Incidental Mutation 'IGL00592:Fbxw22'
ID |
4812 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw22
|
Ensembl Gene |
ENSMUSG00000070324 |
Gene Name |
F-box and WD-40 domain protein 22 |
Synonyms |
Gm5164 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL00592
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109207468-109233362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 109213108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 280
(V280F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080626]
[ENSMUST00000197213]
|
AlphaFold |
Q5XG67 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080626
AA Change: V280F
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000079460 Gene: ENSMUSG00000070324 AA Change: V280F
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
1.02e-5 |
SMART |
SCOP:d1gxra_
|
128 |
220 |
1e-5 |
SMART |
Blast:WD40
|
137 |
176 |
6e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197213
|
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 |
Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
Other mutations in Fbxw22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00655:Fbxw22
|
APN |
9 |
109,211,312 (GRCm39) |
splice site |
probably benign |
|
IGL01122:Fbxw22
|
APN |
9 |
109,215,739 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01419:Fbxw22
|
APN |
9 |
109,210,790 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01455:Fbxw22
|
APN |
9 |
109,214,062 (GRCm39) |
missense |
probably benign |
|
IGL01486:Fbxw22
|
APN |
9 |
109,207,941 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01734:Fbxw22
|
APN |
9 |
109,212,993 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02106:Fbxw22
|
APN |
9 |
109,231,087 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02255:Fbxw22
|
APN |
9 |
109,215,619 (GRCm39) |
splice site |
probably benign |
|
IGL02466:Fbxw22
|
APN |
9 |
109,214,160 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Fbxw22
|
APN |
9 |
109,215,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Fbxw22
|
UTSW |
9 |
109,210,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R0705:Fbxw22
|
UTSW |
9 |
109,232,164 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0741:Fbxw22
|
UTSW |
9 |
109,211,287 (GRCm39) |
missense |
probably benign |
0.01 |
R1603:Fbxw22
|
UTSW |
9 |
109,207,915 (GRCm39) |
missense |
probably benign |
0.00 |
R1673:Fbxw22
|
UTSW |
9 |
109,211,196 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1874:Fbxw22
|
UTSW |
9 |
109,214,179 (GRCm39) |
nonsense |
probably null |
|
R2265:Fbxw22
|
UTSW |
9 |
109,213,062 (GRCm39) |
missense |
probably benign |
0.02 |
R2269:Fbxw22
|
UTSW |
9 |
109,213,062 (GRCm39) |
missense |
probably benign |
0.02 |
R2385:Fbxw22
|
UTSW |
9 |
109,211,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R4329:Fbxw22
|
UTSW |
9 |
109,213,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R4695:Fbxw22
|
UTSW |
9 |
109,207,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Fbxw22
|
UTSW |
9 |
109,207,937 (GRCm39) |
missense |
probably benign |
0.02 |
R4915:Fbxw22
|
UTSW |
9 |
109,213,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R5010:Fbxw22
|
UTSW |
9 |
109,232,492 (GRCm39) |
missense |
probably benign |
0.40 |
R5070:Fbxw22
|
UTSW |
9 |
109,214,183 (GRCm39) |
missense |
probably benign |
|
R5319:Fbxw22
|
UTSW |
9 |
109,213,015 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5571:Fbxw22
|
UTSW |
9 |
109,232,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5765:Fbxw22
|
UTSW |
9 |
109,214,064 (GRCm39) |
missense |
probably benign |
0.00 |
R5846:Fbxw22
|
UTSW |
9 |
109,215,829 (GRCm39) |
missense |
probably benign |
|
R6002:Fbxw22
|
UTSW |
9 |
109,210,750 (GRCm39) |
nonsense |
probably null |
|
R6180:Fbxw22
|
UTSW |
9 |
109,215,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6313:Fbxw22
|
UTSW |
9 |
109,232,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R6860:Fbxw22
|
UTSW |
9 |
109,213,030 (GRCm39) |
missense |
probably benign |
0.01 |
R6949:Fbxw22
|
UTSW |
9 |
109,211,144 (GRCm39) |
missense |
probably benign |
0.06 |
R7084:Fbxw22
|
UTSW |
9 |
109,233,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Fbxw22
|
UTSW |
9 |
109,211,143 (GRCm39) |
missense |
probably benign |
|
R8499:Fbxw22
|
UTSW |
9 |
109,214,068 (GRCm39) |
missense |
probably benign |
0.00 |
R9088:Fbxw22
|
UTSW |
9 |
109,207,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Fbxw22
|
UTSW |
9 |
109,215,653 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9501:Fbxw22
|
UTSW |
9 |
109,207,920 (GRCm39) |
missense |
probably benign |
0.01 |
R9600:Fbxw22
|
UTSW |
9 |
109,212,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |