Incidental Mutation 'R5491:Fbxo48'
| ID |
432091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo48
|
| Ensembl Gene |
ENSMUSG00000044966 |
| Gene Name |
F-box protein 48 |
| Synonyms |
A630050E13Rik |
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
16901375-16904772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16904280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 144
(T144M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061327]
[ENSMUST00000109635]
|
| AlphaFold |
Q8CAT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061327
AA Change: T144M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057901
Gene: ENSMUSG00000044966
AA Change: T144M
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
38 |
79 |
6.45e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109635
AA Change: T144M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105263
Gene: ENSMUSG00000044966
AA Change: T144M
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fbxo48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02587:Fbxo48
|
APN |
11 |
16,903,659 (GRCm39) |
missense |
probably benign |
0.21 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGCTCTGCTTGCAGAC -3'
(R):5'- TGATTTCCCCATAGTATAAGACCAG -3'
Sequencing Primer
(F):5'- GCAGACATGCGCACCAG -3'
(R):5'- TGAGTGCAAAATACAAACAAAGCTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation