Incidental Mutation 'R4249:Fbxw5'
| ID |
320518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw5
|
| Ensembl Gene |
ENSMUSG00000015095 |
| Gene Name |
F-box and WD-40 domain protein 5 |
| Synonyms |
Fbw5 |
| MMRRC Submission |
041065-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R4249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25390762-25395482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25393472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 233
(N233K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015227]
[ENSMUST00000015239]
[ENSMUST00000040042]
[ENSMUST00000124375]
|
| AlphaFold |
Q9QXW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015227
|
| SMART Domains |
Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
14 |
152 |
3.3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015239
AA Change: N233K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: N233K
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
49 |
7.7e-6 |
SMART |
|
WD40
|
81 |
120 |
3.11e-10 |
SMART |
|
WD40
|
456 |
500 |
1.98e1 |
SMART |
|
WD40
|
503 |
542 |
6.28e-6 |
SMART |
|
low complexity region
|
553 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040042
|
| SMART Domains |
Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
48 |
186 |
3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124258
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124375
AA Change: N24K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: N24K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
116 |
246 |
1e-11 |
SMART |
|
Blast:WD40
|
172 |
216 |
2e-25 |
BLAST |
|
Blast:WD40
|
219 |
246 |
7e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149062
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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, members of which are 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 three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ankrd39 |
A |
G |
1: 36,586,236 (GRCm39) |
S11P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,338,978 (GRCm39) |
S324G |
probably benign |
Het |
| Atl3 |
T |
C |
19: 7,509,703 (GRCm39) |
V477A |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,447,525 (GRCm39) |
T151A |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,365,296 (GRCm39) |
T718A |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,283,462 (GRCm39) |
R843C |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,430,341 (GRCm39) |
D316E |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,175,127 (GRCm39) |
V1862A |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,831 (GRCm39) |
F75L |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gimd1 |
T |
C |
3: 132,350,169 (GRCm39) |
V144A |
possibly damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,768,176 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,637 (GRCm39) |
D459N |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,576,200 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,399,135 (GRCm39) |
V999E |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,376 (GRCm39) |
L460P |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,715 (GRCm39) |
M206T |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,552 (GRCm39) |
N213K |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,326,745 (GRCm39) |
I591T |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,765 (GRCm39) |
E860G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,959 (GRCm39) |
T793A |
probably benign |
Het |
| Ropn1 |
C |
T |
16: 34,498,826 (GRCm39) |
Q205* |
probably null |
Het |
| Sacs |
A |
C |
14: 61,440,906 (GRCm39) |
K984T |
probably benign |
Het |
| Samd11 |
G |
A |
4: 156,334,943 (GRCm39) |
R102C |
probably damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,969,160 (GRCm39) |
H352N |
unknown |
Het |
| Slc22a27 |
A |
T |
19: 7,903,244 (GRCm39) |
I162K |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,536,104 (GRCm39) |
V2027E |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,326,994 (GRCm39) |
I594M |
probably benign |
Het |
| Trim5 |
C |
G |
7: 103,926,022 (GRCm39) |
E180Q |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
T |
2: 174,297,526 (GRCm39) |
E45V |
probably null |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,722 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,000 (GRCm39) |
F183L |
probably benign |
Het |
|
| Other mutations in Fbxw5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02053:Fbxw5
|
APN |
2 |
25,393,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02162:Fbxw5
|
APN |
2 |
25,393,283 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02261:Fbxw5
|
APN |
2 |
25,393,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02298:Fbxw5
|
APN |
2 |
25,394,456 (GRCm39) |
nonsense |
probably null |
|
|
IGL02822:Fbxw5
|
APN |
2 |
25,393,022 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0416:Fbxw5
|
UTSW |
2 |
25,393,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Fbxw5
|
UTSW |
2 |
25,394,538 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0616:Fbxw5
|
UTSW |
2 |
25,392,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Fbxw5
|
UTSW |
2 |
25,394,630 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1660:Fbxw5
|
UTSW |
2 |
25,393,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1697:Fbxw5
|
UTSW |
2 |
25,392,473 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1737:Fbxw5
|
UTSW |
2 |
25,393,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2030:Fbxw5
|
UTSW |
2 |
25,394,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Fbxw5
|
UTSW |
2 |
25,394,773 (GRCm39) |
nonsense |
probably null |
|
|
R2406:Fbxw5
|
UTSW |
2 |
25,394,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Fbxw5
|
UTSW |
2 |
25,393,576 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4082:Fbxw5
|
UTSW |
2 |
25,394,643 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6170:Fbxw5
|
UTSW |
2 |
25,393,615 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6502:Fbxw5
|
UTSW |
2 |
25,392,448 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7826:Fbxw5
|
UTSW |
2 |
25,392,561 (GRCm39) |
nonsense |
probably null |
|
|
R9658:Fbxw5
|
UTSW |
2 |
25,393,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAATGCCTTCCAGGTTCAG -3'
(R):5'- CCAGAAGTGTGCAAACCTGG -3'
Sequencing Primer
(F):5'- TTCAGACCGGGACAGGGAC -3'
(R):5'- TGTGCAAACCTGGGTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation