Incidental Mutation 'IGL01126:Fbxw17'
| ID |
52593 |
| 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 # |
IGL01126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
50571900-50587816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50577336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 76
(E76G)
|
| 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: E76G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: E76G
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Aldh9a1 |
C |
T |
1: 167,192,143 (GRCm39) |
T425I |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Dnah5 |
T |
G |
15: 28,302,545 (GRCm39) |
F1601V |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,861,789 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,116,588 (GRCm39) |
I83V |
probably benign |
Het |
| Map3k19 |
T |
A |
1: 127,752,068 (GRCm39) |
K428* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,672,730 (GRCm39) |
M365T |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,700,797 (GRCm39) |
S95G |
probably benign |
Het |
| Pla1a |
T |
C |
16: 38,228,001 (GRCm39) |
D292G |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,487,185 (GRCm39) |
V496D |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,616,379 (GRCm39) |
T271A |
possibly damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,651,648 (GRCm39) |
N520D |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,524 (GRCm39) |
L687P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,537,590 (GRCm39) |
H34779Q |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,528,158 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,129,866 (GRCm39) |
M662K |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,709 (GRCm39) |
A169E |
possibly damaging |
Het |
|
| Other mutations in Fbxw17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02477:Fbxw17
|
APN |
13 |
50,577,853 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
2013-06-21 |
Incidental Mutation