Incidental Mutation 'IGL02032:Fbxo36'
| ID |
184408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo36
|
| Ensembl Gene |
ENSMUSG00000073633 |
| Gene Name |
F-box protein 36 |
| Synonyms |
2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
84817562-84878208 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 84874387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097672]
|
| AlphaFold |
Q9CQ24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097672
|
| SMART Domains |
Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
97 |
137 |
1.58e-2 |
SMART |
|
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151737
|
| 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 FBXO36, 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,398,543 (GRCm39) |
I176T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,038,651 (GRCm39) |
A463T |
probably benign |
Het |
| Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
| Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
| Exd1 |
T |
G |
2: 119,363,948 (GRCm39) |
Q140P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,172,714 (GRCm39) |
V284E |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
| Spopfm1 |
T |
C |
3: 94,173,640 (GRCm39) |
V212A |
probably damaging |
Het |
| Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
| Other mutations in Fbxo36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02184:Fbxo36
|
APN |
1 |
84,858,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Fbxo36
|
UTSW |
1 |
84,858,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1621:Fbxo36
|
UTSW |
1 |
84,817,595 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2005:Fbxo36
|
UTSW |
1 |
84,877,790 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2403:Fbxo36
|
UTSW |
1 |
84,877,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2857:Fbxo36
|
UTSW |
1 |
84,874,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2858:Fbxo36
|
UTSW |
1 |
84,874,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4618:Fbxo36
|
UTSW |
1 |
84,877,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Fbxo36
|
UTSW |
1 |
84,874,251 (GRCm39) |
nonsense |
probably null |
|
|
R7472:Fbxo36
|
UTSW |
1 |
84,874,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Fbxo36
|
UTSW |
1 |
84,874,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Fbxo36
|
UTSW |
1 |
84,874,259 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2014-05-07 |
Incidental Mutation