Incidental Mutation 'R2030:Fbxw5'
ID |
221088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw5
|
Ensembl Gene |
ENSMUSG00000015095 |
Gene Name |
F-box and WD-40 domain protein 5 |
Synonyms |
Fbw5 |
MMRRC Submission |
040037-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.416)
|
Stock # |
R2030 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25390762-25395482 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25394810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 235
(V235L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117676
(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: V519L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015239 Gene: ENSMUSG00000015095 AA Change: V519L
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 damaging
Transcript: ENSMUST00000124375
AA Change: V235L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117676 Gene: ENSMUSG00000015095 AA Change: V235L
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: ENSMUST00000135511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135456
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153139
|
Meta Mutation Damage Score |
0.6436 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCTTGGATGTCAGCAGG -3'
(R):5'- AGGTTCCAATGGCTCAAATCAC -3'
Sequencing Primer
(F):5'- CAGCAGGGATTTTGTGGCCAG -3'
(R):5'- GGTTCCAATGGCTCAAATCACTGAAG -3'
|
Posted On |
2014-08-25 |