Incidental Mutation 'IGL00417:Fbxo33'
| ID |
4412 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo33
|
| Ensembl Gene |
ENSMUSG00000035329 |
| Gene Name |
F-box protein 33 |
| Synonyms |
5730501N20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
59247441-59266511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59249456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 476
(V476A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043204]
[ENSMUST00000161351]
|
| AlphaFold |
Q8VE08 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043204
AA Change: V476A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329
AA Change: V476A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
58 |
N/A |
INTRINSIC |
|
FBOX
|
74 |
114 |
3.3e-5 |
SMART |
|
low complexity region
|
154 |
176 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
262 |
347 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160204
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161351
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162855
AA Change: V45A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
| Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
| Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
| C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
| Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
| Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
| Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
| Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
| Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
| Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
| Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
| Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
| Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
| Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
| Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
| Other mutations in Fbxo33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03006:Fbxo33
|
APN |
12 |
59,251,105 (GRCm39) |
missense |
probably benign |
0.05 |
|
D4216:Fbxo33
|
UTSW |
12 |
59,252,836 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0751:Fbxo33
|
UTSW |
12 |
59,265,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Fbxo33
|
UTSW |
12 |
59,251,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1686:Fbxo33
|
UTSW |
12 |
59,251,626 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4085:Fbxo33
|
UTSW |
12 |
59,247,591 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4363:Fbxo33
|
UTSW |
12 |
59,251,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Fbxo33
|
UTSW |
12 |
59,251,217 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4751:Fbxo33
|
UTSW |
12 |
59,247,714 (GRCm39) |
intron |
probably benign |
|
|
R4807:Fbxo33
|
UTSW |
12 |
59,265,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Fbxo33
|
UTSW |
12 |
59,265,919 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5379:Fbxo33
|
UTSW |
12 |
59,266,246 (GRCm39) |
unclassified |
probably benign |
|
|
R5887:Fbxo33
|
UTSW |
12 |
59,251,545 (GRCm39) |
nonsense |
probably null |
|
|
R6170:Fbxo33
|
UTSW |
12 |
59,251,435 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6244:Fbxo33
|
UTSW |
12 |
59,252,865 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7378:Fbxo33
|
UTSW |
12 |
59,251,157 (GRCm39) |
nonsense |
probably null |
|
|
R7873:Fbxo33
|
UTSW |
12 |
59,265,807 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8681:Fbxo33
|
UTSW |
12 |
59,265,830 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9180:Fbxo33
|
UTSW |
12 |
59,251,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9742:Fbxo33
|
UTSW |
12 |
59,251,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Fbxo33
|
UTSW |
12 |
59,251,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation