Incidental Mutation 'IGL00419:Fbxo24'
ID5517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo24
Ensembl Gene ENSMUSG00000089984
Gene NameF-box protein 24
Synonyms4933422D21Rik, Fbx24
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00419
Quality Score
Status
Chromosome5
Chromosomal Location137612503-137629002 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 137624301 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 68 (R68C)
Ref Sequence ENSEMBL: ENSMUSP00000031732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031732] [ENSMUST00000031734] [ENSMUST00000111002] [ENSMUST00000136028] [ENSMUST00000176011] [ENSMUST00000176667] [ENSMUST00000177477] [ENSMUST00000177545]
Predicted Effect probably damaging
Transcript: ENSMUST00000031732
AA Change: R68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: R68C

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 probably benign
Transcript: ENSMUST00000031734
SMART Domains Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111002
SMART Domains Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984

DomainStartEndE-ValueType
Pfam:RCC1 247 293 4.2e-11 PFAM
low complexity region 303 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136028
Predicted Effect probably benign
Transcript: ENSMUST00000176011
SMART Domains Protein: ENSMUSP00000135133
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176667
SMART Domains Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 648 4.73e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176988
Predicted Effect probably benign
Transcript: ENSMUST00000177477
SMART Domains Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177545
SMART Domains Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,239,806 N586K probably damaging Het
AU040320 T C 4: 126,792,234 M201T probably benign Het
Bcap29 A T 12: 31,630,872 F38L probably benign Het
Bdkrb2 A G 12: 105,588,303 probably benign Het
Ceacam5 G T 7: 17,759,556 E835* probably null Het
Cenpp T C 13: 49,647,656 probably null Het
Clca2 A G 3: 145,098,813 V51A probably damaging Het
Dmxl2 T C 9: 54,406,667 N1660D probably damaging Het
Exosc9 T C 3: 36,553,139 probably benign Het
Ezh1 T C 11: 101,194,506 probably null Het
Gbp9 T C 5: 105,094,077 I205V probably benign Het
Gpc5 A G 14: 115,370,024 Y346C probably damaging Het
Hectd1 A G 12: 51,764,035 Y1706H probably damaging Het
Igsf9b A G 9: 27,319,655 Y318C probably damaging Het
Map1a A T 2: 121,299,027 Q182L probably damaging Het
Rab11fip3 A T 17: 25,991,809 probably benign Het
Rbm20 G A 19: 53,843,264 R643Q probably damaging Het
Ros1 A T 10: 52,091,054 C1707S probably damaging Het
Rpgrip1l G T 8: 91,263,574 R747S possibly damaging Het
Rsph10b T C 5: 143,937,087 *166R probably null Het
Sft2d1 G A 17: 8,320,605 C80Y possibly damaging Het
Zdhhc14 T C 17: 5,752,684 probably benign Het
Zfp300 T A X: 21,082,292 Y411F probably damaging Het
Zfp92 T C X: 73,420,158 probably benign Het
Zhx1 A G 15: 58,053,315 F512L probably damaging Het
Other mutations in Fbxo24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Fbxo24 APN 5 137613725 missense probably damaging 1.00
IGL02066:Fbxo24 APN 5 137612870 missense probably damaging 1.00
IGL02078:Fbxo24 APN 5 137624349 missense probably damaging 1.00
IGL02330:Fbxo24 APN 5 137621317 missense probably damaging 1.00
PIT4131001:Fbxo24 UTSW 5 137621902 missense probably damaging 1.00
R0012:Fbxo24 UTSW 5 137621994 missense probably damaging 1.00
R0012:Fbxo24 UTSW 5 137621994 missense probably damaging 1.00
R0243:Fbxo24 UTSW 5 137624557 missense probably damaging 0.98
R0990:Fbxo24 UTSW 5 137618439 missense probably damaging 0.99
R1331:Fbxo24 UTSW 5 137619629 missense probably damaging 1.00
R2139:Fbxo24 UTSW 5 137613065 missense probably damaging 0.99
R5483:Fbxo24 UTSW 5 137618740 missense probably damaging 0.99
R5487:Fbxo24 UTSW 5 137618832 missense possibly damaging 0.88
R5954:Fbxo24 UTSW 5 137619681 missense probably damaging 1.00
R5974:Fbxo24 UTSW 5 137619650 missense probably benign 0.12
R6250:Fbxo24 UTSW 5 137621281 missense probably damaging 1.00
R6600:Fbxo24 UTSW 5 137612873 missense probably damaging 1.00
R7345:Fbxo24 UTSW 5 137621261 missense probably damaging 0.99
R7412:Fbxo24 UTSW 5 137619623 missense possibly damaging 0.48
R8017:Fbxo24 UTSW 5 137612811 missense probably benign
X0064:Fbxo24 UTSW 5 137621236 missense probably damaging 1.00
Z1176:Fbxo24 UTSW 5 137621403 missense probably damaging 1.00
Z1177:Fbxo24 UTSW 5 137621299 missense probably damaging 0.99
Posted On2012-04-20