Incidental Mutation 'R0268:Fbxl17'
ID 35113
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 038494-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R0268 (G1)
Quality Score 198
Status Validated
Chromosome 17
Chromosomal Location 63364447-63807012 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 63692062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]
AlphaFold Q9QZN1
Predicted Effect probably benign
Transcript: ENSMUST00000024761
SMART Domains Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965

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: ENSMUST00000090318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112839
Predicted Effect probably benign
Transcript: ENSMUST00000112840
SMART Domains Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965

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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K 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
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
R0358: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 PCR Primer
(F):5'- AAGGCTAATGGTGGCAATCACCCC -3'
(R):5'- AATGCTCCTGCCCAGCTTTATGAC -3'

Sequencing Primer
(F):5'- CCCCATCATGGCCCATTAC -3'
(R):5'- CCCTTAAAGGGCGACTTTTATAGC -3'
Posted On 2013-05-09