Incidental Mutation 'IGL00820:Fbxw18'
| ID |
10738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw18
|
| Ensembl Gene |
ENSMUSG00000074059 |
| Gene Name |
F-box and WD-40 domain protein 18 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109505802-109531768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109522437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 144
(T144I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098359]
|
| AlphaFold |
Q3TSA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098359
AA Change: T144I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: T144I
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
4.13e-6 |
SMART |
|
Blast:WD40
|
140 |
179 |
2e-7 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,083,878 (GRCm39) |
I631F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,467,664 (GRCm39) |
D314G |
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,068,914 (GRCm39) |
E41G |
possibly damaging |
Het |
| Ephx1 |
T |
C |
1: 180,827,386 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Galt |
C |
T |
4: 41,758,570 (GRCm39) |
A357V |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,252,337 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,294 (GRCm39) |
I2458L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,703 (GRCm39) |
V339A |
possibly damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,604,210 (GRCm39) |
I226T |
probably benign |
Het |
| Mfsd6 |
C |
T |
1: 52,747,465 (GRCm39) |
V467M |
probably damaging |
Het |
| Mrpl16 |
T |
C |
19: 11,751,777 (GRCm39) |
V179A |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,032,672 (GRCm39) |
T179I |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,582,358 (GRCm39) |
T693A |
possibly damaging |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,317 (GRCm39) |
H285R |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spmip6 |
A |
T |
4: 41,507,178 (GRCm39) |
L206Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,679,251 (GRCm39) |
L68P |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,908,129 (GRCm39) |
T163I |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,069,034 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,850,888 (GRCm39) |
E117G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,437,378 (GRCm39) |
|
probably benign |
Het |
| Wipi1 |
A |
C |
11: 109,473,945 (GRCm39) |
|
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,626 (GRCm39) |
C5133S |
unknown |
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 |
|
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 |
|
R2294:Fbxw18
|
UTSW |
9 |
109,505,865 (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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation