Incidental Mutation 'IGL01883:Fbxw28'
ID |
179051 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw28
|
Ensembl Gene |
ENSMUSG00000054087 |
Gene Name |
F-box and WD-40 domain protein 28 |
Synonyms |
Gm9337 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL01883
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109151954-109168727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109157393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 285
(V285E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112039]
[ENSMUST00000112040]
[ENSMUST00000196351]
[ENSMUST00000200156]
|
AlphaFold |
E9Q8A4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112039
AA Change: V285E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000107670 Gene: ENSMUSG00000054087 AA Change: V285E
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
127 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
3e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112040
AA Change: V285E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107671 Gene: ENSMUSG00000054087 AA Change: V285E
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
127 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
4e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196351
|
SMART Domains |
Protein: ENSMUSP00000143357 Gene: ENSMUSG00000054087
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
2e-8 |
SMART |
SCOP:d1aym1_
|
54 |
102 |
2e-3 |
SMART |
Blast:WD40
|
172 |
211 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200156
AA Change: V232E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143361 Gene: ENSMUSG00000054087 AA Change: V232E
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
2e-8 |
SMART |
SCOP:d1tbga_
|
127 |
208 |
2e-3 |
SMART |
Blast:WD40
|
136 |
175 |
4e-6 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
C |
A |
1: 58,177,442 (GRCm39) |
P219Q |
probably damaging |
Het |
Arl2 |
A |
G |
19: 6,187,521 (GRCm39) |
L109P |
probably damaging |
Het |
Bhlha9 |
T |
C |
11: 76,563,924 (GRCm39) |
S184P |
probably benign |
Het |
C2cd3 |
G |
A |
7: 100,023,693 (GRCm39) |
R93H |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,012,663 (GRCm39) |
F295L |
probably benign |
Het |
Cpsf7 |
A |
T |
19: 10,503,387 (GRCm39) |
D6V |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm18025 |
T |
A |
12: 34,340,692 (GRCm39) |
I134F |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Kif11 |
A |
C |
19: 37,372,791 (GRCm39) |
T60P |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,131,204 (GRCm39) |
D521G |
probably damaging |
Het |
Polg |
A |
G |
7: 79,108,066 (GRCm39) |
L583P |
probably damaging |
Het |
Ppp6r1 |
A |
T |
7: 4,642,986 (GRCm39) |
|
probably null |
Het |
Rmc1 |
G |
A |
18: 12,311,296 (GRCm39) |
V125I |
probably benign |
Het |
Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,237,145 (GRCm39) |
N353D |
probably damaging |
Het |
|
Other mutations in Fbxw28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02080:Fbxw28
|
APN |
9 |
109,168,641 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02313:Fbxw28
|
APN |
9 |
109,166,420 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0029:Fbxw28
|
UTSW |
9 |
109,157,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Fbxw28
|
UTSW |
9 |
109,167,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Fbxw28
|
UTSW |
9 |
109,157,279 (GRCm39) |
missense |
probably benign |
0.22 |
R1288:Fbxw28
|
UTSW |
9 |
109,166,361 (GRCm39) |
missense |
probably damaging |
0.97 |
R1898:Fbxw28
|
UTSW |
9 |
109,152,452 (GRCm39) |
missense |
probably benign |
0.32 |
R2065:Fbxw28
|
UTSW |
9 |
109,157,292 (GRCm39) |
missense |
probably benign |
0.03 |
R2117:Fbxw28
|
UTSW |
9 |
109,159,985 (GRCm39) |
missense |
probably benign |
0.04 |
R3410:Fbxw28
|
UTSW |
9 |
109,167,472 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3812:Fbxw28
|
UTSW |
9 |
109,167,598 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4400:Fbxw28
|
UTSW |
9 |
109,157,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Fbxw28
|
UTSW |
9 |
109,168,602 (GRCm39) |
missense |
probably null |
1.00 |
R4899:Fbxw28
|
UTSW |
9 |
109,159,921 (GRCm39) |
missense |
probably damaging |
0.99 |
R5129:Fbxw28
|
UTSW |
9 |
109,155,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5613:Fbxw28
|
UTSW |
9 |
109,167,601 (GRCm39) |
missense |
probably benign |
0.02 |
R5777:Fbxw28
|
UTSW |
9 |
109,167,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R6029:Fbxw28
|
UTSW |
9 |
109,158,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Fbxw28
|
UTSW |
9 |
109,155,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R6367:Fbxw28
|
UTSW |
9 |
109,168,599 (GRCm39) |
critical splice donor site |
probably null |
|
R6820:Fbxw28
|
UTSW |
9 |
109,167,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R6968:Fbxw28
|
UTSW |
9 |
109,159,856 (GRCm39) |
missense |
probably benign |
0.00 |
R7763:Fbxw28
|
UTSW |
9 |
109,155,701 (GRCm39) |
missense |
probably damaging |
0.96 |
R8104:Fbxw28
|
UTSW |
9 |
109,155,357 (GRCm39) |
splice site |
probably null |
|
R8407:Fbxw28
|
UTSW |
9 |
109,155,269 (GRCm39) |
missense |
probably benign |
|
R8414:Fbxw28
|
UTSW |
9 |
109,155,604 (GRCm39) |
nonsense |
probably null |
|
R8721:Fbxw28
|
UTSW |
9 |
109,157,382 (GRCm39) |
missense |
probably benign |
0.15 |
R8766:Fbxw28
|
UTSW |
9 |
109,155,749 (GRCm39) |
missense |
probably benign |
0.15 |
R8955:Fbxw28
|
UTSW |
9 |
109,167,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9609:Fbxw28
|
UTSW |
9 |
109,167,515 (GRCm39) |
missense |
probably benign |
0.06 |
RF024:Fbxw28
|
UTSW |
9 |
109,167,594 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |