Incidental Mutation 'IGL02829:Fbxo34'
| ID |
361361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo34
|
| Ensembl Gene |
ENSMUSG00000037536 |
| Gene Name |
F-box protein 34 |
| Synonyms |
5830426G16Rik, 2900057B08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47709992-47769419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47767146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 220
(I220V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043112]
[ENSMUST00000095941]
[ENSMUST00000163324]
[ENSMUST00000165714]
[ENSMUST00000168833]
[ENSMUST00000226395]
[ENSMUST00000226432]
[ENSMUST00000228668]
[ENSMUST00000228019]
[ENSMUST00000228740]
[ENSMUST00000226954]
|
| AlphaFold |
Q80XI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043112
AA Change: I220V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: I220V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
45 |
N/A |
INTRINSIC |
|
FBOX
|
613 |
653 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095941
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: I169V
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163324
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: I169V
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165714
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: I169V
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168833
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: I169V
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226954
|
| 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 FBXO34, 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
| Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
| Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
| Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
| D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
| Dglucy |
A |
C |
12: 100,837,663 (GRCm39) |
H602P |
probably damaging |
Het |
| Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
| Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
| Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
| Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
| Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
| Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,891,014 (GRCm39) |
C51S |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
| Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
| Sema4g |
G |
A |
19: 44,981,188 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,061 (GRCm39) |
Y158* |
probably null |
Het |
| Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
| Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Wdr70 |
C |
T |
15: 8,006,463 (GRCm39) |
D363N |
possibly damaging |
Het |
| Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
probably benign |
Het |
|
| Other mutations in Fbxo34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Fbxo34
|
APN |
14 |
47,766,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01337:Fbxo34
|
APN |
14 |
47,767,674 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01418:Fbxo34
|
APN |
14 |
47,768,241 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02069:Fbxo34
|
APN |
14 |
47,767,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Fbxo34
|
UTSW |
14 |
47,767,714 (GRCm39) |
missense |
probably benign |
|
|
R0714:Fbxo34
|
UTSW |
14 |
47,767,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Fbxo34
|
UTSW |
14 |
47,768,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1714:Fbxo34
|
UTSW |
14 |
47,766,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Fbxo34
|
UTSW |
14 |
47,768,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2127:Fbxo34
|
UTSW |
14 |
47,767,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4199:Fbxo34
|
UTSW |
14 |
47,768,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Fbxo34
|
UTSW |
14 |
47,767,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Fbxo34
|
UTSW |
14 |
47,768,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Fbxo34
|
UTSW |
14 |
47,768,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Fbxo34
|
UTSW |
14 |
47,766,911 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5475:Fbxo34
|
UTSW |
14 |
47,766,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5888:Fbxo34
|
UTSW |
14 |
47,767,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6573:Fbxo34
|
UTSW |
14 |
47,767,124 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7236:Fbxo34
|
UTSW |
14 |
47,767,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7257:Fbxo34
|
UTSW |
14 |
47,738,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7381:Fbxo34
|
UTSW |
14 |
47,767,992 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7515:Fbxo34
|
UTSW |
14 |
47,767,798 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7562:Fbxo34
|
UTSW |
14 |
47,767,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8190:Fbxo34
|
UTSW |
14 |
47,767,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9094:Fbxo34
|
UTSW |
14 |
47,767,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9620:Fbxo34
|
UTSW |
14 |
47,768,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Fbxo34
|
UTSW |
14 |
47,768,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Fbxo34
|
UTSW |
14 |
47,768,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation