Incidental Mutation 'R6770:Fbxo39'
ID 532136
Institutional Source Beutler Lab
Gene Symbol Fbxo39
Ensembl Gene ENSMUSG00000070388
Gene Name F-box protein 39
Synonyms 1700010H23Rik
MMRRC Submission 044886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6770 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 72205270-72210242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 72208622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 325 (S325A)
Ref Sequence ENSEMBL: ENSMUSP00000104144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108504] [ENSMUST00000146233]
AlphaFold Q5NBU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000108504
AA Change: S325A

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104144
Gene: ENSMUSG00000070388
AA Change: S325A

DomainStartEndE-ValueType
FBOX 19 59 7.88e-3 SMART
SCOP:d1a4ya_ 130 274 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146233
SMART Domains Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483

DomainStartEndE-ValueType
PDB:2LXW|A 228 270 3e-12 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (45/45)
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 FBXO39, 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk A G 14: 21,284,982 (GRCm39) K102E probably damaging Het
Bach2 G A 4: 32,575,240 (GRCm39) V489I possibly damaging Het
Bin1 A G 18: 32,539,202 (GRCm39) E45G probably damaging Het
Btnl4 A G 17: 34,693,011 (GRCm39) Y135H probably benign Het
Btnl9 T C 11: 49,066,392 (GRCm39) probably null Het
Cdh10 A G 15: 18,985,308 (GRCm39) D324G probably benign Het
Cfi T C 3: 129,652,379 (GRCm39) S269P probably benign Het
Ctbp1 G A 5: 33,408,204 (GRCm39) Q243* probably null Het
Dnajc1 G T 2: 18,222,082 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gbe1 T C 16: 70,198,726 (GRCm39) S140P probably damaging Het
Gbe1 T A 16: 70,111,153 (GRCm39) L38Q possibly damaging Het
Gm5114 T C 7: 39,057,967 (GRCm39) S551G possibly damaging Het
Ina C T 19: 47,003,366 (GRCm39) probably benign Het
Irs3 A G 5: 137,643,475 (GRCm39) V103A possibly damaging Het
Ldb2 T A 5: 44,826,738 (GRCm39) T66S probably damaging Het
Lrp4 C T 2: 91,327,648 (GRCm39) A1499V probably benign Het
Nde1 G A 16: 14,006,242 (GRCm39) V96I probably damaging Het
Nrap T C 19: 56,370,969 (GRCm39) probably null Het
Nrxn1 G T 17: 90,344,607 (GRCm39) N435K probably damaging Het
Obscn T C 11: 58,934,862 (GRCm39) D5256G possibly damaging Het
Or1e25 A G 11: 73,493,804 (GRCm39) T133A probably benign Het
Or4a75 A G 2: 89,448,206 (GRCm39) V110A probably benign Het
Or52n20 T A 7: 104,320,725 (GRCm39) I272N probably damaging Het
Or8c14-ps1 T C 9: 38,101,479 (GRCm39) F153L possibly damaging Het
Otoa T A 7: 120,744,837 (GRCm39) M865K probably benign Het
Otud1 A G 2: 19,663,993 (GRCm39) E374G probably benign Het
Pigz T A 16: 31,764,568 (GRCm39) L542H probably damaging Het
Plekhg5 A G 4: 152,187,536 (GRCm39) T101A probably benign Het
Ppic A T 18: 53,544,657 (GRCm39) V51E probably benign Het
Ptpn14 G A 1: 189,564,970 (GRCm39) V186M probably damaging Het
Ryr2 T A 13: 11,753,348 (GRCm39) T1658S probably damaging Het
Scn7a T A 2: 66,559,528 (GRCm39) probably null Het
Siva1 G A 12: 112,614,358 (GRCm39) C73Y probably damaging Het
Slc4a1ap G A 5: 31,685,226 (GRCm39) probably null Het
Sltm A G 9: 70,492,059 (GRCm39) I683V unknown Het
Srgap2 A T 1: 131,226,248 (GRCm39) C22S probably benign Het
Stxbp1 C T 2: 32,709,901 (GRCm39) R64H probably benign Het
Suv39h2 T C 2: 3,473,588 (GRCm39) N114S possibly damaging Het
Tas2r136 T C 6: 132,754,345 (GRCm39) I261V probably benign Het
Trav14-2 A C 14: 53,878,629 (GRCm39) H76P probably damaging Het
Ttc28 T C 5: 111,434,006 (GRCm39) S2316P probably damaging Het
Ubr4 T C 4: 139,216,493 (GRCm39) I5141T unknown Het
Usp46 A G 5: 74,193,015 (GRCm39) V87A probably benign Het
Zfp423 T C 8: 88,508,445 (GRCm39) N612S probably damaging Het
Other mutations in Fbxo39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02828:Fbxo39 APN 11 72,208,041 (GRCm39) missense possibly damaging 0.95
R0281:Fbxo39 UTSW 11 72,208,356 (GRCm39) missense probably benign 0.27
R0479:Fbxo39 UTSW 11 72,208,419 (GRCm39) missense probably damaging 1.00
R0541:Fbxo39 UTSW 11 72,209,297 (GRCm39) missense probably benign 0.00
R0597:Fbxo39 UTSW 11 72,207,747 (GRCm39) missense probably damaging 1.00
R0694:Fbxo39 UTSW 11 72,209,295 (GRCm39) missense probably benign 0.06
R1452:Fbxo39 UTSW 11 72,209,228 (GRCm39) missense probably benign 0.00
R2504:Fbxo39 UTSW 11 72,208,111 (GRCm39) missense probably benign 0.01
R3771:Fbxo39 UTSW 11 72,208,041 (GRCm39) missense possibly damaging 0.49
R7361:Fbxo39 UTSW 11 72,207,800 (GRCm39) missense possibly damaging 0.48
R7911:Fbxo39 UTSW 11 72,208,358 (GRCm39) missense probably damaging 1.00
R8151:Fbxo39 UTSW 11 72,208,526 (GRCm39) missense probably damaging 0.99
R8334:Fbxo39 UTSW 11 72,208,470 (GRCm39) nonsense probably null
R8770:Fbxo39 UTSW 11 72,209,285 (GRCm39) missense probably damaging 0.99
R8997:Fbxo39 UTSW 11 72,208,466 (GRCm39) missense probably damaging 0.97
R9102:Fbxo39 UTSW 11 72,208,316 (GRCm39) missense possibly damaging 0.86
R9333:Fbxo39 UTSW 11 72,208,349 (GRCm39) missense probably damaging 1.00
R9608:Fbxo39 UTSW 11 72,208,101 (GRCm39) missense probably benign 0.00
X0058:Fbxo39 UTSW 11 72,208,227 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACCTTGAGCGAGAACAACG -3'
(R):5'- TAAGGTAGCACGTAGAAGCCC -3'

Sequencing Primer
(F):5'- ACGTTCATGACCCTCACGG -3'
(R):5'- CGTAGAAGCCCAGCCCAG -3'
Posted On 2018-08-29