Incidental Mutation 'R0358:Fbxl17'
ID 65642
Institutional Source Beutler Lab
Gene Symbol Fbxl17
Ensembl Gene ENSMUSG00000023965
Gene Name F-box and leucine-rich repeat protein 17
Synonyms 6330576B01Rik, C130023C01Rik, Fbxo13, Fbx13
MMRRC Submission 038564-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R0358 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 63364447-63807012 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63663846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 67 (R67C)
Ref Sequence ENSEMBL: ENSMUSP00000108459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]
AlphaFold Q9QZN1
Predicted Effect probably benign
Transcript: ENSMUST00000024761
AA Change: R548C

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: R548C

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
low complexity region 76 89 N/A INTRINSIC
low complexity region 103 138 N/A INTRINSIC
low complexity region 180 193 N/A INTRINSIC
low complexity region 214 245 N/A INTRINSIC
low complexity region 246 270 N/A INTRINSIC
FBOX 324 365 3.1e-8 SMART
LRR 359 384 4.6e-1 SMART
LRR 385 410 2e-1 SMART
LRR 411 436 8.5e-2 SMART
LRR 437 462 6.9e-4 SMART
LRR 463 488 1.3e-5 SMART
LRR 489 514 5.2e-2 SMART
LRR 515 539 2.9e-3 SMART
LRR 540 564 2e-1 SMART
low complexity region 567 580 N/A INTRINSIC
LRR 591 615 8.4e-4 SMART
LRR 616 641 2.2e-1 SMART
LRR 642 667 6.3e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112839
Predicted Effect probably damaging
Transcript: ENSMUST00000112840
AA Change: R67C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: R67C

