Incidental Mutation 'IGL01447:Fbxw18'
ID |
84446 |
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: 0.061)
|
Stock # |
IGL01447
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109505802-109531768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109530675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 41
(S41C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095962
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098359]
|
AlphaFold |
Q3TSA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098359
AA Change: S41C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095962 Gene: ENSMUSG00000074059 AA Change: S41C
Domain | Start | End | E-Value | Type |
FBOX
|
8 |
48 |
4.13e-6 |
SMART |
Blast:WD40
|
140 |
179 |
2e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198949
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
T |
G |
2: 22,743,194 (GRCm39) |
I342S |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,005,923 (GRCm39) |
S591T |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,772,654 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,848,579 (GRCm39) |
C533* |
probably null |
Het |
Cacna2d4 |
A |
G |
6: 119,219,865 (GRCm39) |
S212G |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,942 (GRCm39) |
R150G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,011,902 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cmklr1 |
T |
C |
5: 113,752,282 (GRCm39) |
T240A |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,059,276 (GRCm39) |
D208G |
probably benign |
Het |
Egr3 |
C |
A |
14: 70,316,732 (GRCm39) |
P143Q |
probably damaging |
Het |
Focad |
T |
A |
4: 88,244,465 (GRCm39) |
I815N |
unknown |
Het |
Heatr5b |
T |
C |
17: 79,137,026 (GRCm39) |
T165A |
probably benign |
Het |
Iqub |
G |
T |
6: 24,505,627 (GRCm39) |
L94I |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,147,583 (GRCm39) |
L121P |
probably damaging |
Het |
Mansc1 |
G |
A |
6: 134,594,289 (GRCm39) |
L118F |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,615,214 (GRCm39) |
H1693R |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,416,831 (GRCm39) |
Q3259R |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,988,189 (GRCm39) |
S273G |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,640,554 (GRCm39) |
C336R |
possibly damaging |
Het |
Or10al6 |
C |
T |
17: 38,083,122 (GRCm39) |
L193F |
probably damaging |
Het |
Or1f19 |
A |
G |
16: 3,410,848 (GRCm39) |
N196S |
possibly damaging |
Het |
Or1j11 |
A |
T |
2: 36,311,466 (GRCm39) |
I19F |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,216 (GRCm39) |
V262A |
possibly damaging |
Het |
Or5aq1 |
A |
T |
2: 86,966,343 (GRCm39) |
Y107* |
probably null |
Het |
Or5d36 |
T |
C |
2: 87,901,468 (GRCm39) |
N86S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,579,971 (GRCm39) |
A967T |
probably damaging |
Het |
Rspo1 |
T |
C |
4: 124,898,829 (GRCm39) |
V50A |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,682,274 (GRCm39) |
|
probably benign |
Het |
Scamp1 |
C |
T |
13: 94,340,530 (GRCm39) |
A280T |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,488,911 (GRCm39) |
I251T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,441,600 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
A |
4: 43,518,251 (GRCm39) |
K251* |
probably null |
Het |
Ttn |
A |
G |
2: 76,571,250 (GRCm39) |
S26548P |
probably damaging |
Het |
Ugcg |
T |
G |
4: 59,213,865 (GRCm39) |
V149G |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,045,177 (GRCm39) |
N784K |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,633 (GRCm39) |
D580G |
probably damaging |
Het |
Vmn1r83 |
T |
C |
7: 12,055,424 (GRCm39) |
K211R |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,781,680 (GRCm39) |
Y431C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,032,083 (GRCm39) |
D619G |
possibly 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 |
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 |
2013-11-11 |