 |
SMART |
|
WD40
|
372 |
409 |
2.22e-6 |
SMART |
|
WD40
|
412 |
449 |
1.07e-8 |
SMART |
|
WD40
|
452 |
489 |
1.75e-4 |
SMART |
|
WD40
|
492 |
532 |
2.32e-9 |
SMART |
|
WD40
|
535 |
583 |
2.37e2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107678
AA Change: C456R
PolyPhen 2
Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086
AA Change: C456R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
94 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
227 |
N/A |
INTRINSIC |
|
FBOX
|
287 |
327 |
3.7e-8 |
SMART |
|
WD40
|
372 |
410 |
3.14e-6 |
SMART |
|
WD40
|
413 |
450 |
2.1e-7 |
SMART |
|
WD40
|
453 |
490 |
7.55e-9 |
SMART |
|
WD40
|
493 |
530 |
2.22e-6 |
SMART |
|
WD40
|
533 |
570 |
1.07e-8 |
SMART |
|
WD40
|
573 |
610 |
1.75e-4 |
SMART |
|
WD40
|
613 |
653 |
2.32e-9 |
SMART |
|
WD40
|
656 |
704 |
2.37e2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107679
AA Change: C456R
PolyPhen 2
Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086
AA Change: C456R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
94 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
227 |
N/A |
INTRINSIC |
|
FBOX
|
287 |
327 |
3.7e-8 |
SMART |
|
WD40
|
372 |
410 |
3.14e-6 |
SMART |
|
WD40
|
413 |
450 |
2.1e-7 |
SMART |
|
WD40
|
453 |
490 |
7.55e-9 |
SMART |
|
WD40
|
493 |
530 |
2.22e-6 |
SMART |
|
WD40
|
533 |
570 |
1.07e-8 |
SMART |
|
WD40
|
573 |
610 |
1.75e-4 |
SMART |
|
WD40
|
613 |
653 |
2.32e-9 |
SMART |
|
WD40
|
656 |
704 |
2.37e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| 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 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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this locus disrupts embryonic and extraembryonic vasculature, resulting in death by midgestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,246 (GRCm39) |
V193I |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,467,031 (GRCm38) |
R967H |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,598,722 (GRCm39) |
D647G |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,551,632 (GRCm39) |
*164R |
probably null |
Het |
| Ddx18 |
A |
T |
1: 121,492,331 (GRCm39) |
D125E |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,492,186 (GRCm39) |
I353V |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,179,009 (GRCm39) |
F1429S |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,742,523 (GRCm39) |
K621E |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,884 (GRCm39) |
I152T |
possibly damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,176 (GRCm39) |
L203I |
possibly damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,827 (GRCm39) |
T98A |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,087,031 (GRCm39) |
K280R |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,884,745 (GRCm39) |
N511S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,199 (GRCm39) |
N786S |
probably damaging |
Het |
|
| Other mutations in Fbxw7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Fbxw7
|
APN |
3 |
84,876,616 (GRCm39) |
intron |
probably benign |
|
|
IGL01468:Fbxw7
|
APN |
3 |
84,879,806 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01946:Fbxw7
|
APN |
3 |
84,811,369 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02248:Fbxw7
|
APN |
3 |
84,810,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02630:Fbxw7
|
APN |
3 |
84,872,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Fbxw7
|
APN |
3 |
84,883,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4453001:Fbxw7
|
UTSW |
3 |
84,872,621 (GRCm39) |
missense |
|
|
|
R0043:Fbxw7
|
UTSW |
3 |
84,879,874 (GRCm39) |
intron |
probably benign |
|
|
R0312:Fbxw7
|
UTSW |
3 |
84,874,876 (GRCm39) |
intron |
probably benign |
|
|
R0595:Fbxw7
|
UTSW |
3 |
84,884,674 (GRCm39) |
splice site |
probably null |
|
|
R1664:Fbxw7
|
UTSW |
3 |
84,876,478 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1709:Fbxw7
|
UTSW |
3 |
84,883,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Fbxw7
|
UTSW |
3 |
84,811,126 (GRCm39) |
missense |
probably benign |
|
|
R1974:Fbxw7
|
UTSW |
3 |
84,862,242 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2081:Fbxw7
|
UTSW |
3 |
84,881,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2843:Fbxw7
|
UTSW |
3 |
84,883,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Fbxw7
|
UTSW |
3 |
84,833,014 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3732:Fbxw7
|
UTSW |
3 |
84,833,014 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3733:Fbxw7
|
UTSW |
3 |
84,833,014 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4335:Fbxw7
|
UTSW |
3 |
84,879,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Fbxw7
|
UTSW |
3 |
84,874,852 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4776:Fbxw7
|
UTSW |
3 |
84,832,996 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4799:Fbxw7
|
UTSW |
3 |
84,811,168 (GRCm39) |
nonsense |
probably null |
|
|
R4822:Fbxw7
|
UTSW |
3 |
84,874,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5512:Fbxw7
|
UTSW |
3 |
84,862,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5601:Fbxw7
|
UTSW |
3 |
84,883,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Fbxw7
|
UTSW |
3 |
84,884,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Fbxw7
|
UTSW |
3 |
84,859,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6182:Fbxw7
|
UTSW |
3 |
84,723,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6219:Fbxw7
|
UTSW |
3 |
84,876,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Fbxw7
|
UTSW |
3 |
84,883,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:Fbxw7
|
UTSW |
3 |
84,859,687 (GRCm39) |
intron |
probably benign |
|
|
R6823:Fbxw7
|
UTSW |
3 |
84,865,934 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6922:Fbxw7
|
UTSW |
3 |
84,879,723 (GRCm39) |
splice site |
probably null |
|
|
R7163:Fbxw7
|
UTSW |
3 |
84,832,892 (GRCm39) |
intron |
probably benign |
|
|
R7229:Fbxw7
|
UTSW |
3 |
84,884,676 (GRCm39) |
missense |
unknown |
|
|
R7554:Fbxw7
|
UTSW |
3 |
84,883,620 (GRCm39) |
missense |
|
|
|
R7677:Fbxw7
|
UTSW |
3 |
84,811,373 (GRCm39) |
missense |
|
|
|
R7711:Fbxw7
|
UTSW |
3 |
84,832,988 (GRCm39) |
missense |
probably benign |
|
|
R7713:Fbxw7
|
UTSW |
3 |
84,874,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7873:Fbxw7
|
UTSW |
3 |
84,833,071 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8319:Fbxw7
|
UTSW |
3 |
84,881,859 (GRCm39) |
missense |
|
|
|
R8712:Fbxw7
|
UTSW |
3 |
84,859,684 (GRCm39) |
missense |
unknown |
|
|
R8802:Fbxw7
|
UTSW |
3 |
84,859,693 (GRCm39) |
missense |
unknown |
|
|
R8805:Fbxw7
|
UTSW |
3 |
84,862,227 (GRCm39) |
missense |
|
|
|
R8887:Fbxw7
|
UTSW |
3 |
84,876,549 (GRCm39) |
missense |
|
|
|
R8905:Fbxw7
|
UTSW |
3 |
84,872,634 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9358:Fbxw7
|
UTSW |
3 |
84,883,561 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCCTAGTGCTTCAGTAAAGTTG -3'
(R):5'- CGGACCATCTGCACTATATCC -3'
Sequencing Primer
(F):5'- TTAGTGTAGTCTTTGACTTACTTGC -3'
(R):5'- ATATCCTTAGTGTCCACTCCAAGAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation