Incidental Mutation 'R5475:Fbxo34'
| ID |
434040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo34
|
| Ensembl Gene |
ENSMUSG00000037536 |
| Gene Name |
F-box protein 34 |
| Synonyms |
5830426G16Rik, 2900057B08Rik |
| MMRRC Submission |
043036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47709992-47769419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47766802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 54
(V54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043112]
[ENSMUST00000095941]
[ENSMUST00000163324]
[ENSMUST00000165714]
[ENSMUST00000168833]
[ENSMUST00000226395]
[ENSMUST00000226432]
[ENSMUST00000228668]
[ENSMUST00000228019]
[ENSMUST00000226954]
[ENSMUST00000228740]
|
| AlphaFold |
Q80XI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043112
AA Change: V105A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: V105A
| 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: V54A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163324
AA Change: V54A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165714
AA Change: V54A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168833
AA Change: V54A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
562 |
602 |
1.84e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226395
AA Change: V54A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226432
AA Change: V54A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228668
AA Change: V54A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227162
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
96% (72/75) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
| Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
| Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
| Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
| Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,361,101 (GRCm39) |
I242T |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
| Cse1l |
T |
C |
2: 166,783,174 (GRCm39) |
S684P |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
| Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,701 (GRCm39) |
M95V |
probably benign |
Het |
| Fam171a1 |
A |
T |
2: 3,226,334 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
| Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
| Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
| Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
| Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
| Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
| Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
| Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
| Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
| Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
| Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
| Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
| Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
| Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTCTCTTGCTAGAAACAGTAGG -3'
(R):5'- TTGACAATAGCCCAGGTCCC -3'
Sequencing Primer
(F):5'- GTAGGATACCTAAGTCAGCTCTC -3'
(R):5'- CAGGCAGCCCCTCCTCAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation