Incidental Mutation 'IGL02033:Fbxw13'
ID |
184421 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw13
|
Ensembl Gene |
ENSMUSG00000049314 |
Gene Name |
F-box and WD-40 domain protein 13 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02033
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109008295-109025043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109010484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 385
(I385V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061456]
[ENSMUST00000199102]
[ENSMUST00000199118]
|
AlphaFold |
Q8BI57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061456
AA Change: I385V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053786 Gene: ENSMUSG00000049314 AA Change: I385V
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
9.33e-5 |
SMART |
SCOP:d1gxra_
|
128 |
249 |
8e-7 |
SMART |
Blast:WD40
|
137 |
176 |
2e-7 |
BLAST |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199102
|
SMART Domains |
Protein: ENSMUSP00000142352 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
SCOP:d1gxra_
|
45 |
166 |
1e-7 |
SMART |
Blast:WD40
|
54 |
93 |
7e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199118
|
SMART Domains |
Protein: ENSMUSP00000143174 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.25e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
Adam30 |
G |
T |
3: 98,068,787 (GRCm39) |
V79F |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
Lrrc28 |
C |
T |
7: 67,209,605 (GRCm39) |
|
probably null |
Het |
Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,661,232 (GRCm39) |
|
probably benign |
Het |
Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
Spata16 |
G |
A |
3: 26,967,483 (GRCm39) |
|
probably null |
Het |
Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
possibly damaging |
Het |
|
Other mutations in Fbxw13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02455:Fbxw13
|
APN |
9 |
109,012,255 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03154:Fbxw13
|
APN |
9 |
109,010,533 (GRCm39) |
missense |
probably damaging |
0.96 |
R0304:Fbxw13
|
UTSW |
9 |
109,023,789 (GRCm39) |
missense |
probably benign |
0.02 |
R1259:Fbxw13
|
UTSW |
9 |
109,014,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Fbxw13
|
UTSW |
9 |
109,010,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Fbxw13
|
UTSW |
9 |
109,010,611 (GRCm39) |
missense |
probably benign |
0.10 |
R2877:Fbxw13
|
UTSW |
9 |
109,010,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Fbxw13
|
UTSW |
9 |
109,010,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Fbxw13
|
UTSW |
9 |
109,013,299 (GRCm39) |
nonsense |
probably null |
|
R4321:Fbxw13
|
UTSW |
9 |
109,010,503 (GRCm39) |
missense |
probably benign |
0.10 |
R4969:Fbxw13
|
UTSW |
9 |
109,010,592 (GRCm39) |
splice site |
probably null |
|
R5024:Fbxw13
|
UTSW |
9 |
109,008,403 (GRCm39) |
missense |
probably benign |
0.00 |
R5450:Fbxw13
|
UTSW |
9 |
109,013,225 (GRCm39) |
missense |
probably benign |
0.41 |
R5957:Fbxw13
|
UTSW |
9 |
109,021,734 (GRCm39) |
critical splice donor site |
probably null |
|
R6801:Fbxw13
|
UTSW |
9 |
109,023,795 (GRCm39) |
missense |
probably null |
1.00 |
R7448:Fbxw13
|
UTSW |
9 |
109,014,471 (GRCm39) |
missense |
unknown |
|
R7710:Fbxw13
|
UTSW |
9 |
109,024,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Fbxw13
|
UTSW |
9 |
109,012,122 (GRCm39) |
missense |
probably benign |
0.45 |
R8320:Fbxw13
|
UTSW |
9 |
109,012,134 (GRCm39) |
missense |
probably benign |
0.02 |
R8714:Fbxw13
|
UTSW |
9 |
109,023,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8845:Fbxw13
|
UTSW |
9 |
109,023,833 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8884:Fbxw13
|
UTSW |
9 |
109,010,469 (GRCm39) |
missense |
probably benign |
0.00 |
R8979:Fbxw13
|
UTSW |
9 |
109,013,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R9223:Fbxw13
|
UTSW |
9 |
109,024,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Fbxw13
|
UTSW |
9 |
109,008,382 (GRCm39) |
missense |
probably benign |
0.17 |
X0065:Fbxw13
|
UTSW |
9 |
109,021,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2014-05-07 |