Incidental Mutation 'IGL02614:Fbxo27'
ID 300612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo27
Ensembl Gene ENSMUSG00000037463
Gene Name F-box protein 27
Synonyms E130008B10Rik, LOC233040, FBG5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02614
Quality Score
Status
Chromosome 7
Chromosomal Location 28392274-28398763 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 28396201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000039998] [ENSMUST00000108280] [ENSMUST00000108281] [ENSMUST00000151227]
AlphaFold Q6DIA9
Predicted Effect probably null
Transcript: ENSMUST00000039998
SMART Domains Protein: ENSMUSP00000038432
Gene: ENSMUSG00000037463

DomainStartEndE-ValueType
FBOX 26 67 1.31e-8 SMART
low complexity region 74 87 N/A INTRINSIC
FBA 95 276 1.2e-101 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108280
SMART Domains Protein: ENSMUSP00000103915
Gene: ENSMUSG00000037463

DomainStartEndE-ValueType
FBA 1 153 9.59e-78 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108281
SMART Domains Protein: ENSMUSP00000103916
Gene: ENSMUSG00000037463

DomainStartEndE-ValueType
FBOX 26 67 1.31e-8 SMART
low complexity region 74 87 N/A INTRINSIC
FBA 95 277 6.64e-104 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127368
Predicted Effect probably benign
Transcript: ENSMUST00000151227
SMART Domains Protein: ENSMUSP00000116838
Gene: ENSMUSG00000037463

DomainStartEndE-ValueType
FBOX 26 67 1.31e-8 SMART
Coding Region Coverage
Validation Efficiency
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 FBXO27, 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,215 (GRCm39) probably benign Het
Acadsb A G 7: 131,026,357 (GRCm39) T67A probably benign Het
Aff2 A G X: 68,907,693 (GRCm39) D1225G possibly damaging Het
Atp2a2 T C 5: 122,627,366 (GRCm39) D133G probably benign Het
Cacul1 A T 19: 60,551,661 (GRCm39) M187K possibly damaging Het
Celf4 A G 18: 25,637,207 (GRCm39) Y263H probably damaging Het
Cmbl G T 15: 31,589,830 (GRCm39) V187F probably damaging Het
Epha1 T C 6: 42,337,491 (GRCm39) N896S probably benign Het
Galnt16 T C 12: 80,623,337 (GRCm39) S166P probably damaging Het
Gm1110 A G 9: 26,832,010 (GRCm39) V47A probably benign Het
Gmnn A G 13: 24,944,137 (GRCm39) probably benign Het
Gpbp1 T C 13: 111,573,007 (GRCm39) I382V probably benign Het
Gpr87 C A 3: 59,086,738 (GRCm39) V256L probably damaging Het
Il4ra C A 7: 125,174,962 (GRCm39) S390* probably null Het
Itprid1 A T 6: 55,945,262 (GRCm39) D661V probably damaging Het
Lrrc47 T C 4: 154,103,392 (GRCm39) probably null Het
Lrriq4 A T 3: 30,709,788 (GRCm39) L362F probably damaging Het
Lrrtm4 A T 6: 79,998,827 (GRCm39) N79Y probably benign Het
Nr1i2 T A 16: 38,074,118 (GRCm39) H165L probably damaging Het
Or10g1b T C 14: 52,627,627 (GRCm39) E201G probably damaging Het
Phf11a T A 14: 59,516,817 (GRCm39) T214S possibly damaging Het
Prr14l A T 5: 32,987,887 (GRCm39) I536K possibly damaging Het
Rpn1 T A 6: 88,079,087 (GRCm39) I510N probably benign Het
Sall4 A T 2: 168,597,805 (GRCm39) L20Q probably null Het
Sema3f T C 9: 107,559,710 (GRCm39) E759G probably benign Het
Slc5a1 T C 5: 33,311,945 (GRCm39) S446P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Ttn T C 2: 76,542,331 (GRCm39) T31806A possibly damaging Het
Ubr1 T C 2: 120,701,460 (GRCm39) probably benign Het
Vac14 T G 8: 111,361,750 (GRCm39) L214R probably damaging Het
Vmn2r58 T C 7: 41,486,553 (GRCm39) K781E probably damaging Het
Vmn2r92 T C 17: 18,387,503 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp609 G A 9: 65,610,072 (GRCm39) P964S probably damaging Het
Other mutations in Fbxo27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1959:Fbxo27 UTSW 7 28,397,797 (GRCm39) missense possibly damaging 0.87
R6994:Fbxo27 UTSW 7 28,392,785 (GRCm39) missense probably damaging 0.99
R8520:Fbxo27 UTSW 7 28,392,767 (GRCm39) missense probably benign 0.36
R9235:Fbxo27 UTSW 7 28,397,756 (GRCm39) nonsense probably null
Z1186:Fbxo27 UTSW 7 28,394,438 (GRCm39) missense probably benign 0.00
Z1186:Fbxo27 UTSW 7 28,392,347 (GRCm39) unclassified probably benign
Posted On 2015-04-16