Incidental Mutation 'IGL02466:Fbxw22'
ID |
294586 |
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 # |
IGL02466
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109207468-109233362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109214160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 219
(R219G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080626]
[ENSMUST00000197213]
|
AlphaFold |
Q5XG67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080626
AA Change: R219G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079460 Gene: ENSMUSG00000070324 AA Change: R219G
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,247,527 (GRCm39) |
F2425L |
probably benign |
Het |
Adgre4 |
A |
T |
17: 56,121,188 (GRCm39) |
Y418F |
probably benign |
Het |
Adra1a |
G |
T |
14: 66,875,322 (GRCm39) |
C99F |
probably damaging |
Het |
Aox3 |
C |
A |
1: 58,197,431 (GRCm39) |
H592Q |
probably benign |
Het |
Cacna1f |
A |
G |
X: 7,495,644 (GRCm39) |
|
probably null |
Het |
Cacna2d2 |
T |
A |
9: 107,342,753 (GRCm39) |
I100N |
probably damaging |
Het |
Cblif |
A |
T |
19: 11,729,596 (GRCm39) |
N185I |
probably damaging |
Het |
Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col4a3 |
T |
A |
1: 82,647,913 (GRCm39) |
C475S |
unknown |
Het |
Csnk2a2 |
T |
C |
8: 96,203,859 (GRCm39) |
D100G |
possibly damaging |
Het |
Cstf2t |
G |
A |
19: 31,061,277 (GRCm39) |
G271E |
possibly damaging |
Het |
Homez |
A |
G |
14: 55,095,559 (GRCm39) |
F50L |
probably damaging |
Het |
Hspa4l |
C |
T |
3: 40,707,657 (GRCm39) |
Q81* |
probably null |
Het |
Ifi202b |
T |
C |
1: 173,799,875 (GRCm39) |
D202G |
possibly damaging |
Het |
Inava |
T |
C |
1: 136,144,173 (GRCm39) |
|
probably null |
Het |
Mansc1 |
T |
A |
6: 134,587,814 (GRCm39) |
D121V |
probably damaging |
Het |
Or13a24 |
A |
G |
7: 140,154,684 (GRCm39) |
Y206C |
probably benign |
Het |
Or4a27 |
T |
G |
2: 88,559,739 (GRCm39) |
D68A |
probably damaging |
Het |
Or51h5 |
T |
A |
7: 102,577,723 (GRCm39) |
V296E |
possibly damaging |
Het |
P2rx1 |
A |
T |
11: 72,900,410 (GRCm39) |
|
probably null |
Het |
Phactr4 |
A |
G |
4: 132,104,483 (GRCm39) |
|
probably benign |
Het |
Pus10 |
C |
T |
11: 23,675,574 (GRCm39) |
T482I |
probably damaging |
Het |
Scyl2 |
G |
T |
10: 89,488,871 (GRCm39) |
Y206* |
probably null |
Het |
Sell |
G |
A |
1: 163,896,632 (GRCm39) |
|
probably null |
Het |
Slfn10-ps |
C |
T |
11: 82,921,090 (GRCm39) |
|
noncoding transcript |
Het |
Ssh2 |
T |
C |
11: 77,307,233 (GRCm39) |
|
probably benign |
Het |
Tas2r117 |
A |
G |
6: 132,779,963 (GRCm39) |
M34V |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 19,993,631 (GRCm39) |
T3S |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,522,084 (GRCm39) |
I85K |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,770,887 (GRCm39) |
V2110A |
possibly damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp592 |
G |
A |
7: 80,673,746 (GRCm39) |
G237R |
probably damaging |
Het |
Zkscan7 |
A |
G |
9: 122,717,950 (GRCm39) |
E115G |
probably damaging |
Het |
Zranb3 |
G |
A |
1: 127,943,829 (GRCm39) |
T306M |
probably benign |
Het |
|
Other mutations in Fbxw22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00592:Fbxw22
|
APN |
9 |
109,213,108 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
|
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 |
2015-04-16 |