Incidental Mutation 'R5807:Fbxo21'
ID 448577
Institutional Source Beutler Lab
Gene Symbol Fbxo21
Ensembl Gene ENSMUSG00000032898
Gene Name F-box protein 21
Synonyms 2810425J22Rik
MMRRC Submission 043393-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R5807 (G1)
Quality Score 101
Status Validated
Chromosome 5
Chromosomal Location 118114835-118148263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118114933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 23 (E23G)
Ref Sequence ENSEMBL: ENSMUSP00000143873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035579] [ENSMUST00000202447]
AlphaFold Q8VDH1
Predicted Effect probably benign
Transcript: ENSMUST00000035579
AA Change: E23G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: E23G

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Blast:FBOX 33 73 6e-8 BLAST
Pfam:Transglut_core2 215 390 3e-43 PFAM
low complexity region 482 491 N/A INTRINSIC
YccV-like 500 597 8.22e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201427
Predicted Effect probably benign
Transcript: ENSMUST00000201611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201889
Predicted Effect probably benign
Transcript: ENSMUST00000202447
AA Change: E23G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: E23G

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Blast:FBOX 33 73 6e-8 BLAST
Pfam:Transglut_core2 215 390 3e-43 PFAM
low complexity region 482 491 N/A INTRINSIC
YccV-like 500 597 8.22e-39 SMART
Meta Mutation Damage Score 0.0584 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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 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. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,342,651 (GRCm39) L943P probably damaging Het
Abcg5 C A 17: 84,979,719 (GRCm39) V214F probably damaging Het
Ang T A 14: 51,338,886 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,523,546 (GRCm39) probably null Het
Arhgef4 A G 1: 34,846,696 (GRCm39) probably benign Het
Atp11b T C 3: 35,866,428 (GRCm39) I409T probably damaging Het
Atp5f1b G A 10: 127,924,431 (GRCm39) probably benign Het
Atp9a G A 2: 168,495,454 (GRCm39) A660V probably damaging Het
Avpr1a A G 10: 122,285,376 (GRCm39) T223A probably benign Het
Bmp2k T C 5: 97,211,353 (GRCm39) M507T unknown Het
Cep295 A G 9: 15,243,828 (GRCm39) S287P probably damaging Het
Chrna7 T A 7: 62,798,349 (GRCm39) D111V probably damaging Het
Clxn A T 16: 14,734,836 (GRCm39) I69F probably benign Het
Cnr2 A G 4: 135,644,747 (GRCm39) D275G probably benign Het
Col28a1 T A 6: 8,158,144 (GRCm39) M305L probably benign Het
Cpb1 T A 3: 20,317,906 (GRCm39) D206V probably damaging Het
Cyp2c50 T C 19: 40,101,944 (GRCm39) L453S probably damaging Het
Ddx52 T G 11: 83,840,508 (GRCm39) S284A probably benign Het
Eif2ak4 G T 2: 118,219,332 (GRCm39) R48L probably benign Het
Esrrb A G 12: 86,561,175 (GRCm39) E303G possibly damaging Het
Fcamr T C 1: 130,739,263 (GRCm39) S188P probably damaging Het
Fer1l6 C A 15: 58,462,399 (GRCm39) S818* probably null Het
Fn1 T C 1: 71,687,218 (GRCm39) D213G probably damaging Het
Gcg A G 2: 62,306,069 (GRCm39) I176T possibly damaging Het
Glis1 T A 4: 107,425,279 (GRCm39) S109T probably benign Het
Gm266 T C 12: 111,452,173 (GRCm39) D11G probably benign Het
Gm5070 C A 3: 95,317,965 (GRCm39) noncoding transcript Het
Gm8444 T C 15: 81,727,654 (GRCm39) probably benign Het
Golga4 A G 9: 118,356,198 (GRCm39) T117A probably damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Gvin-ps5 T A 7: 105,929,430 (GRCm39) noncoding transcript Het
Herc2 T A 7: 55,880,667 (GRCm39) F4766L probably damaging Het
Inhbc C A 10: 127,193,411 (GRCm39) E202* probably null Het
Kcnu1 C T 8: 26,339,742 (GRCm39) T20I possibly damaging Het
Klhdc3 T C 17: 46,988,391 (GRCm39) D161G probably damaging Het
Krt84 T A 15: 101,438,647 (GRCm39) K280M probably damaging Het
Krtap9-5 T A 11: 99,839,895 (GRCm39) C199S unknown Het
Mrgprb3 A G 7: 48,293,110 (GRCm39) V147A probably benign Het
Ndufs6 A T 13: 73,475,553 (GRCm39) F48L probably damaging Het
