Incidental Mutation 'R1331:Fbxo24'
ID 156187
Institutional Source Beutler Lab
Gene Symbol Fbxo24
Ensembl Gene ENSMUSG00000089984
Gene Name F-box protein 24
Synonyms 4933422D21Rik, Fbx24
MMRRC Submission 039396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1331 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137610767-137623340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137617891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000031732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031732] [ENSMUST00000111002] [ENSMUST00000136028]
AlphaFold Q9D417
Predicted Effect probably damaging
Transcript: ENSMUST00000031732
AA Change: V291A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: V291A

DomainStartEndE-ValueType
FBOX 29 69 1.48e-7 SMART
Pfam:RCC1 386 432 2.2e-10 PFAM
low complexity region 442 455 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111002
AA Change: V174A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: V174A

DomainStartEndE-ValueType
Pfam:RCC1 247 293 4.2e-11 PFAM
low complexity region 303 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117679
Predicted Effect probably benign
Transcript: ENSMUST00000136028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196660
Meta Mutation Damage Score 0.3216 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 93.0%
Validation Efficiency 100% (59/59)
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,773,202 (GRCm39) probably null Het
Acat1 T C 9: 53,496,183 (GRCm39) D318G probably benign Het
Ahdc1 T C 4: 132,791,002 (GRCm39) F748L probably benign Het
Alkbh8 T A 9: 3,347,916 (GRCm39) probably null Het
Arhgef26 A G 3: 62,247,449 (GRCm39) T178A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc180 T C 4: 45,909,359 (GRCm39) V509A possibly damaging Het
Ccdc39 T C 3: 33,869,634 (GRCm39) E731G probably benign Het
Cenpf A G 1: 189,374,998 (GRCm39) V2931A probably damaging Het
Cobl A T 11: 12,325,853 (GRCm39) N207K probably damaging Het
Col14a1 T A 15: 55,273,584 (GRCm39) W718R unknown Het
Dnah7a A G 1: 53,507,828 (GRCm39) I3081T probably damaging Het
Dync1h1 T C 12: 110,615,698 (GRCm39) V2977A probably damaging Het
Ephb4 A G 5: 137,364,796 (GRCm39) probably benign Het
Eri3 T C 4: 117,422,104 (GRCm39) probably benign Het
Glra1 A C 11: 55,405,896 (GRCm39) S282A probably benign Het
Gm7589 C A 9: 59,053,325 (GRCm39) noncoding transcript Het
H6pd T C 4: 150,066,872 (GRCm39) N505D probably benign Het
Hdlbp T A 1: 93,348,853 (GRCm39) N566Y probably damaging Het
Hsp90aa1 C A 12: 110,659,254 (GRCm39) K514N probably damaging Het
Impdh1 A T 6: 29,206,477 (GRCm39) V120D probably damaging Het
Katnip A G 7: 125,465,627 (GRCm39) T1360A probably benign Het
Loxhd1 C T 18: 77,490,632 (GRCm39) P1411S possibly damaging Het
Lpl A G 8: 69,349,281 (GRCm39) E269G probably damaging Het
Map1a G T 2: 121,136,701 (GRCm39) E2268* probably null Het
Mark1 T C 1: 184,660,245 (GRCm39) E137G probably damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Mogat2 T C 7: 98,872,722 (GRCm39) Y154C possibly damaging Het
Myo18a C G 11: 77,732,405 (GRCm39) I859M probably benign Het
Myo7a A G 7: 97,756,215 (GRCm39) V39A probably benign Het
Nedd4 T A 9: 72,584,668 (GRCm39) I123N probably damaging Het
Obscn A G 11: 58,977,754 (GRCm39) V1966A probably benign Het
Or7g33 T C 9: 19,448,842 (GRCm39) N128S probably benign Het
