Incidental Mutation 'IGL01764:Fbxw20'
| ID |
153625 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw20
|
| Ensembl Gene |
ENSMUSG00000061701 |
| Gene Name |
F-box and WD-40 domain protein 20 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01764
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109046500-109063822 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109052427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 302
(M302T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079548]
[ENSMUST00000197329]
|
| AlphaFold |
Q5U467 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079548
AA Change: M302T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078503
Gene: ENSMUSG00000061701
AA Change: M302T
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
2.37e-6 |
SMART |
|
SCOP:d1tbga_
|
116 |
249 |
5e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197329
AA Change: M232T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143126
Gene: ENSMUSG00000061701
AA Change: M232T
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
1.5e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198261
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
| BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
| Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
| Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
| Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
| Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
| Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
| Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
| Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
| Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fbxw20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Fbxw20
|
APN |
9 |
109,063,770 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
|
IGL02149:Fbxw20
|
APN |
9 |
109,062,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02307:Fbxw20
|
APN |
9 |
109,062,601 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02335:Fbxw20
|
APN |
9 |
109,052,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02338:Fbxw20
|
APN |
9 |
109,055,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4377001:Fbxw20
|
UTSW |
9 |
109,050,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4434001:Fbxw20
|
UTSW |
9 |
109,052,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Fbxw20
|
UTSW |
9 |
109,061,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Fbxw20
|
UTSW |
9 |
109,050,404 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1114:Fbxw20
|
UTSW |
9 |
109,052,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Fbxw20
|
UTSW |
9 |
109,050,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Fbxw20
|
UTSW |
9 |
109,050,777 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1967:Fbxw20
|
UTSW |
9 |
109,046,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2055:Fbxw20
|
UTSW |
9 |
109,050,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2224:Fbxw20
|
UTSW |
9 |
109,062,650 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4394:Fbxw20
|
UTSW |
9 |
109,061,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4617:Fbxw20
|
UTSW |
9 |
109,046,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5794:Fbxw20
|
UTSW |
9 |
109,062,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5794:Fbxw20
|
UTSW |
9 |
109,052,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6090:Fbxw20
|
UTSW |
9 |
109,052,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7161:Fbxw20
|
UTSW |
9 |
109,055,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Fbxw20
|
UTSW |
9 |
109,061,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Fbxw20
|
UTSW |
9 |
109,050,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8259:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8770:Fbxw20
|
UTSW |
9 |
109,046,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Fbxw20
|
UTSW |
9 |
109,062,530 (GRCm39) |
splice site |
probably benign |
|
|
R9090:Fbxw20
|
UTSW |
9 |
109,050,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9131:Fbxw20
|
UTSW |
9 |
109,052,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Fbxw20
|
UTSW |
9 |
109,050,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9464:Fbxw20
|
UTSW |
9 |
109,050,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fbxw20
|
UTSW |
9 |
109,054,955 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation