Incidental Mutation 'IGL02080:Fbxw28'
| ID |
186079 |
| 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 # |
IGL02080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109151954-109168727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109168641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 17
(L17P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112039]
[ENSMUST00000112040]
[ENSMUST00000196351]
[ENSMUST00000200156]
|
| AlphaFold |
E9Q8A4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112039
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: L17P
| 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 damaging
Transcript: ENSMUST00000112040
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: L17P
| 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 damaging
Transcript: ENSMUST00000196351
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: L17P
| 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 damaging
Transcript: ENSMUST00000200156
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: L17P
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
| Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
| Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
| Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Fbxw28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01883:Fbxw28
|
APN |
9 |
109,157,393 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
Incidental Mutation