Incidental Mutation 'IGL02239:Fbxw15'
ID |
286017 |
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 # |
IGL02239
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109381670-109397330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109388905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 168
(I168T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056745]
[ENSMUST00000198112]
[ENSMUST00000198397]
|
AlphaFold |
L7N1X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056745
AA Change: I168T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000058175 Gene: ENSMUSG00000074060 AA Change: I168T
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
AA Change: I115T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000142894 Gene: ENSMUSG00000074060 AA Change: I115T
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 |
probably benign
Transcript: ENSMUST00000198397
AA Change: I168T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000143385 Gene: ENSMUSG00000074060 AA Change: I168T
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,369,386 (GRCm39) |
E262G |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
Galm |
A |
G |
17: 80,452,467 (GRCm39) |
D135G |
probably damaging |
Het |
Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
Qrsl1 |
G |
A |
10: 43,770,596 (GRCm39) |
P99S |
possibly damaging |
Het |
Rfx8 |
T |
C |
1: 39,720,046 (GRCm39) |
D343G |
probably benign |
Het |
Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,917,982 (GRCm39) |
I575F |
probably benign |
Het |
Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
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 |
IGL03206:Fbxw15
|
APN |
9 |
109,394,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
2015-04-16 |