Incidental Mutation 'IGL00159:Fbxo34'
| ID |
969 |
| 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 # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47709992-47769419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47766931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 97
(H97R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043112]
[ENSMUST00000095941]
[ENSMUST00000163324]
[ENSMUST00000165714]
[ENSMUST00000168833]
[ENSMUST00000226395]
[ENSMUST00000226432]
[ENSMUST00000228668]
[ENSMUST00000226954]
[ENSMUST00000228740]
[ENSMUST00000228019]
|
| AlphaFold |
Q80XI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043112
AA Change: H148R
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: H148R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
45 |
N/A |
INTRINSIC |
|
FBOX
|
613 |
653 |
1.84e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095941
AA Change: H97R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163324
AA Change: H97R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165714
AA Change: H97R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168833
AA Change: H97R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: H97R
| 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 damaging
Transcript: ENSMUST00000228668
AA Change: H97R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228019
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
| Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
| Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
| Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
| Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
| Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
| Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
| Other mutations in Fbxo34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02829:Fbxo34
|
APN |
14 |
47,767,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2011-07-12 |
Incidental Mutation