DomainStartEndE-ValueType
LRR 8 33 1.2e1 SMART
LRR 34 58 6.57e-1 SMART
LRR 59 83 4.67e1 SMART
low complexity region 86 99 N/A INTRINSIC
LRR 110 134 1.89e-1 SMART
LRR 135 160 5.25e1 SMART
LRR 161 186 1.47e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169134
Meta Mutation Damage Score 0.4300 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.5%
Validation Efficiency 100% (64/64)
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 FBXL17, 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G A 17: 79,935,585 (GRCm39) probably benign Het
Abca16 A T 7: 120,143,939 (GRCm39) K1651N probably benign Het
Abcb1b T C 5: 8,871,423 (GRCm39) S326P probably benign Het
Ache A G 5: 137,288,635 (GRCm39) T114A probably benign Het
Akap3 T A 6: 126,843,775 (GRCm39) V798D probably damaging Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Aqp4 T C 18: 15,531,302 (GRCm39) N153S probably benign Het
Arhgap23 G A 11: 97,354,414 (GRCm39) V265M probably damaging Het
Arhgef25 A T 10: 127,020,322 (GRCm39) M326K probably damaging Het
Atp6v1c2 T C 12: 17,334,961 (GRCm39) probably benign Het
Cars1 A T 7: 143,142,219 (GRCm39) probably benign Het
Cep83 A T 10: 94,555,593 (GRCm39) M96L probably benign Het
Cfap46 A G 7: 139,231,449 (GRCm39) probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cul7 G A 17: 46,974,670 (GRCm39) probably null Het
Dhrs2 G A 14: 55,473,574 (GRCm39) V78M probably damaging Het
Dhx38 A T 8: 110,279,094 (GRCm39) D1051E probably benign Het
Eftud2 A G 11: 102,755,627 (GRCm39) probably benign Het
Egln3 T C 12: 54,250,082 (GRCm39) E89G possibly damaging Het
Eif2ak4 A G 2: 118,294,410 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,677 (GRCm39) N3332I possibly damaging Het
Gbp2b A T 3: 142,312,550 (GRCm39) E311V probably damaging Het
Gcnt2 G T 13: 41,014,329 (GRCm39) A167S probably damaging Het
Gm9797 A T 10: 11,485,088 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,215 (GRCm39) probably null Het
Gpr22 T C 12: 31,759,981 (GRCm39) N47S probably benign Het
Il18rap A T 1: 40,588,202 (GRCm39) H600L possibly damaging Het
Larp7 A G 3: 127,340,737 (GRCm39) probably null Het
Mep1a A G 17: 43,789,841 (GRCm39) Y490H possibly damaging Het
Mrgprh T A 17: 13,096,237 (GRCm39) V159D probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nrbp1 T A 5: 31,402,231 (GRCm39) I64N probably damaging Het
Nup214 G A 2: 31,894,312 (GRCm39) probably null Het
Or10d1b A G 9: 39,613,297 (GRCm39) I256T possibly damaging Het
Or13a21 G T 7: 139,998,856 (GRCm39) L277M probably damaging Het
Or2o1 T A 11: 49,051,071 (GRCm39) C77S probably benign Het
Or4k15b A T 14: 50,272,743 (GRCm39) L39Q probably damaging Het
Pef1 A G 4: 130,021,180 (GRCm39) T245A probably damaging Het
Phrf1 A G 7: 140,838,217 (GRCm39) probably benign Het
Ppig A G 2: 69,573,942 (GRCm39) probably benign Het
Ppp1r8 G T 4: 132,562,039 (GRCm39) F60L probably damaging Het
Psmd11 G A 11: 80,353,510 (GRCm39) probably benign Het
Ptk6 G T 2: 180,840,315 (GRCm39) H230Q probably benign Het
Ptprd T C 4: 75,863,226 (GRCm39) Y1496C probably damaging Het
Rhbdl3 G T 11: 80,244,457 (GRCm39) W388L probably damaging Het
Rnf130 T A 11: 49,962,109 (GRCm39) M185K probably benign Het
S100a13 A T 3: 90,423,299 (GRCm39) I97F probably damaging Het
Slc22a16 T G 10: 40,463,488 (GRCm39) probably null Het
Tcte1 A T 17: 45,846,211 (GRCm39) T272S probably benign Het
Terf1 T C 1: 15,876,062 (GRCm39) V54A possibly damaging Het
Tmem63a T A 1: 180,783,988 (GRCm39) N189K probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Trpv4 A G 5: 114,768,493 (GRCm39) F525S probably damaging Het
Ttll7 A G 3: 146,649,871 (GRCm39) T634A probably benign Het
Tut7 T C 13: 59,929,918 (GRCm39) D47G probably damaging Het
Ush2a T G 1: 188,269,977 (GRCm39) N1741K possibly damaging Het
Wdr87-ps A T 7: 29,231,636 (GRCm39) noncoding transcript Het
Zfp451 T A 1: 33,816,810 (GRCm39) H163L probably damaging Het
Other mutations in Fbxl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Fbxl17 APN 17 63,692,047 (GRCm39) missense probably damaging 1.00
IGL02201:Fbxl17 APN 17 63,806,024 (GRCm39) missense probably damaging 1.00
IGL02256:Fbxl17 APN 17 63,806,085 (GRCm39) missense probably benign
IGL03408:Fbxl17 APN 17 63,387,541 (GRCm39) nonsense probably null
R0268:Fbxl17 UTSW 17 63,692,062 (GRCm39) splice site probably benign
R0269:Fbxl17 UTSW 17 63,691,987 (GRCm39) missense probably damaging 0.99
R0313:Fbxl17 UTSW 17 63,663,846 (GRCm39) missense probably damaging 1.00
R0315:Fbxl17 UTSW 17 63,663,846 (GRCm39) missense probably damaging 1.00
R0344:Fbxl17 UTSW 17 63,692,062 (GRCm39) splice site probably benign
R0356:Fbxl17 UTSW 17 63,663,846 (GRCm39) missense probably damaging 1.00
R0553:Fbxl17 UTSW 17 63,663,846 (GRCm39) missense probably damaging 1.00
R0617:Fbxl17 UTSW 17 63,691,987 (GRCm39) missense probably damaging 0.99
R0629:Fbxl17 UTSW 17 63,778,409 (GRCm39) missense probably damaging 1.00
R1597:Fbxl17 UTSW 17 63,794,813 (GRCm39) missense probably damaging 1.00
R1666:Fbxl17 UTSW 17 63,692,060 (GRCm39) splice site probably null
R3001:Fbxl17 UTSW 17 63,532,072 (GRCm39) missense probably damaging 0.99
R3002:Fbxl17 UTSW 17 63,532,072 (GRCm39) missense probably damaging 0.99
R3121:Fbxl17 UTSW 17 63,778,419 (GRCm39) missense probably damaging 0.96
R3909:Fbxl17 UTSW 17 63,806,802 (GRCm39) missense possibly damaging 0.93
R4789:Fbxl17 UTSW 17 63,794,910 (GRCm39) missense probably benign 0.40
R6606:Fbxl17 UTSW 17 63,794,783 (GRCm39) missense probably damaging 0.97
R7153:Fbxl17 UTSW 17 63,367,346 (GRCm39) missense probably benign 0.09
R7722:Fbxl17 UTSW 17 63,663,823 (GRCm39) missense probably damaging 0.99
R7794:Fbxl17 UTSW 17 63,663,806 (GRCm39) missense probably damaging 0.97
R7841:Fbxl17 UTSW 17 63,794,820 (GRCm39) missense probably damaging 1.00
R8076:Fbxl17 UTSW 17 63,367,360 (GRCm39) missense probably damaging 0.99
R8178:Fbxl17 UTSW 17 63,794,967 (GRCm39) splice site probably null
R8338:Fbxl17 UTSW 17 63,663,753 (GRCm39) missense possibly damaging 0.93
R8873:Fbxl17 UTSW 17 63,691,971 (GRCm39) missense probably damaging 0.99
R9113:Fbxl17 UTSW 17 63,532,085 (GRCm39) missense probably benign 0.09
R9431:Fbxl17 UTSW 17 63,387,489 (GRCm39) missense probably damaging 1.00
R9444:Fbxl17 UTSW 17 63,778,455 (GRCm39) missense probably damaging 0.98
R9581:Fbxl17 UTSW 17 63,806,525 (GRCm39) missense probably benign
R9660:Fbxl17 UTSW 17 63,806,426 (GRCm39) missense probably benign 0.00
R9756:Fbxl17 UTSW 17 63,367,310 (GRCm39) missense probably damaging 0.98
X0019:Fbxl17 UTSW 17 63,367,378 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-08