Obscn T C 11: 58,970,476 (GRCm39) S2586G probably damaging Het
Or10n1 A G 9: 39,525,759 (GRCm39) R299G probably benign Het
Or13c7b C A 4: 43,820,912 (GRCm39) V150L probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Osbpl6 A G 2: 76,414,857 (GRCm39) D416G probably damaging Het
Pdilt A G 7: 119,099,766 (GRCm39) probably benign Het
Phf12 C A 11: 77,913,252 (GRCm39) D401E probably benign Het
Pla2r1 C T 2: 60,259,065 (GRCm39) V1108M possibly damaging Het
Prim2 A G 1: 33,519,487 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,701,947 (GRCm39) H406R probably benign Het
Qpctl G T 7: 18,877,132 (GRCm39) H329N probably damaging Het
Ripk3 T A 14: 56,022,755 (GRCm39) N390Y probably damaging Het
Rnase1 A G 14: 51,382,907 (GRCm39) V149A probably benign Het
Rtn3 T A 19: 7,434,192 (GRCm39) D581V probably damaging Het
Slamf1 A G 1: 171,602,630 (GRCm39) Y119C probably damaging Het
Slc25a34 A G 4: 141,350,973 (GRCm39) M12T probably benign Het
Tmem38a A G 8: 73,333,944 (GRCm39) Y141C probably damaging Het
Tnr C T 1: 159,714,500 (GRCm39) T793I possibly damaging Het
Tns3 T C 11: 8,443,211 (GRCm39) D384G probably damaging Het
Vmn2r116 T A 17: 23,606,281 (GRCm39) Y398N probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Other mutations in Fbxo21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Fbxo21 APN 5 118,126,855 (GRCm39) missense probably benign 0.04
IGL02131:Fbxo21 APN 5 118,140,155 (GRCm39) missense possibly damaging 0.76
IGL02156:Fbxo21 APN 5 118,132,733 (GRCm39) splice site probably benign
IGL02195:Fbxo21 APN 5 118,140,219 (GRCm39) missense probably damaging 1.00
IGL02702:Fbxo21 APN 5 118,138,575 (GRCm39) missense probably damaging 1.00
PIT1430001:Fbxo21 UTSW 5 118,115,931 (GRCm39) missense possibly damaging 0.68
R0008:Fbxo21 UTSW 5 118,146,078 (GRCm39) missense possibly damaging 0.63
R0055:Fbxo21 UTSW 5 118,138,555 (GRCm39) missense probably benign 0.12
R0055:Fbxo21 UTSW 5 118,138,555 (GRCm39) missense probably benign 0.12
R0089:Fbxo21 UTSW 5 118,146,208 (GRCm39) missense probably benign
R0101:Fbxo21 UTSW 5 118,133,521 (GRCm39) missense probably damaging 1.00
R0815:Fbxo21 UTSW 5 118,133,573 (GRCm39) splice site probably benign
R0866:Fbxo21 UTSW 5 118,115,098 (GRCm39) missense probably benign 0.01
R1673:Fbxo21 UTSW 5 118,146,129 (GRCm39) missense probably benign 0.27
R2048:Fbxo21 UTSW 5 118,146,169 (GRCm39) missense probably damaging 1.00
R2063:Fbxo21 UTSW 5 118,115,031 (GRCm39) missense probably benign 0.45
R2161:Fbxo21 UTSW 5 118,133,451 (GRCm39) missense probably damaging 1.00
R2224:Fbxo21 UTSW 5 118,146,188 (GRCm39) missense probably damaging 1.00
R3872:Fbxo21 UTSW 5 118,138,394 (GRCm39) missense possibly damaging 0.70
R4750:Fbxo21 UTSW 5 118,138,533 (GRCm39) missense probably benign 0.10
R6075:Fbxo21 UTSW 5 118,126,948 (GRCm39) missense probably damaging 0.97
R6528:Fbxo21 UTSW 5 118,138,421 (GRCm39) missense probably benign 0.25
R7494:Fbxo21 UTSW 5 118,138,388 (GRCm39) missense possibly damaging 0.86
R7498:Fbxo21 UTSW 5 118,140,239 (GRCm39) critical splice donor site probably null
R7801:Fbxo21 UTSW 5 118,124,189 (GRCm39) missense probably damaging 0.96
R7857:Fbxo21 UTSW 5 118,126,878 (GRCm39) missense probably benign 0.21
R7944:Fbxo21 UTSW 5 118,146,212 (GRCm39) missense possibly damaging 0.89
R7945:Fbxo21 UTSW 5 118,146,212 (GRCm39) missense possibly damaging 0.89
R8116:Fbxo21 UTSW 5 118,128,919 (GRCm39) missense possibly damaging 0.70
R8354:Fbxo21 UTSW 5 118,133,479 (GRCm39) missense probably damaging 1.00
R8454:Fbxo21 UTSW 5 118,133,479 (GRCm39) missense probably damaging 1.00
R8751:Fbxo21 UTSW 5 118,140,127 (GRCm39) missense probably damaging 1.00
R9273:Fbxo21 UTSW 5 118,146,108 (GRCm39) missense probably damaging 1.00
R9483:Fbxo21 UTSW 5 118,127,272 (GRCm39) missense possibly damaging 0.52
Z1177:Fbxo21 UTSW 5 118,127,236 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CGCGAAAGGACCATTTATCTCTG -3'
(R):5'- AAAAGATGCGCCTCCTCCTG -3'

Sequencing Primer
(F):5'- AGGACCATTTATCTCTGCAGCAG -3'
(R):5'- AACGGGATGCTCGCTCAC -3'
Posted On 2016-12-15