Incidental Mutation 'R1288:Fbxw28'
| ID |
150675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw28
|
| Ensembl Gene |
ENSMUSG00000054087 |
| Gene Name |
F-box and WD-40 domain protein 28 |
| Synonyms |
Gm9337 |
| MMRRC Submission |
039354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109151954-109168727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109166361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 165
(I165T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112039]
[ENSMUST00000112040]
[ENSMUST00000196351]
[ENSMUST00000200156]
|
| AlphaFold |
E9Q8A4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112039
AA Change: I129T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: I129T
| 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: I129T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: I129T
| 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: I165T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: I165T
| 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: I129T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: I129T
| 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: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,071 (GRCm39) |
D247V |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,196,620 (GRCm39) |
S184C |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Atxn3 |
C |
T |
12: 101,908,437 (GRCm39) |
|
probably null |
Het |
| BC005537 |
A |
T |
13: 24,988,883 (GRCm39) |
E54V |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,403,617 (GRCm39) |
E881V |
probably damaging |
Het |
| Cep126 |
A |
T |
9: 8,112,182 (GRCm39) |
N130K |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,188,138 (GRCm39) |
T21A |
possibly damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,799 (GRCm39) |
N305K |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,979,308 (GRCm39) |
T561A |
probably benign |
Het |
| Mup21 |
G |
T |
4: 62,068,934 (GRCm39) |
A19E |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,244,544 (GRCm39) |
I1027T |
probably benign |
Het |
| Nkg7 |
A |
G |
7: 43,087,086 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,858,619 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or2g1 |
T |
A |
17: 38,106,584 (GRCm39) |
L83Q |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,114 (GRCm39) |
T151A |
probably benign |
Het |
| Or52a5 |
A |
T |
7: 103,427,249 (GRCm39) |
L101Q |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,501,916 (GRCm39) |
A265V |
probably benign |
Het |
| Or6c69c |
A |
G |
10: 129,911,154 (GRCm39) |
N292D |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,657,223 (GRCm39) |
S267I |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,637,195 (GRCm39) |
D4V |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp40 |
T |
A |
17: 23,401,136 (GRCm39) |
I36L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGAACACTGACAAGCCCTGC -3'
(R):5'- AGTGTGCATGGCTGCCTCTTTC -3'
Sequencing Primer
(F):5'- gcaccctctttgacctctac -3'
(R):5'- ATGCCTACTTCGTGGCAGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation