Incidental Mutation 'R2244:Fbxw24'
| ID |
240606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw24
|
| Ensembl Gene |
ENSMUSG00000062275 |
| Gene Name |
F-box and WD-40 domain protein 24 |
| Synonyms |
Gm5162 |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109430184-109455125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109434117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 398
(T398A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073962]
|
| AlphaFold |
E9PXM9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073962
AA Change: T398A
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073617
Gene: ENSMUSG00000062275
AA Change: T398A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
|
SCOP:d1gxra_
|
87 |
227 |
8e-7 |
SMART |
|
Blast:WD40
|
137 |
176 |
1e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
G |
7: 132,484,940 (GRCm39) |
T328A |
probably benign |
Het |
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,956,243 (GRCm39) |
E507V |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,733,576 (GRCm39) |
T486A |
probably damaging |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,264,045 (GRCm39) |
D343G |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Sgo2a |
T |
C |
1: 58,056,213 (GRCm39) |
I799T |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly damaging |
Het |
|
| Other mutations in Fbxw24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Fbxw24
|
APN |
9 |
109,434,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01373:Fbxw24
|
APN |
9 |
109,452,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01996:Fbxw24
|
APN |
9 |
109,434,440 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02179:Fbxw24
|
APN |
9 |
109,438,973 (GRCm39) |
nonsense |
probably null |
|
|
IGL02718:Fbxw24
|
APN |
9 |
109,453,858 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02936:Fbxw24
|
APN |
9 |
109,454,026 (GRCm39) |
splice site |
probably null |
|
|
IGL03010:Fbxw24
|
APN |
9 |
109,452,678 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03350:Fbxw24
|
APN |
9 |
109,436,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Fbxw24
|
APN |
9 |
109,430,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Fbxw24
|
UTSW |
9 |
109,434,482 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0718:Fbxw24
|
UTSW |
9 |
109,452,577 (GRCm39) |
splice site |
probably benign |
|
|
R1166:Fbxw24
|
UTSW |
9 |
109,436,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1550:Fbxw24
|
UTSW |
9 |
109,436,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1950:Fbxw24
|
UTSW |
9 |
109,434,481 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1986:Fbxw24
|
UTSW |
9 |
109,436,124 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3683:Fbxw24
|
UTSW |
9 |
109,437,110 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4324:Fbxw24
|
UTSW |
9 |
109,434,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4387:Fbxw24
|
UTSW |
9 |
109,439,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Fbxw24
|
UTSW |
9 |
109,437,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4410:Fbxw24
|
UTSW |
9 |
109,437,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Fbxw24
|
UTSW |
9 |
109,453,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5571:Fbxw24
|
UTSW |
9 |
109,436,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6042:Fbxw24
|
UTSW |
9 |
109,436,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6523:Fbxw24
|
UTSW |
9 |
109,434,048 (GRCm39) |
nonsense |
probably null |
|
|
R6799:Fbxw24
|
UTSW |
9 |
109,453,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Fbxw24
|
UTSW |
9 |
109,430,328 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7239:Fbxw24
|
UTSW |
9 |
109,434,598 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7405:Fbxw24
|
UTSW |
9 |
109,436,136 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7705:Fbxw24
|
UTSW |
9 |
109,437,516 (GRCm39) |
splice site |
probably null |
|
|
R8536:Fbxw24
|
UTSW |
9 |
109,452,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8873:Fbxw24
|
UTSW |
9 |
109,453,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Fbxw24
|
UTSW |
9 |
109,452,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Fbxw24
|
UTSW |
9 |
109,439,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGCTGAGCCATCTCTCC -3'
(R):5'- AGATCGTTTCTTCTCCAGTGG -3'
Sequencing Primer
(F):5'- TCTCCAGCCCCAGAAATATTTTAC -3'
(R):5'- TGAGCACTTTCAGAGTCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation