Incidental Mutation 'R1018:Fbxw20'
| ID |
96618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw20
|
| Ensembl Gene |
ENSMUSG00000061701 |
| Gene Name |
F-box and WD-40 domain protein 20 |
| Synonyms |
|
| MMRRC Submission |
039122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109217432-109234754 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109221336 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 407
(Y407F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079548]
[ENSMUST00000197329]
|
| AlphaFold |
Q5U467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079548
AA Change: Y407F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078503
Gene: ENSMUSG00000061701
AA Change: Y407F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143126
Gene: ENSMUSG00000061701
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
1.5e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198261
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 80,001,491 |
C403F |
probably damaging |
Het |
| Adam20 |
C |
T |
8: 40,796,109 |
Q419* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,646,876 |
|
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,818,611 |
I170K |
probably damaging |
Het |
| Atp5f1 |
A |
T |
3: 105,954,172 |
V78E |
possibly damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,726,058 |
Y4H |
probably damaging |
Het |
| Cnn2 |
T |
C |
10: 79,993,563 |
C176R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,194,093 |
D3392G |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,967,811 |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,763,013 |
V870E |
possibly damaging |
Het |
| Epx |
T |
C |
11: 87,869,303 |
N495S |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,080,260 |
Q552L |
probably benign |
Het |
| Hspa13 |
C |
A |
16: 75,761,276 |
V134L |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,674,538 |
N268S |
probably damaging |
Het |
| Kif14 |
G |
A |
1: 136,495,841 |
|
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,622,602 |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 98,107,005 |
D29V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 33,843,241 |
K34R |
probably damaging |
Het |
| Olfr1234 |
C |
A |
2: 89,363,179 |
L83F |
possibly damaging |
Het |
| P3h1 |
C |
A |
4: 119,237,907 |
T287K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,201,259 |
H3023Q |
possibly damaging |
Het |
| Plxna1 |
A |
G |
6: 89,342,960 |
L535P |
probably damaging |
Het |
| Ppp1r32 |
A |
T |
19: 10,479,460 |
|
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,029,714 |
S400R |
probably benign |
Het |
| Psap |
T |
G |
10: 60,300,811 |
L523R |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,804,310 |
T189I |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,029,869 |
S39T |
possibly damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,878,000 |
H98L |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,712,390 |
C601F |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,554,576 |
K756R |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 125,068,907 |
V86A |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 23,822,540 |
S2575P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,117,374 |
|
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,783,192 |
|
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,794,819 |
F1727V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,442,183 |
H2147Q |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,871,171 |
H620L |
probably damaging |
Het |
| Uba5 |
T |
C |
9: 104,049,903 |
T292A |
probably benign |
Het |
| Unc5a |
T |
A |
13: 54,990,952 |
V48E |
possibly damaging |
Het |
| Upf1 |
G |
T |
8: 70,338,906 |
H514Q |
possibly damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,414 |
|
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,556,840 |
D191V |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,691,906 |
Y242H |
possibly damaging |
Het |
| Zfp341 |
A |
T |
2: 154,646,052 |
N812Y |
probably damaging |
Het |
| Zfp358 |
C |
A |
8: 3,496,843 |
S475* |
probably null |
Het |
| Zfp957 |
C |
A |
14: 79,212,742 |
C539F |
probably damaging |
Het |
|
| Other mutations in Fbxw20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Fbxw20
|
APN |
9 |
109,234,702 (GRCm38) |
start codon destroyed |
probably damaging |
0.97 |
|
IGL01764:Fbxw20
|
APN |
9 |
109,223,359 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02149:Fbxw20
|
APN |
9 |
109,233,818 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02307:Fbxw20
|
APN |
9 |
109,233,533 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02335:Fbxw20
|
APN |
9 |
109,223,309 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02338:Fbxw20
|
APN |
9 |
109,225,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4377001:Fbxw20
|
UTSW |
9 |
109,221,727 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4434001:Fbxw20
|
UTSW |
9 |
109,223,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0652:Fbxw20
|
UTSW |
9 |
109,232,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1114:Fbxw20
|
UTSW |
9 |
109,223,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1596:Fbxw20
|
UTSW |
9 |
109,221,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1692:Fbxw20
|
UTSW |
9 |
109,221,709 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1967:Fbxw20
|
UTSW |
9 |
109,217,510 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2055:Fbxw20
|
UTSW |
9 |
109,221,374 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2224:Fbxw20
|
UTSW |
9 |
109,233,582 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4394:Fbxw20
|
UTSW |
9 |
109,232,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4617:Fbxw20
|
UTSW |
9 |
109,217,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4858:Fbxw20
|
UTSW |
9 |
109,234,695 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5794:Fbxw20
|
UTSW |
9 |
109,233,600 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5794:Fbxw20
|
UTSW |
9 |
109,223,290 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6090:Fbxw20
|
UTSW |
9 |
109,223,363 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7161:Fbxw20
|
UTSW |
9 |
109,225,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7328:Fbxw20
|
UTSW |
9 |
109,232,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8004:Fbxw20
|
UTSW |
9 |
109,221,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8258:Fbxw20
|
UTSW |
9 |
109,234,695 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8259:Fbxw20
|
UTSW |
9 |
109,234,695 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8770:Fbxw20
|
UTSW |
9 |
109,217,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9006:Fbxw20
|
UTSW |
9 |
109,233,462 (GRCm38) |
splice site |
probably benign |
|
|
R9090:Fbxw20
|
UTSW |
9 |
109,221,355 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9131:Fbxw20
|
UTSW |
9 |
109,223,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Fbxw20
|
UTSW |
9 |
109,221,355 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9464:Fbxw20
|
UTSW |
9 |
109,221,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Fbxw20
|
UTSW |
9 |
109,225,887 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTGAGGGTGTCAgtcagat -3'
(R):5'- TCCCCTCCAGTGGGGCttttaa -3'
Sequencing Primer
(F):5'- ggatgctggggatggaac -3'
(R):5'- gtgttagtctctctctttccacc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation