Incidental Mutation 'R5530:Fbxo46'
ID 433635
Institutional Source Beutler Lab
Gene Symbol Fbxo46
Ensembl Gene ENSMUSG00000050428
Gene Name F-box protein 46
Synonyms 20D7-FC4, 4932704E22Rik, Fbxo34l
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 18853784-18872186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18870727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 449 (Y449H)
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: Y449H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: Y449H

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: Y449H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: Y449H

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
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Fbxo46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Fbxo46 APN 7 18,870,728 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCATCTTCTTTGGCAAAGATG -3'
(R):5'- AAGCCTCGATGATCCCCTTG -3'

Sequencing Primer
(F):5'- TGAAGGAAGAGACTGTGTGCCTG -3'
(R):5'- CTCGATGATCCCCTTGAAGTGG -3'
Posted On 2016-10-06