Incidental Mutation 'R3909:Fbxl17'
ID 309319
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 040814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R3909 (G1)
Quality Score 95
Status Validated
Chromosome 17
Chromosomal Location 63364447-63807012 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63806802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 71 (P71S)
Ref Sequence ENSEMBL: ENSMUSP00000024761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024761]
AlphaFold Q9QZN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000024761
AA Change: P71S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: P71S

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
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Cngb3 G A 4: 19,461,679 (GRCm39) C520Y probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Hyls1 T C 9: 35,472,705 (GRCm39) D237G probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or4a78 T C 2: 89,497,357 (GRCm39) E291G probably damaging Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L probably benign 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
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'- CGCTTGCAAACCATCTCGAG -3'
(R):5'- ATATGGGCCACCTTCTCTCGAAG -3'

Sequencing Primer
(F):5'- AAACCATCTCGAGGGCCGTG -3'
(R):5'- TCTCGAAGGAGCCGCGTAAC -3'
Posted On 2015-04-17