Orc3 T G 4: 34,599,748 (GRCm39) N77T probably benign Het
Penk A G 4: 4,134,287 (GRCm39) M120T probably benign Het
Phf7 G A 14: 30,962,362 (GRCm39) Q148* probably null Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pkhd1l1 C T 15: 44,452,993 (GRCm39) R3973C probably damaging Het
Polq C T 16: 36,862,109 (GRCm39) T264M probably damaging Het
Ptprb A T 10: 116,203,437 (GRCm39) T2070S probably damaging Het
Ralgapb T C 2: 158,272,453 (GRCm39) F169S probably damaging Het
Rapgef5 G T 12: 117,685,084 (GRCm39) A278S probably benign Het
Ripor2 G T 13: 24,861,824 (GRCm39) E203* probably null Het
Setx T C 2: 29,069,698 (GRCm39) L2501P probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,276,689 (GRCm39) V56D probably damaging Het
Slc45a4 C T 15: 73,458,596 (GRCm39) D326N probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat4 T A 1: 52,053,086 (GRCm39) V89D probably benign Het
Tek T A 4: 94,627,943 (GRCm39) probably benign Het
Tert T A 13: 73,796,473 (GRCm39) F1068Y probably damaging Het
Trim33 T A 3: 103,217,670 (GRCm39) I205K probably damaging Het
Vmn1r212 A T 13: 23,067,562 (GRCm39) I257K probably benign Het
Other mutations in Fbxo24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Fbxo24 APN 5 137,622,563 (GRCm39) missense probably damaging 1.00
IGL01872:Fbxo24 APN 5 137,611,987 (GRCm39) missense probably damaging 1.00
IGL02066:Fbxo24 APN 5 137,611,132 (GRCm39) missense probably damaging 1.00
IGL02078:Fbxo24 APN 5 137,622,611 (GRCm39) missense probably damaging 1.00
IGL02330:Fbxo24 APN 5 137,619,579 (GRCm39) missense probably damaging 1.00
PIT4131001:Fbxo24 UTSW 5 137,620,164 (GRCm39) missense probably damaging 1.00
R0012:Fbxo24 UTSW 5 137,620,256 (GRCm39) missense probably damaging 1.00
R0012:Fbxo24 UTSW 5 137,620,256 (GRCm39) missense probably damaging 1.00
R0243:Fbxo24 UTSW 5 137,622,819 (GRCm39) missense probably damaging 0.98
R0990:Fbxo24 UTSW 5 137,616,701 (GRCm39) missense probably damaging 0.99
R2139:Fbxo24 UTSW 5 137,611,327 (GRCm39) missense probably damaging 0.99
R5483:Fbxo24 UTSW 5 137,617,002 (GRCm39) missense probably damaging 0.99
R5487:Fbxo24 UTSW 5 137,617,094 (GRCm39) missense possibly damaging 0.88
R5954:Fbxo24 UTSW 5 137,617,943 (GRCm39) missense probably damaging 1.00
R5974:Fbxo24 UTSW 5 137,617,912 (GRCm39) missense probably benign 0.12
R6250:Fbxo24 UTSW 5 137,619,543 (GRCm39) missense probably damaging 1.00
R6600:Fbxo24 UTSW 5 137,611,135 (GRCm39) missense probably damaging 1.00
R7345:Fbxo24 UTSW 5 137,619,523 (GRCm39) missense probably damaging 0.99
R7412:Fbxo24 UTSW 5 137,617,885 (GRCm39) missense possibly damaging 0.48
R8017:Fbxo24 UTSW 5 137,611,073 (GRCm39) missense probably benign
R8775:Fbxo24 UTSW 5 137,611,213 (GRCm39) missense possibly damaging 0.62
R8775-TAIL:Fbxo24 UTSW 5 137,611,213 (GRCm39) missense possibly damaging 0.62
R9135:Fbxo24 UTSW 5 137,622,526 (GRCm39) missense probably benign 0.12
R9357:Fbxo24 UTSW 5 137,611,096 (GRCm39) missense probably damaging 0.98
X0064:Fbxo24 UTSW 5 137,619,498 (GRCm39) missense probably damaging 1.00
Z1176:Fbxo24 UTSW 5 137,619,665 (GRCm39) missense probably damaging 1.00
Z1177:Fbxo24 UTSW 5 137,619,561 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCAGACTGGCTTTCCTACAAGT -3'
(R):5'- CAGCGTTTCTGTTGAGTGTCCCAT -3'

Sequencing Primer
(F):5'- GCTTTCCTACAAGTTTACAGGGAC -3'
(R):5'- CATGGGATGTTTATCTGGCTATTG -3'
Posted On 2014-02-11