Incidental Mutation 'IGL01775:Fbxo45'
ID 154103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo45
Ensembl Gene ENSMUSG00000035764
Gene Name F-box protein 45
Synonyms 2610017J04Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01775
Quality Score
Status
Chromosome 16
Chromosomal Location 32048930-32065843 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 32052093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042732] [ENSMUST00000042732]
AlphaFold Q8K3B1
Predicted Effect probably null
Transcript: ENSMUST00000042732
SMART Domains Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
FBOX 39 82 4e-4 SMART
SPRY 152 284 1.87e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000042732
SMART Domains Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
FBOX 39 82 4e-4 SMART
SPRY 152 284 1.87e-19 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 FBXO45, 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 (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with respiratory failure, impaired motor neuron innervation and neuromuscular synapse morphology, abnormal sensory neuron projections, absence of several of the major axon tracts in the brain, and impaired neuron migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Adra1b T A 11: 43,726,128 (GRCm39) D263V probably damaging Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Dph6 A T 2: 114,348,776 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Pofut1 T A 2: 153,090,393 (GRCm39) F96I probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Rps8 C A 4: 117,012,249 (GRCm39) R56L probably benign Het
Samhd1 A T 2: 156,956,250 (GRCm39) probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging Het
Other mutations in Fbxo45
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0373:Fbxo45 UTSW 16 32,057,223 (GRCm39) missense probably damaging 0.98
R1966:Fbxo45 UTSW 16 32,052,048 (GRCm39) missense probably benign 0.15
R2056:Fbxo45 UTSW 16 32,057,346 (GRCm39) missense possibly damaging 0.58
R5150:Fbxo45 UTSW 16 32,065,524 (GRCm39) unclassified probably benign
R6664:Fbxo45 UTSW 16 32,057,234 (GRCm39) missense probably damaging 1.00
R7467:Fbxo45 UTSW 16 32,057,339 (GRCm39) missense probably damaging 1.00
R8263:Fbxo45 UTSW 16 32,065,533 (GRCm39) missense unknown
Posted On 2014-02-04