Incidental Mutation 'R4789:Fbxl17'
ID 367362
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 63364447-63807012 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63794910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 391 (I391L)
Ref Sequence ENSEMBL: ENSMUSP00000024761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]
AlphaFold Q9QZN1
Predicted Effect probably benign
Transcript: ENSMUST00000024761
AA Change: I391L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: I391L

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 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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N 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
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
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'- TGCCTACGTGGACTTTCTG -3'
(R):5'- TCTGACACTCGGAAGGTTCC -3'

Sequencing Primer
(F):5'- CCTACGTGGACTTTCTGCAGTAAAG -3'
(R):5'- AGGGTTTTAGAAAGTTTATACAGCAG -3'
Posted On 2015-12-29