Incidental Mutation 'R4082:Fbxw5'
| ID |
316915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw5
|
| Ensembl Gene |
ENSMUSG00000015095 |
| Gene Name |
F-box and WD-40 domain protein 5 |
| Synonyms |
Fbw5 |
| MMRRC Submission |
041624-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R4082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25390762-25395482 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 25394643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015227]
[ENSMUST00000015239]
[ENSMUST00000015239]
[ENSMUST00000015239]
[ENSMUST00000015239]
[ENSMUST00000040042]
[ENSMUST00000124375]
[ENSMUST00000124375]
[ENSMUST00000124375]
[ENSMUST00000124375]
[ENSMUST00000124375]
[ENSMUST00000124375]
[ENSMUST00000124375]
[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 null
Transcript: ENSMUST00000015239
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
| 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 null
Transcript: ENSMUST00000015239
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
| 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 null
Transcript: ENSMUST00000015239
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
| 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 null
Transcript: ENSMUST00000015239
|
| SMART Domains |
Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
| 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 null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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: ENSMUST00000129104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133255
|
| Meta Mutation Damage Score |
0.9593 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,014,117 (GRCm39) |
Y173S |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
| Cars1 |
C |
T |
7: 143,123,234 (GRCm39) |
E461K |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
| Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
| Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
| Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,797 (GRCm39) |
|
probably null |
Het |
| Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
| Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
| Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
| Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
| Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
| Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
| Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
| Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,080 (GRCm39) |
V715I |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
|
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'- GCTATCCCTTGCTCAGGTAC -3'
(R):5'- AAAGCCACGGAGTTGACCAC -3'
Sequencing Primer
(F):5'- CTCAGGTACCTGTATGTGAATAGCC -3'
(R):5'- GGAGTTGACCACATCCTCATG -3'
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| Posted On |
2015-05-15 |
Incidental Mutation