Incidental Mutation 'R7639:Fbxo46'
ID 590129
Institutional Source Beutler Lab
Gene Symbol Fbxo46
Ensembl Gene ENSMUSG00000050428
Gene Name F-box protein 46
Synonyms 20D7-FC4, 4932704E22Rik, Fbxo34l
MMRRC Submission 045697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R7639 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18853784-18872186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18870560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 393 (V393E)
Ref Sequence ENSEMBL: ENSMUSP00000055692 (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: V393E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: V393E

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: V393E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: V393E

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,977,531 (GRCm39) M381L probably benign Het
Abl1 T A 2: 31,669,173 (GRCm39) L184Q probably damaging Het
Atp8b1 A G 18: 64,697,614 (GRCm39) V410A possibly damaging Het
Bhmt2 C T 13: 93,799,822 (GRCm39) G205R probably damaging Het
Bicd1 A G 6: 149,414,502 (GRCm39) D405G possibly damaging Het
Brip1 A T 11: 86,043,648 (GRCm39) probably null Het
Ccdc180 A T 4: 45,928,043 (GRCm39) I1193F possibly damaging Het
Cdc14b A G 13: 64,353,143 (GRCm39) C478R possibly damaging Het
Celsr1 C T 15: 85,814,073 (GRCm39) E1950K probably benign Het
Cnot7 A G 8: 40,960,494 (GRCm39) probably null Het
Defa34 A T 8: 22,155,883 (GRCm39) K24I probably benign Het
Dsg4 G T 18: 20,582,769 (GRCm39) D136Y probably damaging Het
Dync2h1 C A 9: 7,141,254 (GRCm39) V1258F probably damaging Het
Erbb3 A G 10: 128,405,716 (GRCm39) S1181P probably damaging Het
Evl A G 12: 108,652,362 (GRCm39) D366G probably damaging Het
Fam234b A T 6: 135,202,798 (GRCm39) probably null Het
Fanca A G 8: 124,018,134 (GRCm39) probably null Het
Gkap1 T G 13: 58,411,784 (GRCm39) K63T probably damaging Het
Hfm1 T A 5: 107,037,791 (GRCm39) D742V probably benign Het
Hfm1 A G 5: 107,046,341 (GRCm39) V515A possibly damaging Het
Itga10 G A 3: 96,556,898 (GRCm39) V207I probably benign Het
Lipi T A 16: 75,357,743 (GRCm39) Y274F probably benign Het
Mettl8 A T 2: 70,812,526 (GRCm39) S36R probably benign Het
Miip A T 4: 147,947,021 (GRCm39) M244K probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Nat10 G A 2: 103,573,435 (GRCm39) A354V probably damaging Het
Nav1 T C 1: 135,398,860 (GRCm39) N574S probably benign Het
Nlrc4 C T 17: 74,754,952 (GRCm39) probably null Het
Oas2 C T 5: 120,883,751 (GRCm39) W244* probably null Het
Oat A T 7: 132,168,530 (GRCm39) I163N probably damaging Het
Or7a41 A G 10: 78,871,206 (GRCm39) D192G probably damaging Het
Otop3 T C 11: 115,235,187 (GRCm39) M273T possibly damaging Het
Poln A C 5: 34,290,495 (GRCm39) V60G possibly damaging Het
Ppp1r13b G T 12: 111,800,049 (GRCm39) A699E probably damaging Het
Rims1 A T 1: 22,844,750 (GRCm39) M19K probably benign Het
Rnf145 T C 11: 44,422,184 (GRCm39) L89P probably damaging Het
Rock1 A G 18: 10,140,244 (GRCm39) S116P probably damaging Het
Rtn3 C T 19: 7,435,356 (GRCm39) C212Y probably benign Het
Smcp G A 3: 92,491,797 (GRCm39) P17S unknown Het
Syne2 A C 12: 75,981,273 (GRCm39) E1525A probably damaging Het
Tpra1 A G 6: 88,887,158 (GRCm39) D172G probably benign Het
Traf2 TAGA TA 2: 25,427,100 (GRCm39) probably null Het
Trpa1 T C 1: 14,957,137 (GRCm39) T760A probably benign Het
Unc13c T A 9: 73,840,450 (GRCm39) S134C probably damaging Het
Zfp729b C T 13: 67,739,971 (GRCm39) V765I 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
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
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'- CTATTGGCCAGGGCTGATGAAG -3'
(R):5'- TCTCCAGGAAGTCGTGTGAC -3'

Sequencing Primer
(F):5'- GCCAGTGAGGGTGAGACAC -3'
(R):5'- TGTGACACATGCCGGTACAG -3'
Posted On 2019-10-24