Incidental Mutation 'IGL03154:Fbxw13'
| ID |
411186 |
| 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 # |
IGL03154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109008295-109025043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109010533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 368
(F368L)
|
| 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: F368L
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: F368L
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
A |
G |
19: 20,608,132 (GRCm39) |
E318G |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,810 (GRCm39) |
W257R |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,268 (GRCm39) |
E1253G |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,767 (GRCm39) |
N208I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,851,907 (GRCm39) |
D3655E |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,221,484 (GRCm39) |
D858V |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,845,232 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,507 (GRCm39) |
M1L |
probably benign |
Het |
| Igkv4-90 |
C |
T |
6: 68,784,256 (GRCm39) |
G87R |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,441,424 (GRCm39) |
G413S |
probably null |
Het |
| Iqch |
T |
A |
9: 63,361,964 (GRCm39) |
T850S |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,984,455 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,379,386 (GRCm39) |
S109P |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,337,038 (GRCm39) |
L1617P |
probably damaging |
Het |
| Or11g24 |
A |
T |
14: 50,662,080 (GRCm39) |
I35F |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,655 (GRCm39) |
I214F |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,072 (GRCm39) |
V220D |
possibly damaging |
Het |
| Or52b3 |
G |
T |
7: 102,203,913 (GRCm39) |
V141L |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,857 (GRCm39) |
V727A |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,274,786 (GRCm39) |
H229R |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,806 (GRCm39) |
G1304S |
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,451,153 (GRCm39) |
N56S |
possibly damaging |
Het |
| Skint8 |
T |
A |
4: 111,796,707 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,625,255 (GRCm39) |
M1565K |
possibly damaging |
Het |
| Uso1 |
C |
A |
5: 92,328,477 (GRCm39) |
S358* |
probably null |
Het |
|
| Other mutations in Fbxw13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02033:Fbxw13
|
APN |
9 |
109,010,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02455:Fbxw13
|
APN |
9 |
109,012,255 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
2016-08-02 |
Incidental Mutation