Incidental Mutation 'R3815:Fbxw5'
| ID |
274222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw5
|
| Ensembl Gene |
ENSMUSG00000015095 |
| Gene Name |
F-box and WD-40 domain protein 5 |
| Synonyms |
Fbw5 |
| MMRRC Submission |
040770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R3815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25390762-25395482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25393576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 268
(D268V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000015239
AA Change: D268V
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: D268V
| 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
AA Change: D59V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: D59V
| 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: ENSMUST00000149062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154984
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
| Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
| Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
| Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
| AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
| Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
| Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
| Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
| Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
| Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
| Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
| Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
| Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
| Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGCCTTCCAGGTTCAG -3'
(R):5'- AATCCGATAGCTGTCCGTGTC -3'
Sequencing Primer
(F):5'- TTCAGACCGGGACAGGGAC -3'
(R):5'- ATAGCTGTCCGTGTCCATCCAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation