Incidental Mutation 'IGL02822:Fbxw5'
ID |
361036 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw5
|
Ensembl Gene |
ENSMUSG00000015095 |
Gene Name |
F-box and WD-40 domain protein 5 |
Synonyms |
Fbw5 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.416)
|
Stock # |
IGL02822
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25390762-25395482 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25393022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 164
(N164S)
|
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 benign
Transcript: ENSMUST00000015239
AA Change: N164S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000015239 Gene: ENSMUSG00000015095 AA Change: N164S
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 |
probably benign
Transcript: ENSMUST00000124375
|
SMART Domains |
Protein: ENSMUSP00000117676 Gene: ENSMUSG00000015095
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: ENSMUST00000135456
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150580
|
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, 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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
T |
C |
16: 88,971,683 (GRCm39) |
C2R |
unknown |
Het |
Aldh1a7 |
A |
G |
19: 20,679,630 (GRCm39) |
V382A |
possibly damaging |
Het |
Asap2 |
T |
C |
12: 21,315,911 (GRCm39) |
V943A |
probably damaging |
Het |
Bod1l |
C |
T |
5: 41,951,688 (GRCm39) |
V2908M |
possibly damaging |
Het |
Casd1 |
C |
T |
6: 4,630,017 (GRCm39) |
T471I |
probably damaging |
Het |
Cd200l1 |
T |
C |
16: 45,262,968 (GRCm39) |
Y57C |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,638,600 (GRCm39) |
Y405H |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,774,520 (GRCm39) |
|
probably null |
Het |
Evi5l |
T |
C |
8: 4,237,248 (GRCm39) |
I117T |
probably damaging |
Het |
Fga |
A |
G |
3: 82,938,789 (GRCm39) |
E388G |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,818 (GRCm39) |
T55A |
probably benign |
Het |
Gdpd4 |
T |
C |
7: 97,621,131 (GRCm39) |
V148A |
possibly damaging |
Het |
Gsap |
T |
A |
5: 21,422,442 (GRCm39) |
V137D |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,601,379 (GRCm39) |
H117R |
possibly damaging |
Het |
Htr4 |
T |
A |
18: 62,561,255 (GRCm39) |
|
probably benign |
Het |
Ifitm1 |
T |
C |
7: 140,548,191 (GRCm39) |
V8A |
possibly damaging |
Het |
Kdelr1 |
A |
G |
7: 45,523,288 (GRCm39) |
|
probably benign |
Het |
Klra6 |
G |
T |
6: 129,993,673 (GRCm39) |
Y199* |
probably null |
Het |
Matcap1 |
T |
C |
8: 106,011,330 (GRCm39) |
Y268C |
probably damaging |
Het |
Mmp21 |
C |
T |
7: 133,277,828 (GRCm39) |
D333N |
possibly damaging |
Het |
Mocs1 |
T |
C |
17: 49,746,597 (GRCm39) |
F189S |
probably damaging |
Het |
Myo18b |
C |
T |
5: 112,923,211 (GRCm39) |
A1849T |
probably damaging |
Het |
Naca |
C |
A |
10: 127,875,214 (GRCm39) |
|
probably benign |
Het |
Nbea |
A |
T |
3: 55,926,868 (GRCm39) |
H778Q |
possibly damaging |
Het |
Nlrp4c |
C |
T |
7: 6,068,726 (GRCm39) |
P209L |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,683,019 (GRCm39) |
D276G |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,534 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or4a81 |
A |
G |
2: 89,619,444 (GRCm39) |
L84P |
possibly damaging |
Het |
Osbpl9 |
A |
G |
4: 108,930,118 (GRCm39) |
S258P |
probably damaging |
Het |
Pclaf |
A |
G |
9: 65,808,875 (GRCm39) |
E108G |
possibly damaging |
Het |
Pira13 |
T |
A |
7: 3,819,917 (GRCm39) |
T549S |
possibly damaging |
Het |
Pla2r1 |
C |
A |
2: 60,285,517 (GRCm39) |
C699F |
probably damaging |
Het |
Pnkp |
A |
G |
7: 44,511,848 (GRCm39) |
Y120C |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,798,204 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,587,606 (GRCm39) |
S720P |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,400,633 (GRCm39) |
H301R |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,905,015 (GRCm39) |
W1316L |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,901,688 (GRCm39) |
|
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
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 |
|
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 |
|
R4249:Fbxw5
|
UTSW |
2 |
25,393,472 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2015-12-18 |