Incidental Mutation 'R5150:Fbxo45'
ID 395319
Institutional Source Beutler Lab
Gene Symbol Fbxo45
Ensembl Gene ENSMUSG00000035764
Gene Name F-box protein 45
Synonyms 2610017J04Rik
Accession Numbers
Essential gene? Not available question?
Stock # R5150 (G1)
Quality Score 85
Status Not validated
Chromosome 16
Chromosomal Location 32048930-32065843 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 32065524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000042732] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
AlphaFold Q8K3B1
Predicted Effect probably benign
Transcript: ENSMUST00000023474
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000042732
AA Change: G36C
SMART Domains Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764
AA Change: G36C

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 noncoding transcript
Transcript: ENSMUST00000116790
Predicted Effect probably benign
Transcript: ENSMUST00000135289
Predicted Effect probably benign
Transcript: ENSMUST00000141820
Predicted Effect probably benign
Transcript: ENSMUST00000178573
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 93% (57/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 T C 2: 130,895,117 (GRCm39) probably benign Het
Ahnak T C 19: 8,988,268 (GRCm39) V3184A possibly damaging Het
Aoc1 A G 6: 48,883,084 (GRCm39) N320S possibly damaging Het
Bin2 T C 15: 100,543,244 (GRCm39) E313G probably damaging Het
Brd10 C A 19: 29,782,950 (GRCm39) A109S probably damaging Het
C9orf72 A G 4: 35,193,270 (GRCm39) S228P possibly damaging Het
Ccdc47 T C 11: 106,096,265 (GRCm39) D253G possibly damaging Het
Ccdc73 A G 2: 104,822,384 (GRCm39) T778A probably benign Het
Cops3 C A 11: 59,710,839 (GRCm39) D377Y probably damaging Het
Cyp4a14 A C 4: 115,350,806 (GRCm39) V156G probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Disp1 C A 1: 182,871,063 (GRCm39) M452I probably damaging Het
Fam210b T C 2: 172,193,468 (GRCm39) Y94H probably damaging Het
Flrt2 T A 12: 95,745,977 (GRCm39) M105K possibly damaging Het
Gm26558 G A 2: 70,491,656 (GRCm39) probably benign Het
Gpr83 T G 9: 14,772,101 (GRCm39) L91R probably damaging Het
Greb1l TTTAATAACTT TTT 18: 10,555,950 (GRCm39) probably null Het
Hmces T A 6: 87,910,217 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ksr2 A C 5: 117,693,074 (GRCm39) E174A probably damaging Het
Lats1 A G 10: 7,588,415 (GRCm39) T1011A probably benign Het
Lrrc46 T C 11: 96,926,957 (GRCm39) D120G probably damaging Het
Ncstn C A 1: 171,895,151 (GRCm39) probably benign Het
Neb T C 2: 52,059,130 (GRCm39) T6118A probably benign Het
Nipsnap2 A C 5: 129,834,175 (GRCm39) M272L probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or13c7c A G 4: 43,836,301 (GRCm39) L63P probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or4f15 T A 2: 111,814,366 (GRCm39) T18S probably benign Het
Or4f61 T A 2: 111,922,880 (GRCm39) L55F possibly damaging Het
Or4g17 T A 2: 111,209,598 (GRCm39) D84E probably damaging Het
Or5b118 A T 19: 13,448,794 (GRCm39) Q153H probably benign Het
Pold1 A G 7: 44,185,256 (GRCm39) V750A possibly damaging Het
Prdm11 C T 2: 92,805,817 (GRCm39) E378K probably damaging Het
Ptpn9 A G 9: 56,943,954 (GRCm39) D276G probably benign Het
Rlf A T 4: 121,005,369 (GRCm39) F1204I probably damaging Het
Robo1 C A 16: 72,769,192 (GRCm39) T537K possibly damaging Het
Sec31b T A 19: 44,508,970 (GRCm39) M670L probably benign Het
Sephs1 T A 2: 4,904,321 (GRCm39) V233E possibly damaging Het
Serpinb2 T C 1: 107,450,939 (GRCm39) probably null Het
Sf3b3 T C 8: 111,550,008 (GRCm39) Q670R possibly damaging Het
Slc8a2 A C 7: 15,879,101 (GRCm39) D529A possibly damaging Het
Sva A G 6: 42,019,093 (GRCm39) N88D probably benign Het
Tcf15 G T 2: 151,986,051 (GRCm39) R169L probably damaging Het
Tfr2 A G 5: 137,572,752 (GRCm39) T188A probably benign Het
Tshz1 T A 18: 84,031,340 (GRCm39) K1023* probably null Het
Ttc28 A G 5: 111,373,555 (GRCm39) N966S probably damaging Het
Unc5c T A 3: 141,463,554 (GRCm39) I225N probably damaging Het
Ush2a T C 1: 188,184,067 (GRCm39) L1457S possibly damaging Het
Zbtb34 G T 2: 33,301,133 (GRCm39) H469Q probably damaging Het
Zfp692 T C 11: 58,198,413 (GRCm39) M1T probably null Het
Other mutations in Fbxo45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Fbxo45 APN 16 32,052,093 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TCACCTTGGCCTTGTAGCTG -3'
(R):5'- ATCCCATCAAGCTTTAGGGAGC -3'

Sequencing Primer
(F):5'- CAGGTTGCAGAGGATGTCC -3'
(R):5'- AACAGTCACTTCCGGGCAGAG -3'
Posted On 2016-06-21