Incidental Mutation 'IGL02477:Fbxw17'
| ID |
294995 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw17
|
| Ensembl Gene |
ENSMUSG00000037816 |
| Gene Name |
F-box and WD-40 domain protein 17 |
| Synonyms |
1110064L07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
50571900-50587816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50577853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 119
(V119M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046974]
[ENSMUST00000176479]
[ENSMUST00000176913]
|
| AlphaFold |
Q8CFE8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046974
AA Change: V119M
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: V119M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
3 |
47 |
1.4e-6 |
PFAM |
|
Pfam:F-box-like
|
4 |
48 |
6.7e-12 |
PFAM |
|
WD40
|
85 |
133 |
9.94e-1 |
SMART |
|
Blast:WD40
|
136 |
175 |
6e-12 |
BLAST |
|
WD40
|
369 |
408 |
1.07e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176424
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185962
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,127,943 (GRCm39) |
I61F |
probably benign |
Het |
| Abr |
T |
C |
11: 76,352,186 (GRCm39) |
K280E |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,197,994 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,961,406 (GRCm39) |
V582I |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,859,858 (GRCm39) |
N613D |
unknown |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,619 (GRCm39) |
T389A |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,408 (GRCm39) |
N164S |
probably benign |
Het |
| Eef1akmt2 |
A |
T |
7: 132,452,318 (GRCm39) |
|
probably null |
Het |
| Elp3 |
T |
C |
14: 65,800,760 (GRCm39) |
T283A |
probably benign |
Het |
| Fads3 |
C |
A |
19: 10,033,806 (GRCm39) |
P397Q |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,203,612 (GRCm39) |
V198A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,854 (GRCm39) |
I208M |
probably benign |
Het |
| Gtf2ird1 |
G |
A |
5: 134,408,832 (GRCm39) |
T140M |
probably damaging |
Het |
| Hspa14 |
C |
T |
2: 3,497,661 (GRCm39) |
S277N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,271,823 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,303 (GRCm39) |
R82S |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,419,316 (GRCm39) |
Y693C |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,047 (GRCm39) |
M445V |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,216,404 (GRCm39) |
I793S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,915,770 (GRCm39) |
M789K |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,506,679 (GRCm39) |
L484Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,232,623 (GRCm39) |
M1860K |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,353,131 (GRCm39) |
|
probably null |
Het |
| Nsun7 |
T |
A |
5: 66,433,992 (GRCm39) |
I214K |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,126 (GRCm39) |
I269M |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,421 (GRCm39) |
S8L |
probably benign |
Het |
| Osm |
T |
A |
11: 4,189,604 (GRCm39) |
N129K |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,707,997 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,660,714 (GRCm39) |
F302L |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,431,751 (GRCm39) |
V27A |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,274,378 (GRCm39) |
D1350G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,792,083 (GRCm39) |
V1190D |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,823 (GRCm39) |
R668L |
probably damaging |
Het |
| Sprr2f |
T |
A |
3: 92,273,204 (GRCm39) |
M1K |
probably null |
Het |
| Sult6b2 |
G |
A |
6: 142,747,447 (GRCm39) |
P101S |
probably damaging |
Het |
| Trem3 |
G |
A |
17: 48,556,864 (GRCm39) |
V112I |
probably benign |
Het |
| Ttll9 |
T |
A |
2: 152,842,117 (GRCm39) |
F324I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,557,104 (GRCm39) |
D29967V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,163,516 (GRCm39) |
K2639E |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,982 (GRCm39) |
|
probably null |
Het |
| Zbtb14 |
T |
A |
17: 69,694,690 (GRCm39) |
D129E |
probably benign |
Het |
| Zmym6 |
C |
T |
4: 126,972,295 (GRCm39) |
Q16* |
probably null |
Het |
|
| Other mutations in Fbxw17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Fbxw17
|
APN |
13 |
50,577,336 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0364:Fbxw17
|
UTSW |
13 |
50,586,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0577:Fbxw17
|
UTSW |
13 |
50,585,619 (GRCm39) |
missense |
probably benign |
|
|
R1709:Fbxw17
|
UTSW |
13 |
50,585,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1791:Fbxw17
|
UTSW |
13 |
50,579,810 (GRCm39) |
unclassified |
probably benign |
|
|
R4811:Fbxw17
|
UTSW |
13 |
50,579,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5013:Fbxw17
|
UTSW |
13 |
50,586,506 (GRCm39) |
missense |
probably benign |
|
|
R5153:Fbxw17
|
UTSW |
13 |
50,573,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Fbxw17
|
UTSW |
13 |
50,586,390 (GRCm39) |
intron |
probably benign |
|
|
R5475:Fbxw17
|
UTSW |
13 |
50,579,684 (GRCm39) |
missense |
probably benign |
|
|
R6146:Fbxw17
|
UTSW |
13 |
50,586,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6294:Fbxw17
|
UTSW |
13 |
50,577,839 (GRCm39) |
missense |
probably benign |
|
|
R6644:Fbxw17
|
UTSW |
13 |
50,577,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Fbxw17
|
UTSW |
13 |
50,587,300 (GRCm39) |
splice site |
probably null |
|
|
R7007:Fbxw17
|
UTSW |
13 |
50,577,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Fbxw17
|
UTSW |
13 |
50,586,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Fbxw17
|
UTSW |
13 |
50,587,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Fbxw17
|
UTSW |
13 |
50,579,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Fbxw17
|
UTSW |
13 |
50,579,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Fbxw17
|
UTSW |
13 |
50,587,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8820:Fbxw17
|
UTSW |
13 |
50,587,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8872:Fbxw17
|
UTSW |
13 |
50,586,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Fbxw17
|
UTSW |
13 |
50,577,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9308:Fbxw17
|
UTSW |
13 |
50,572,004 (GRCm39) |
missense |
probably benign |
|
|
R9558:Fbxw17
|
UTSW |
13 |
50,577,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Fbxw17
|
UTSW |
13 |
50,579,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Fbxw17
|
UTSW |
13 |
50,579,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation