Incidental Mutation 'IGL02587:Fbxo48'
| ID |
299578 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo48
|
| Ensembl Gene |
ENSMUSG00000044966 |
| Gene Name |
F-box protein 48 |
| Synonyms |
A630050E13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
16901375-16904772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16903659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 95
(I95T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061327]
[ENSMUST00000109635]
|
| AlphaFold |
Q8CAT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061327
AA Change: I95T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057901
Gene: ENSMUSG00000044966
AA Change: I95T
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
38 |
79 |
6.45e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109635
AA Change: I95T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105263
Gene: ENSMUSG00000044966
AA Change: I95T
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
38 |
79 |
6.45e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142777
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
| Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
Het |
|
| Other mutations in Fbxo48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1574:Fbxo48
|
UTSW |
11 |
16,903,368 (GRCm39) |
start gained |
probably benign |
|
|
R1574:Fbxo48
|
UTSW |
11 |
16,903,368 (GRCm39) |
start gained |
probably benign |
|
|
R2359:Fbxo48
|
UTSW |
11 |
16,903,602 (GRCm39) |
nonsense |
probably null |
|
|
R2877:Fbxo48
|
UTSW |
11 |
16,903,382 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2878:Fbxo48
|
UTSW |
11 |
16,903,382 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5288:Fbxo48
|
UTSW |
11 |
16,904,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5384:Fbxo48
|
UTSW |
11 |
16,904,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5385:Fbxo48
|
UTSW |
11 |
16,904,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5491:Fbxo48
|
UTSW |
11 |
16,904,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Fbxo48
|
UTSW |
11 |
16,903,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7732:Fbxo48
|
UTSW |
11 |
16,903,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Fbxo48
|
UTSW |
11 |
16,903,433 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9103:Fbxo48
|
UTSW |
11 |
16,903,556 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9626:Fbxo48
|
UTSW |
11 |
16,904,333 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation