Incidental Mutation 'R1583:Fbxo30'
ID 177261
Institutional Source Beutler Lab
Gene Symbol Fbxo30
Ensembl Gene ENSMUSG00000047648
Gene Name F-box protein 30
Synonyms 1700026A16Rik
MMRRC Submission 039620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R1583 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 11157074-11173796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11167118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 613 (H613Q)
Ref Sequence ENSEMBL: ENSMUSP00000117687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070300] [ENSMUST00000129456]
AlphaFold Q8BJL1
Predicted Effect possibly damaging
Transcript: ENSMUST00000070300
AA Change: H613Q

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: H613Q

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 possibly damaging
Transcript: ENSMUST00000129456
AA Change: H613Q

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: H613Q

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
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 99% (79/80)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,030,528 (GRCm39) S691P probably benign Het
Adgrb3 T C 1: 25,265,912 (GRCm39) probably null Het
Ankar A G 1: 72,718,714 (GRCm39) probably benign Het
Aplf A T 6: 87,623,015 (GRCm39) Y355N probably damaging Het
Bms1 A G 6: 118,366,350 (GRCm39) probably benign Het
Catsperb T C 12: 101,429,373 (GRCm39) I182T probably damaging Het
Cd300ld2 T C 11: 114,904,603 (GRCm39) D88G probably benign Het
Cebpz T C 17: 79,242,181 (GRCm39) N491S probably damaging Het
Crybg2 T C 4: 133,808,770 (GRCm39) S1415P probably damaging Het
Ddc A G 11: 11,779,131 (GRCm39) V331A probably benign Het
Decr2 T C 17: 26,301,998 (GRCm39) E244G probably damaging Het
Dhrs11 A G 11: 84,713,943 (GRCm39) M136T probably damaging Het
Eapp G A 12: 54,732,733 (GRCm39) Q126* probably null Het
Fam111a T A 19: 12,565,142 (GRCm39) V297D probably damaging Het
Fbxo10 A C 4: 45,062,118 (GRCm39) L136R probably damaging Het
Frk A T 10: 34,467,806 (GRCm39) probably null Het
Gm10392 T A 11: 77,408,307 (GRCm39) D104V probably benign Het
Gpn1 A G 5: 31,654,682 (GRCm39) E78G possibly damaging Het
Hhip T C 8: 80,716,905 (GRCm39) Y506C probably damaging Het
Hid1 G A 11: 115,247,576 (GRCm39) S274L possibly damaging Het
Immp2l G T 12: 41,750,548 (GRCm39) probably benign Het
Klhl21 T C 4: 152,094,081 (GRCm39) F228L possibly damaging Het
Lamc1 T A 1: 153,119,224 (GRCm39) probably null Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lratd1 G A 12: 14,200,409 (GRCm39) A106V probably benign Het
Magi2 T C 5: 19,432,330 (GRCm39) V15A probably benign Het
Map2k7 T C 8: 4,293,621 (GRCm39) probably null Het
Mga T A 2: 119,794,441 (GRCm39) H2590Q possibly damaging Het
Mlxip T C 5: 123,588,286 (GRCm39) I238T possibly damaging Het
Mylk T A 16: 34,695,956 (GRCm39) D230E probably benign Het
Nacad T A 11: 6,551,185 (GRCm39) T669S probably benign Het
Nin C T 12: 70,078,512 (GRCm39) M1691I probably benign Het
Nlrp4d C T 7: 10,116,164 (GRCm39) A203T probably damaging Het
Or10aa1 T C 1: 173,870,046 (GRCm39) F177L probably benign Het
Or10q12 A T 19: 13,745,874 (GRCm39) H56L probably benign Het
Or4c106 T G 2: 88,682,606 (GRCm39) F104C probably damaging Het
Or4k5 C A 14: 50,386,231 (GRCm39) M33I probably benign Het
Or4k51 A T 2: 111,584,770 (GRCm39) M59L probably damaging Het
Or5ac19 A G 16: 59,089,394 (GRCm39) V212A probably benign Het
Osbp C A 19: 11,955,193 (GRCm39) Q282K probably benign Het
Osbpl2 A G 2: 179,790,256 (GRCm39) S177G probably damaging Het
Pax1 A G 2: 147,208,175 (GRCm39) H261R possibly damaging Het
Pcif1 A T 2: 164,728,647 (GRCm39) L274F probably damaging Het
Pkhd1 A G 1: 20,188,049 (GRCm39) S3420P probably benign Het
Prss3 A C 6: 41,354,561 (GRCm39) probably benign Het
Ptk2b T C 14: 66,400,563 (GRCm39) T751A possibly damaging Het
Pus10 T C 11: 23,623,239 (GRCm39) V126A probably damaging Het
Rai14 A C 15: 10,588,002 (GRCm39) D258E probably damaging Het
Rbp3 T C 14: 33,676,481 (GRCm39) V143A possibly damaging Het
Sarm1 G A 11: 78,374,153 (GRCm39) Q625* probably null Het
Scgb1b21 T G 7: 33,227,092 (GRCm39) noncoding transcript Het
Scrn1 A T 6: 54,497,754 (GRCm39) V279E probably damaging Het
Sipa1l2 T C 8: 126,148,634 (GRCm39) T1670A probably damaging Het
Slc9a4 A T 1: 40,640,122 (GRCm39) I305F probably benign Het
Smarcc1 A G 9: 110,042,685 (GRCm39) T918A probably damaging Het
Tas2r109 A T 6: 132,957,389 (GRCm39) H180Q probably benign Het
Tas2r121 G A 6: 132,677,193 (GRCm39) R260* probably null Het
Tenm3 T C 8: 48,732,109 (GRCm39) D1249G probably benign Het
Tgtp1 C G 11: 48,878,357 (GRCm39) G116A probably damaging Het
Tial1 A G 7: 128,045,634 (GRCm39) Y317H probably damaging Het
Top6bl T A 19: 4,702,199 (GRCm39) K282N probably damaging Het
Trim66 A T 7: 109,054,287 (GRCm39) W1308R probably damaging Het
Ulk2 T G 11: 61,674,371 (GRCm39) K878N possibly damaging Het
Zfp41 T A 15: 75,490,140 (GRCm39) S31T 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
R1791:Fbxo30 UTSW 10 11,165,531 (GRCm39) nonsense probably null
R2018:Fbxo30 UTSW 10 11,166,772 (GRCm39) missense probably damaging 0.98
R2317:Fbxo30 UTSW 10 11,166,078 (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'- GCTGGACTCAATGGATGGATGGAAC -3'
(R):5'- AGCACGAGTAAGTGACTACTTGATGC -3'

Sequencing Primer
(F):5'- ATGGAACAGAGGTGTCCTTTAGC -3'
(R):5'- GTAAGTGACTACTTGATGCTAAGAG -3'
Posted On 2014-04-24