Incidental Mutation 'IGL02502:Fbxo7'
ID 296113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo7
Ensembl Gene ENSMUSG00000001786
Gene Name F-box protein 7
Synonyms 2410015K21Rik, A230052G17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02502
Quality Score
Status
Chromosome 10
Chromosomal Location 85857836-85887737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85869161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 284 (Y284C)
Ref Sequence ENSEMBL: ENSMUSP00000120840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001837] [ENSMUST00000117597] [ENSMUST00000120344] [ENSMUST00000130320] [ENSMUST00000147168]
AlphaFold Q3U7U3
Predicted Effect probably benign
Transcript: ENSMUST00000001837
SMART Domains Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786

DomainStartEndE-ValueType
Blast:UBQ 1 40 7e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117597
AA Change: Y203C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: Y203C

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 101 245 9.6e-31 PFAM
Pfam:F-box 250 297 2.7e-6 PFAM
Pfam:F-box-like 252 298 7.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120344
AA Change: Y205C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: Y205C

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 103 247 4.8e-31 PFAM
Pfam:F-box 252 299 1.8e-6 PFAM
Pfam:F-box-like 254 300 5.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130320
AA Change: Y284C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: Y284C

DomainStartEndE-ValueType
SCOP:d1euvb_ 1 78 7e-6 SMART
Blast:UBQ 1 79 6e-30 BLAST
Pfam:PI31_Prot_N 188 323 4.7e-20 PFAM
Pfam:F-box 331 378 9.7e-6 PFAM
Pfam:F-box-like 333 379 9.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134490
Predicted Effect probably benign
Transcript: ENSMUST00000147168
Coding Region Coverage
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 may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(4) Gene trapped(3)
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
Arhgef6 T C X: 56,325,623 (GRCm39) E282G probably damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Eif4g2 T C 7: 110,680,748 (GRCm39) S3G probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Myh10 A G 11: 68,705,198 (GRCm39) probably null Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or52n4b T A 7: 108,143,846 (GRCm39) M36K probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Pmm2 T C 16: 8,463,227 (GRCm39) probably benign Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) probably benign Het
Other mutations in Fbxo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Fbxo7 APN 10 85,864,928 (GRCm39) missense probably damaging 0.98
IGL01483:Fbxo7 APN 10 85,880,445 (GRCm39) missense probably damaging 1.00
IGL02712:Fbxo7 APN 10 85,860,302 (GRCm39) missense possibly damaging 0.75
P0007:Fbxo7 UTSW 10 85,869,157 (GRCm39) missense possibly damaging 0.95
R0410:Fbxo7 UTSW 10 85,865,102 (GRCm39) critical splice donor site probably null
R4119:Fbxo7 UTSW 10 85,857,759 (GRCm39) unclassified probably benign
R4604:Fbxo7 UTSW 10 85,882,666 (GRCm39) missense probably damaging 1.00
R4884:Fbxo7 UTSW 10 85,865,014 (GRCm39) missense probably damaging 0.99
R5088:Fbxo7 UTSW 10 85,857,784 (GRCm39) unclassified probably benign
R5286:Fbxo7 UTSW 10 85,857,954 (GRCm39) missense probably damaging 1.00
R5387:Fbxo7 UTSW 10 85,860,518 (GRCm39) missense probably benign 0.01
R5451:Fbxo7 UTSW 10 85,864,901 (GRCm39) missense probably benign 0.01
R5491:Fbxo7 UTSW 10 85,883,890 (GRCm39) missense probably damaging 1.00
R5542:Fbxo7 UTSW 10 85,869,149 (GRCm39) missense probably benign 0.00
R5647:Fbxo7 UTSW 10 85,864,974 (GRCm39) missense probably damaging 0.98
R6027:Fbxo7 UTSW 10 85,883,950 (GRCm39) missense probably damaging 1.00
R6152:Fbxo7 UTSW 10 85,860,560 (GRCm39) missense probably benign 0.01
R6280:Fbxo7 UTSW 10 85,864,969 (GRCm39) missense probably benign 0.00
R6615:Fbxo7 UTSW 10 85,880,398 (GRCm39) missense possibly damaging 0.48
R7405:Fbxo7 UTSW 10 85,880,445 (GRCm39) missense probably damaging 1.00
R8785:Fbxo7 UTSW 10 85,860,410 (GRCm39) missense probably benign 0.02
R9743:Fbxo7 UTSW 10 85,883,773 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16