Incidental Mutation 'R8721:Fbxw28'
| ID |
662120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw28
|
| Ensembl Gene |
ENSMUSG00000054087 |
| Gene Name |
F-box and WD-40 domain protein 28 |
| Synonyms |
Gm9337 |
| MMRRC Submission |
068717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109151954-109168727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109157382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 289
(V289I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112039]
[ENSMUST00000112040]
[ENSMUST00000196351]
[ENSMUST00000200156]
|
| AlphaFold |
E9Q8A4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112039
AA Change: V289I
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: V289I
| 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: V289I
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: V289I
| 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: V236I
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: V236I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,035,115 (GRCm39) |
D684G |
possibly damaging |
Het |
| Abhd16a |
T |
C |
17: 35,310,571 (GRCm39) |
V94A |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,806 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
G |
T |
16: 85,594,775 (GRCm39) |
T621K |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,023,565 (GRCm39) |
T200S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,427,058 (GRCm39) |
V598A |
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,933,928 (GRCm39) |
F323S |
possibly damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,879,335 (GRCm39) |
S1785P |
unknown |
Het |
| Ces2b |
T |
A |
8: 105,560,527 (GRCm39) |
V114D |
possibly damaging |
Het |
| Cfap73 |
T |
C |
5: 120,768,089 (GRCm39) |
E223G |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,314,015 (GRCm39) |
N78S |
possibly damaging |
Het |
| Cyp7a1 |
G |
T |
4: 6,268,273 (GRCm39) |
A484E |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,986,124 (GRCm39) |
T1170K |
probably damaging |
Het |
| Fam83d |
G |
T |
2: 158,627,522 (GRCm39) |
V404L |
probably benign |
Het |
| Frs2 |
T |
G |
10: 116,909,935 (GRCm39) |
I476L |
probably benign |
Het |
| Gbp2b |
A |
T |
3: 142,312,705 (GRCm39) |
I363F |
possibly damaging |
Het |
| Gm8267 |
A |
T |
14: 44,959,507 (GRCm39) |
F186I |
possibly damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,605 (GRCm39) |
L3P |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,315,189 (GRCm39) |
L3671F |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,982,922 (GRCm39) |
D260G |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,111,619 (GRCm39) |
K440E |
probably damaging |
Het |
| Morn4 |
A |
T |
19: 42,066,439 (GRCm39) |
N49K |
possibly damaging |
Het |
| Mtmr6 |
T |
G |
14: 60,527,128 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
T |
16: 34,817,176 (GRCm39) |
D1848V |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,140,064 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,440,186 (GRCm39) |
K87E |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,055,386 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,969,846 (GRCm39) |
Q405L |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,703,798 (GRCm39) |
S30P |
|
Het |
| Suclg1 |
G |
T |
6: 73,246,362 (GRCm39) |
L218F |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,002,889 (GRCm39) |
L846P |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,599 (GRCm39) |
N199S |
probably benign |
Het |
| Traj35 |
C |
T |
14: 54,421,272 (GRCm39) |
T14I |
|
Het |
| Tril |
A |
G |
6: 53,797,183 (GRCm39) |
V13A |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,278 (GRCm39) |
S625T |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,784 (GRCm39) |
F464L |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,075,044 (GRCm39) |
|
probably null |
Het |
| Zfp346 |
A |
G |
13: 55,261,491 (GRCm39) |
S94G |
possibly damaging |
Het |
| Zfp429 |
T |
A |
13: 67,538,331 (GRCm39) |
Y371F |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,522 (GRCm39) |
E186V |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTATGCCATCATGTCTGG -3'
(R):5'- AGCAATGACTGTTCCTCCCTG -3'
Sequencing Primer
(F):5'- GCCATCATGTCTGGATTGAGAAC -3'
(R):5'- CCTGTCCTGGGTGAAGAACAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation