Incidental Mutation 'R3812:Fbxw28'
| ID |
274106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw28
|
| Ensembl Gene |
ENSMUSG00000054087 |
| Gene Name |
F-box and WD-40 domain protein 28 |
| Synonyms |
Gm9337 |
| MMRRC Submission |
040768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3812 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109151954-109168727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109167598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 53
(C53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112039]
[ENSMUST00000112040]
[ENSMUST00000196351]
[ENSMUST00000200156]
|
| AlphaFold |
E9Q8A4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112039
AA Change: C53F
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: C53F
| 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 |
possibly damaging
Transcript: ENSMUST00000112040
AA Change: C53F
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: C53F
| 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 |
possibly damaging
Transcript: ENSMUST00000196351
AA Change: C53F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: C53F
| 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 |
possibly damaging
Transcript: ENSMUST00000200156
AA Change: C53F
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: C53F
| 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 |
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,407,469 (GRCm39) |
M1082V |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,706 (GRCm39) |
S137P |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,151 (GRCm39) |
I45V |
probably benign |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Lcmt2 |
G |
A |
2: 120,969,187 (GRCm39) |
A632V |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,543,284 (GRCm39) |
N180S |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,149,118 (GRCm39) |
W242R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,735,332 (GRCm39) |
Y151H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Polm |
A |
G |
11: 5,779,512 (GRCm39) |
F429L |
possibly damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,216,067 (GRCm39) |
T105A |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,000 (GRCm39) |
C449S |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,517 (GRCm39) |
F2820Y |
possibly damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,717 (GRCm39) |
S40P |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,810,326 (GRCm39) |
L906Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGTGGGTGTCTCTTCTAG -3'
(R):5'- CAAGCAGTGATGTCCTGTGG -3'
Sequencing Primer
(F):5'- GGTGTCTCTTCTAGAGTACCCAAG -3'
(R):5'- CAGTGATGTCCTGTGGAGGTAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation