Incidental Mutation 'IGL00228:Fbxw20'
| ID |
2268 |
| 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 # |
IGL00228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109046500-109063822 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 109063770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079548]
[ENSMUST00000197329]
|
| AlphaFold |
Q5U467 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079548
AA Change: M1L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078503
Gene: ENSMUSG00000061701
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
2.37e-6 |
SMART |
|
SCOP:d1tbga_
|
116 |
249 |
5e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197329
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143126
Gene: ENSMUSG00000061701
AA Change: M1L
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
| Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
| Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
| Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
| Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
| Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
| Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
| Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
| Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
| Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
| Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
| Other mutations in Fbxw20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01764:Fbxw20
|
APN |
9 |
109,052,427 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
2011-12-09 |
Incidental Mutation