Incidental Mutation 'IGL02940:Fbxo46'
| ID |
364481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo46
|
| Ensembl Gene |
ENSMUSG00000050428 |
| Gene Name |
F-box protein 46 |
| Synonyms |
20D7-FC4, 4932704E22Rik, Fbxo34l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
IGL02940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18853784-18872186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18869537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 52
(H52R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032566]
[ENSMUST00000053109]
[ENSMUST00000165913]
|
| AlphaFold |
Q8BG80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032566
|
| SMART Domains |
Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
48 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
151 |
377 |
2.3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053109
AA Change: H52R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: H52R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
FBOX
|
476 |
516 |
1.9e-5 |
SMART |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165913
AA Change: H52R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: H52R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
FBOX
|
476 |
516 |
1.9e-5 |
SMART |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
T |
A |
8: 95,760,084 (GRCm39) |
V101D |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,380,738 (GRCm39) |
D1765G |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,496,808 (GRCm39) |
K450R |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,885,636 (GRCm39) |
|
probably null |
Het |
| Dbh |
A |
G |
2: 27,058,321 (GRCm39) |
Y163C |
probably damaging |
Het |
| Drc7 |
T |
A |
8: 95,800,925 (GRCm39) |
I649N |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,328,668 (GRCm39) |
A7097T |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,709 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,596 (GRCm39) |
S100* |
probably null |
Het |
| Mrc2 |
C |
T |
11: 105,231,997 (GRCm39) |
R850C |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,373,364 (GRCm39) |
D763G |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,562,735 (GRCm39) |
V508I |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,073 (GRCm39) |
L213Q |
probably damaging |
Het |
| Pgls |
C |
T |
8: 72,046,741 (GRCm39) |
S18L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,467,000 (GRCm39) |
T98A |
probably damaging |
Het |
| Ppp1r36dn |
A |
C |
12: 76,497,944 (GRCm39) |
|
noncoding transcript |
Het |
| Prdm13 |
T |
A |
4: 21,683,421 (GRCm39) |
K180* |
probably null |
Het |
| Rai1 |
T |
C |
11: 60,077,844 (GRCm39) |
V636A |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,091,899 (GRCm39) |
F240S |
possibly damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,187,731 (GRCm39) |
L536P |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,051,243 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,932,471 (GRCm39) |
T1707A |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,743,781 (GRCm39) |
D767E |
probably benign |
Het |
| Tlr7 |
C |
T |
X: 166,090,830 (GRCm39) |
V219I |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,818 (GRCm39) |
S815P |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,017 (GRCm39) |
W57R |
probably damaging |
Het |
| Uxt |
T |
C |
X: 20,826,025 (GRCm39) |
E66G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,475,369 (GRCm39) |
M553K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,951 (GRCm39) |
W685R |
probably benign |
Het |
| Vstm5 |
A |
C |
9: 15,168,962 (GRCm39) |
D144A |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,575 (GRCm39) |
H513R |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,656,295 (GRCm39) |
|
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,261,492 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fbxo46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Fbxo46
|
APN |
7 |
18,870,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01655:Fbxo46
|
APN |
7 |
18,870,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Fbxo46
|
APN |
7 |
18,871,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0517:Fbxo46
|
UTSW |
7 |
18,870,799 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0840:Fbxo46
|
UTSW |
7 |
18,871,073 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0894:Fbxo46
|
UTSW |
7 |
18,869,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1377:Fbxo46
|
UTSW |
7 |
18,870,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Fbxo46
|
UTSW |
7 |
18,870,541 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4601:Fbxo46
|
UTSW |
7 |
18,869,489 (GRCm39) |
missense |
probably benign |
|
|
R5394:Fbxo46
|
UTSW |
7 |
18,870,541 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5530:Fbxo46
|
UTSW |
7 |
18,870,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Fbxo46
|
UTSW |
7 |
18,870,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Fbxo46
|
UTSW |
7 |
18,870,466 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7639:Fbxo46
|
UTSW |
7 |
18,870,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Fbxo46
|
UTSW |
7 |
18,870,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8348:Fbxo46
|
UTSW |
7 |
18,870,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Fbxo46
|
UTSW |
7 |
18,869,325 (GRCm39) |
start gained |
probably benign |
|
|
R9108:Fbxo46
|
UTSW |
7 |
18,870,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9464:Fbxo46
|
UTSW |
7 |
18,870,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation