Incidental Mutation 'R2294:Fbxw18'
| ID |
245104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw18
|
| Ensembl Gene |
ENSMUSG00000074059 |
| Gene Name |
F-box and WD-40 domain protein 18 |
| Synonyms |
|
| MMRRC Submission |
040293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109505802-109531768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109505865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 469
(S469P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098359]
|
| AlphaFold |
Q3TSA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098359
AA Change: S469P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: S469P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
4.13e-6 |
SMART |
|
Blast:WD40
|
140 |
179 |
2e-7 |
BLAST |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,760,172 (GRCm39) |
S135T |
probably benign |
Het |
| Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
| G3bp2 |
G |
A |
5: 92,205,887 (GRCm39) |
R290C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
| Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
| Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,854 (GRCm39) |
M125K |
possibly damaging |
Het |
| Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
| Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
| Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,757,436 (GRCm39) |
N252K |
probably benign |
Het |
| Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
| Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
| Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
probably damaging |
Het |
|
| Other mutations in Fbxw18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Fbxw18
|
APN |
9 |
109,522,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00820:Fbxw18
|
APN |
9 |
109,522,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01447:Fbxw18
|
APN |
9 |
109,530,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Fbxw18
|
APN |
9 |
109,517,889 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01956:Fbxw18
|
APN |
9 |
109,522,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02089:Fbxw18
|
APN |
9 |
109,530,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4810001:Fbxw18
|
UTSW |
9 |
109,505,958 (GRCm39) |
nonsense |
probably null |
|
|
R0004:Fbxw18
|
UTSW |
9 |
109,530,381 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0124:Fbxw18
|
UTSW |
9 |
109,520,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0375:Fbxw18
|
UTSW |
9 |
109,517,907 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1652:Fbxw18
|
UTSW |
9 |
109,519,695 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2153:Fbxw18
|
UTSW |
9 |
109,522,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Fbxw18
|
UTSW |
9 |
109,517,981 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4706:Fbxw18
|
UTSW |
9 |
109,519,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4982:Fbxw18
|
UTSW |
9 |
109,531,719 (GRCm39) |
start gained |
probably benign |
|
|
R4990:Fbxw18
|
UTSW |
9 |
109,517,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5314:Fbxw18
|
UTSW |
9 |
109,522,246 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5520:Fbxw18
|
UTSW |
9 |
109,520,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5634:Fbxw18
|
UTSW |
9 |
109,505,871 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5718:Fbxw18
|
UTSW |
9 |
109,520,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5894:Fbxw18
|
UTSW |
9 |
109,529,235 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5928:Fbxw18
|
UTSW |
9 |
109,529,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6175:Fbxw18
|
UTSW |
9 |
109,505,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Fbxw18
|
UTSW |
9 |
109,517,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6944:Fbxw18
|
UTSW |
9 |
109,531,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Fbxw18
|
UTSW |
9 |
109,517,954 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7737:Fbxw18
|
UTSW |
9 |
109,530,331 (GRCm39) |
nonsense |
probably null |
|
|
R7883:Fbxw18
|
UTSW |
9 |
109,517,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Fbxw18
|
UTSW |
9 |
109,519,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Fbxw18
|
UTSW |
9 |
109,517,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9782:Fbxw18
|
UTSW |
9 |
109,522,376 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATGACTTGTTCATCTAGCCATG -3'
(R):5'- TTCAGGACTGTGATGAAAAGGC -3'
Sequencing Primer
(F):5'- CTGGAACTAGCTCTGTAGACCAG -3'
(R):5'- CACTCCCATTTTGAGTACTGA -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation