Incidental Mutation 'R0840:Fbxo46'
ID77108
Institutional Source Beutler Lab
Gene Symbol Fbxo46
Ensembl Gene ENSMUSG00000050428
Gene NameF-box protein 46
Synonyms4932704E22Rik, 20D7-FC4, Fbxo34l
MMRRC Submission 039019-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #R0840 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location19119859-19140172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19137148 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 564 (M564K)
Ref Sequence ENSEMBL: ENSMUSP00000129427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032566] [ENSMUST00000053109] [ENSMUST00000165913]
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 possibly damaging
Transcript: ENSMUST00000053109
AA Change: M564K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: M564K

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 possibly damaging
Transcript: ENSMUST00000165913
AA Change: M564K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: M564K

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
Meta Mutation Damage Score 0.5351 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (51/51)
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
1810020O05Rik G T 6: 87,680,278 noncoding transcript Het
2700049A03Rik C G 12: 71,158,883 Q434E probably benign Het
A930011G23Rik T C 5: 99,234,688 T234A probably benign Het
Acot5 G A 12: 84,075,840 W399* probably null Het
Adra1a A G 14: 66,727,710 E383G possibly damaging Het
Ahnak T A 19: 9,005,063 I1237N probably damaging Het
Bsg A G 10: 79,709,685 T28A probably damaging Het
Cacna1i A T 15: 80,358,949 I436F possibly damaging Het
Cd109 T C 9: 78,664,330 I417T probably benign Het
Cep295 A T 9: 15,334,315 D948E probably benign Het
Clcn3 C A 8: 60,929,154 V467F probably benign Het
Cntnap3 T C 13: 64,787,910 S380G possibly damaging Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dll4 T A 2: 119,326,485 N79K probably benign Het
Ep300 A T 15: 81,644,933 N1558I unknown Het
Fblim1 A G 4: 141,581,009 F330L possibly damaging Het
Fnip1 T A 11: 54,493,181 probably benign Het
Foxl2 A T 9: 98,955,931 K91* probably null Het
Gapvd1 C A 2: 34,729,113 V83F probably benign Het
Guk1 G A 11: 59,185,095 R146C probably damaging Het
Irf8 G A 8: 120,753,481 G153S probably benign Het
Kcnu1 T A 8: 25,913,684 M1K probably null Het
Krt32 G A 11: 100,081,242 P427S probably benign Het
Lrp12 A G 15: 39,876,158 S529P probably damaging Het
Mettl22 T C 16: 8,482,157 V134A probably damaging Het
Morc2b G T 17: 33,136,112 H895Q probably benign Het
Nrros T C 16: 32,143,423 D556G probably damaging Het
Nrxn3 A G 12: 90,331,793 S1367G possibly damaging Het
Olfr129 A G 17: 38,055,572 F7S probably benign Het
Olfr504 A T 7: 108,565,616 S60T probably benign Het
Pcnx3 T A 19: 5,685,701 probably null Het
Pgap2 A T 7: 102,237,448 M226L probably damaging Het
Pik3c2g A G 6: 139,896,072 I616M probably damaging Het
Pisd A G 5: 32,737,312 I380T probably damaging Het
Pkhd1 T C 1: 20,350,521 I2454V probably damaging Het
Plpp2 A G 10: 79,527,544 I151T probably benign Het
Polr3a G A 14: 24,452,200 T1295I possibly damaging Het
Pot1a T C 6: 25,748,284 probably benign Het
Prpf39 T G 12: 65,048,206 N219K probably benign Het
Rnf17 T A 14: 56,475,447 N790K probably damaging Het
Slit3 C T 11: 35,623,436 probably benign Het
Stx1a T A 5: 135,041,234 probably benign Het
Tenm3 C A 8: 48,335,742 V690F probably damaging Het
Tmcc3 A G 10: 94,578,771 I143V probably benign Het
Tmem41b G A 7: 109,981,049 S36F probably damaging Het
Trim5 A T 7: 104,265,771 W364R probably damaging Het
Ttn T C 2: 76,786,811 Y16403C probably damaging Het
Vps8 T C 16: 21,456,321 S210P probably damaging Het
Zbtb3 T A 19: 8,803,457 S145T possibly damaging Het
Zfp882 T A 8: 71,914,686 C452* probably null Het
Other mutations in Fbxo46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Fbxo46 APN 7 19136803 missense probably damaging 1.00
IGL01655:Fbxo46 APN 7 19136310 missense probably damaging 1.00
IGL02869:Fbxo46 APN 7 19137214 missense probably damaging 0.99
IGL02940:Fbxo46 APN 7 19135612 missense probably benign 0.00
R0517:Fbxo46 UTSW 7 19136874 missense possibly damaging 0.78
R0894:Fbxo46 UTSW 7 19135729 missense probably damaging 0.98
R1377:Fbxo46 UTSW 7 19136425 missense probably damaging 1.00
R2303:Fbxo46 UTSW 7 19136616 missense possibly damaging 0.69
R4601:Fbxo46 UTSW 7 19135564 missense probably benign
R5394:Fbxo46 UTSW 7 19136616 missense possibly damaging 0.69
R5530:Fbxo46 UTSW 7 19136802 missense probably damaging 1.00
R5743:Fbxo46 UTSW 7 19136495 missense probably damaging 1.00
R6320:Fbxo46 UTSW 7 19136541 missense possibly damaging 0.83
R7639:Fbxo46 UTSW 7 19136635 missense probably damaging 1.00
R7748:Fbxo46 UTSW 7 19136533 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CGTCAAGATATTCAGCTTCCTGCCC -3'
(R):5'- CAAGGTATTTGCCCTGTTGATCCCC -3'

Sequencing Primer
(F):5'- CCACTTCAAGGGGATCATCGAG -3'
(R):5'- TGTTGATCCCCAAACCTGG -3'
Posted On2013-10-16