Incidental Mutation 'IGL01090:Fbxo46'
ID 51496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo46
Ensembl Gene ENSMUSG00000050428
Gene Name F-box protein 46
Synonyms 20D7-FC4, 4932704E22Rik, Fbxo34l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL01090
Quality Score
Status
Chromosome 7
Chromosomal Location 18853784-18872186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18870728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 449 (Y449C)
Ref Sequence ENSEMBL: ENSMUSP00000129427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032566] [ENSMUST00000053109] [ENSMUST00000165913]
AlphaFold Q8BG80
Predicted Effect probably benign
Transcript: ENSMUST00000032566
SMART Domains Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407

DomainStartEndE-ValueType
low complexity region 27 48 N/A INTRINSIC
Pfam:Peptidase_M28 151 377 2.3e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053109
AA Change: Y449C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: Y449C

DomainStartEndE-ValueType
low complexity region 274 292 N/A INTRINSIC
low complexity region 337 358 N/A INTRINSIC
low complexity region 366 375 N/A INTRINSIC
low complexity region 415 424 N/A INTRINSIC
FBOX 476 516 1.9e-5 SMART
low complexity region 591 603 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165913
AA Change: Y449C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: Y449C

DomainStartEndE-ValueType
low complexity region 274 292 N/A INTRINSIC
low complexity region 337 358 N/A INTRINSIC
low complexity region 366 375 N/A INTRINSIC
low complexity region 415 424 N/A INTRINSIC
FBOX 476 516 1.9e-5 SMART
low complexity region 591 603 N/A INTRINSIC
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 FBXO46, 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,896,099 (GRCm39) S316P possibly damaging Het
Actn1 A T 12: 80,245,846 (GRCm39) probably null Het
Agbl3 T C 6: 34,776,822 (GRCm39) Y443H probably benign Het
Akap13 T A 7: 75,316,279 (GRCm39) D578E probably benign Het
Aldoa A T 7: 126,395,207 (GRCm39) H292Q probably benign Het
Als2 T C 1: 59,254,775 (GRCm39) K194R possibly damaging Het
Bivm C A 1: 44,168,451 (GRCm39) H244N probably damaging Het
Cabp5 G A 7: 13,139,412 (GRCm39) E146K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap251 A C 5: 123,418,052 (GRCm39) probably benign Het
Clcn4 A G 7: 7,297,035 (GRCm39) V129A probably benign Het
Clec4g A G 8: 3,769,482 (GRCm39) S54P probably damaging Het
Crim1 G T 17: 78,654,658 (GRCm39) V645L probably damaging Het
Csta1 T C 16: 35,945,421 (GRCm39) T31A probably damaging Het
D930048N14Rik T C 11: 51,544,610 (GRCm39) probably benign Het
Dhx34 G T 7: 15,950,181 (GRCm39) P329Q probably damaging Het
Dusp16 T C 6: 134,702,912 (GRCm39) N193S probably benign Het
Fbn1 A G 2: 125,236,696 (GRCm39) probably benign Het
Fmo4 C A 1: 162,637,354 (GRCm39) probably null Het
Foxi3 C A 6: 70,937,729 (GRCm39) N320K probably damaging Het
Gm9964 A G 11: 79,187,210 (GRCm39) L79P unknown Het
Gpr161 T C 1: 165,134,149 (GRCm39) I137T probably damaging Het
Herc1 C T 9: 66,376,457 (GRCm39) Q3426* probably null Het
Hps5 C T 7: 46,437,751 (GRCm39) R108H probably benign Het
Itch T A 2: 155,048,256 (GRCm39) V540E probably damaging Het
L3mbtl1 C A 2: 162,807,925 (GRCm39) P520H probably damaging Het
Mvp A G 7: 126,588,859 (GRCm39) V636A probably benign Het
Odf4 A G 11: 68,812,778 (GRCm39) probably benign Het
Or7g18 A G 9: 18,787,538 (GRCm39) K305R probably benign Het
Pld1 T C 3: 28,142,816 (GRCm39) S675P probably benign Het
Plod3 A G 5: 137,019,090 (GRCm39) D325G probably benign Het
Prss12 T C 3: 123,276,388 (GRCm39) V339A possibly damaging Het
Ptpn13 T A 5: 103,689,180 (GRCm39) L991Q probably null Het
Ptpn3 T A 4: 57,240,833 (GRCm39) I261F probably damaging Het
Rab3gap1 T C 1: 127,858,124 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,847 (GRCm39) R373G possibly damaging Het
Rmi1 T C 13: 58,557,208 (GRCm39) S486P probably damaging Het
Slc25a23 A G 17: 57,354,233 (GRCm39) I139T probably benign Het
Sspo T A 6: 48,467,059 (GRCm39) S4017T probably benign Het
Tcaf1 C A 6: 42,663,556 (GRCm39) C108F probably benign Het
Tnc T C 4: 63,918,317 (GRCm39) Q1198R probably damaging Het
Tnni3k G T 3: 154,645,320 (GRCm39) Q522K possibly damaging Het
Trio T A 15: 27,773,093 (GRCm39) E713V probably damaging Het
Ugt2b34 C A 5: 87,041,679 (GRCm39) V338F probably damaging Het
Usp40 T A 1: 87,890,187 (GRCm39) M892L probably benign Het
Usp54 A T 14: 20,636,225 (GRCm39) probably benign Het
Vmn2r53 T C 7: 12,334,835 (GRCm39) E275G possibly damaging Het
Vmn2r87 A G 10: 130,333,247 (GRCm39) M1T probably null Het
Wdr83os A T 8: 85,808,476 (GRCm39) D76V probably damaging Het
Other mutations in Fbxo46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Fbxo46 APN 7 18,870,235 (GRCm39) missense probably damaging 1.00
IGL02869:Fbxo46 APN 7 18,871,139 (GRCm39) missense probably damaging 0.99
IGL02940:Fbxo46 APN 7 18,869,537 (GRCm39) missense probably benign 0.00
R0517:Fbxo46 UTSW 7 18,870,799 (GRCm39) missense possibly damaging 0.78
R0840:Fbxo46 UTSW 7 18,871,073 (GRCm39) missense possibly damaging 0.90
R0894:Fbxo46 UTSW 7 18,869,654 (GRCm39) missense probably damaging 0.98
R1377:Fbxo46 UTSW 7 18,870,350 (GRCm39) missense probably damaging 1.00
R2303:Fbxo46 UTSW 7 18,870,541 (GRCm39) missense possibly damaging 0.69
R4601:Fbxo46 UTSW 7 18,869,489 (GRCm39) missense probably benign
R5394:Fbxo46 UTSW 7 18,870,541 (GRCm39) missense possibly damaging 0.69
R5530:Fbxo46 UTSW 7 18,870,727 (GRCm39) missense probably damaging 1.00
R5743:Fbxo46 UTSW 7 18,870,420 (GRCm39) missense probably damaging 1.00
R6320:Fbxo46 UTSW 7 18,870,466 (GRCm39) missense possibly damaging 0.83
R7639:Fbxo46 UTSW 7 18,870,560 (GRCm39) missense probably damaging 1.00
R7748:Fbxo46 UTSW 7 18,870,458 (GRCm39) missense probably damaging 0.98
R8348:Fbxo46 UTSW 7 18,870,469 (GRCm39) missense probably damaging 1.00
R9068:Fbxo46 UTSW 7 18,869,325 (GRCm39) start gained probably benign
R9108:Fbxo46 UTSW 7 18,870,308 (GRCm39) missense probably damaging 0.99
R9464:Fbxo46 UTSW 7 18,870,791 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21