Incidental Mutation 'R2317:Fbxo30'
ID 245530
Institutional Source Beutler Lab
Gene Symbol Fbxo30
Ensembl Gene ENSMUSG00000047648
Gene Name F-box protein 30
Synonyms 1700026A16Rik
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R2317 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 11157074-11173796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11166078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 267 (N267D)
Ref Sequence ENSEMBL: ENSMUSP00000117687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070300] [ENSMUST00000129456]
AlphaFold Q8BJL1
Predicted Effect probably damaging
Transcript: ENSMUST00000070300
AA Change: N267D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: N267D

DomainStartEndE-ValueType
Pfam:zf-TRAF_2 8 100 2.5e-42 PFAM
Pfam:F-box_4 610 725 1.6e-52 PFAM
Pfam:F-box 612 653 3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129456
AA Change: N267D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: N267D

DomainStartEndE-ValueType
PDB:2YRE|A 1 88 6e-51 PDB
SCOP:d1k2fa_ 58 93 7e-3 SMART
Pfam:F-box 612 653 2.3e-7 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Fbxo30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Fbxo30 APN 10 11,166,283 (GRCm39) missense probably benign 0.01
IGL00971:Fbxo30 APN 10 11,166,042 (GRCm39) missense probably benign
IGL02388:Fbxo30 APN 10 11,166,122 (GRCm39) missense probably benign 0.01
PIT4468001:Fbxo30 UTSW 10 11,166,700 (GRCm39) missense possibly damaging 0.95
R0014:Fbxo30 UTSW 10 11,165,603 (GRCm39) nonsense probably null
R0144:Fbxo30 UTSW 10 11,170,964 (GRCm39) missense probably damaging 1.00
R0709:Fbxo30 UTSW 10 11,167,057 (GRCm39) missense possibly damaging 0.79
R1583:Fbxo30 UTSW 10 11,167,118 (GRCm39) missense possibly damaging 0.67
R1791:Fbxo30 UTSW 10 11,165,531 (GRCm39) nonsense probably null
R2018:Fbxo30 UTSW 10 11,166,772 (GRCm39) missense probably damaging 0.98
R3842:Fbxo30 UTSW 10 11,165,856 (GRCm39) missense probably damaging 0.98
R4579:Fbxo30 UTSW 10 11,165,293 (GRCm39) missense probably benign 0.00
R4655:Fbxo30 UTSW 10 11,166,837 (GRCm39) missense probably damaging 1.00
R4751:Fbxo30 UTSW 10 11,165,939 (GRCm39) missense probably benign 0.01
R4998:Fbxo30 UTSW 10 11,166,507 (GRCm39) missense probably damaging 0.98
R5325:Fbxo30 UTSW 10 11,166,846 (GRCm39) missense possibly damaging 0.89
R5463:Fbxo30 UTSW 10 11,166,813 (GRCm39) missense probably damaging 1.00
R5534:Fbxo30 UTSW 10 11,165,409 (GRCm39) missense possibly damaging 0.91
R5594:Fbxo30 UTSW 10 11,166,223 (GRCm39) missense probably benign 0.13
R5757:Fbxo30 UTSW 10 11,166,165 (GRCm39) missense probably benign 0.08
R5917:Fbxo30 UTSW 10 11,165,262 (GRCm39) critical splice acceptor site probably null
R6232:Fbxo30 UTSW 10 11,165,602 (GRCm39) missense possibly damaging 0.90
R6472:Fbxo30 UTSW 10 11,166,975 (GRCm39) missense probably damaging 1.00
R6677:Fbxo30 UTSW 10 11,166,380 (GRCm39) missense possibly damaging 0.61
R6802:Fbxo30 UTSW 10 11,167,224 (GRCm39) missense probably damaging 1.00
R7128:Fbxo30 UTSW 10 11,165,860 (GRCm39) nonsense probably null
R8353:Fbxo30 UTSW 10 11,166,479 (GRCm39) missense probably benign 0.30
R8453:Fbxo30 UTSW 10 11,166,479 (GRCm39) missense probably benign 0.30
R8796:Fbxo30 UTSW 10 11,165,320 (GRCm39) missense probably damaging 1.00
R9215:Fbxo30 UTSW 10 11,167,243 (GRCm39) missense probably damaging 1.00
R9702:Fbxo30 UTSW 10 11,166,382 (GRCm39) missense probably benign 0.04
X0012:Fbxo30 UTSW 10 11,166,210 (GRCm39) missense probably benign 0.00
X0066:Fbxo30 UTSW 10 11,166,556 (GRCm39) missense probably damaging 1.00
Z1176:Fbxo30 UTSW 10 11,171,064 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGCTGCTGCTTTAGATATCC -3'
(R):5'- TTCTGAAGTACCATCAGCTTCC -3'

Sequencing Primer
(F):5'- TTCTGCCACAAGAGACATTGG -3'
(R):5'- AGCTTCCACACAATCTCCATTTG -3'
Posted On 2014-10-30