Incidental Mutation 'IGL01337:Fbxo34'
| ID |
74678 |
| 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: 0.060)
|
| Stock # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47709992-47769419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47767674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 345
(S345P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043112]
[ENSMUST00000095941]
[ENSMUST00000163324]
[ENSMUST00000165714]
[ENSMUST00000168833]
[ENSMUST00000226395]
[ENSMUST00000226432]
[ENSMUST00000228019]
[ENSMUST00000226954]
[ENSMUST00000228668]
[ENSMUST00000228740]
|
| AlphaFold |
Q80XI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043112
AA Change: S396P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: S396P
| 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: S345P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: S345P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163324
AA Change: S345P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: S345P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165714
AA Change: S345P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: S345P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168833
AA Change: S345P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: S345P
| 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: ENSMUST00000228019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228634
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,645,529 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,620,282 (GRCm39) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,158,763 (GRCm39) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,192,700 (GRCm39) |
P1378L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,800,939 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,376,663 (GRCm39) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,198 (GRCm39) |
S617P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,514 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr182 |
T |
A |
10: 127,586,655 (GRCm39) |
I99F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,057 (GRCm39) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,718 (GRCm39) |
T497A |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,411 (GRCm39) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,934,506 (GRCm39) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,238,669 (GRCm39) |
D644A |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,720 (GRCm39) |
I242T |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,563,121 (GRCm39) |
A242S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,576,856 (GRCm39) |
D132G |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,869 (GRCm39) |
M68L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,488 (GRCm39) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,605 (GRCm39) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,504,768 (GRCm39) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,491 (GRCm39) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,043,792 (GRCm39) |
Y635H |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,098,185 (GRCm39) |
V163L |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,698,091 (GRCm39) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,471,310 (GRCm39) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,450,718 (GRCm39) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,870,216 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,892 (GRCm39) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,518 (GRCm39) |
I203T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,386 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
C |
8: 65,436,387 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,144 (GRCm39) |
I275N |
probably damaging |
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 |
|
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 |
2013-10-07 |
Incidental Mutation