Incidental Mutation 'IGL01122:Fbxw22'
| ID |
51960 |
| 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 # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109207468-109233362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109215739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 170
(S170T)
|
| 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: S170T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079460
Gene: ENSMUSG00000070324
AA Change: S170T
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation