Incidental Mutation 'IGL03206:Fbxw15'
| ID |
413127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw15
|
| Ensembl Gene |
ENSMUSG00000074060 |
| Gene Name |
F-box and WD-40 domain protein 15 |
| Synonyms |
Fbxo12J |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109381670-109397330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109394430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 128
(N128K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056745]
[ENSMUST00000198112]
[ENSMUST00000198397]
|
| AlphaFold |
L7N1X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056745
AA Change: N128K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058175
Gene: ENSMUSG00000074060
AA Change: N128K
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
|
SCOP:d1flga_
|
73 |
413 |
3e-7 |
SMART |
|
Blast:WD40
|
137 |
176 |
5e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198112
|
| SMART Domains |
Protein: ENSMUSP00000142894
Gene: ENSMUSG00000074060
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
45 |
2.1e-6 |
SMART |
|
SCOP:d1tbga_
|
73 |
196 |
3e-5 |
SMART |
|
Blast:WD40
|
84 |
123 |
1e-5 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198397
AA Change: N128K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143385
Gene: ENSMUSG00000074060
AA Change: N128K
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
|
SCOP:d1tbga_
|
116 |
240 |
1e-3 |
SMART |
|
Blast:WD40
|
137 |
176 |
6e-6 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
| Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly damaging |
Het |
|
| Other mutations in Fbxw15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02094:Fbxw15
|
APN |
9 |
109,387,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02239:Fbxw15
|
APN |
9 |
109,388,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02343:Fbxw15
|
APN |
9 |
109,381,723 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02748:Fbxw15
|
APN |
9 |
109,387,278 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03370:Fbxw15
|
APN |
9 |
109,384,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
lagging
|
UTSW |
9 |
109,384,741 (GRCm39) |
splice site |
probably null |
|
|
R0321:Fbxw15
|
UTSW |
9 |
109,394,453 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0742:Fbxw15
|
UTSW |
9 |
109,384,624 (GRCm39) |
splice site |
probably null |
|
|
R1141:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1143:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1276:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1282:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1283:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1321:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1324:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1341:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1716:Fbxw15
|
UTSW |
9 |
109,386,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1750:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1757:Fbxw15
|
UTSW |
9 |
109,386,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1765:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1799:Fbxw15
|
UTSW |
9 |
109,387,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1826:Fbxw15
|
UTSW |
9 |
109,388,782 (GRCm39) |
splice site |
probably null |
|
|
R1897:Fbxw15
|
UTSW |
9 |
109,387,271 (GRCm39) |
nonsense |
probably null |
|
|
R2237:Fbxw15
|
UTSW |
9 |
109,384,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2346:Fbxw15
|
UTSW |
9 |
109,394,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4391:Fbxw15
|
UTSW |
9 |
109,397,300 (GRCm39) |
start gained |
probably benign |
|
|
R4392:Fbxw15
|
UTSW |
9 |
109,397,300 (GRCm39) |
start gained |
probably benign |
|
|
R4812:Fbxw15
|
UTSW |
9 |
109,388,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5198:Fbxw15
|
UTSW |
9 |
109,387,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5278:Fbxw15
|
UTSW |
9 |
109,384,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5541:Fbxw15
|
UTSW |
9 |
109,394,498 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5899:Fbxw15
|
UTSW |
9 |
109,384,741 (GRCm39) |
splice site |
probably null |
|
|
R5975:Fbxw15
|
UTSW |
9 |
109,384,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6065:Fbxw15
|
UTSW |
9 |
109,397,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Fbxw15
|
UTSW |
9 |
109,386,234 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7357:Fbxw15
|
UTSW |
9 |
109,387,308 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7781:Fbxw15
|
UTSW |
9 |
109,386,330 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8145:Fbxw15
|
UTSW |
9 |
109,384,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8182:Fbxw15
|
UTSW |
9 |
109,384,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8272:Fbxw15
|
UTSW |
9 |
109,388,828 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8713:Fbxw15
|
UTSW |
9 |
109,384,667 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9069:Fbxw15
|
UTSW |
9 |
109,394,468 (GRCm39) |
nonsense |
probably null |
|
|
R9496:Fbxw15
|
UTSW |
9 |
109,397,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0026:Fbxw15
|
UTSW |
9 |
109,387,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation