Incidental Mutation 'IGL01420:Fbxl17'
ID 80406
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01420
Quality Score
Status
Chromosome 17
Chromosomal Location 63364447-63807012 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63692047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 22 (V22M)
Ref Sequence ENSEMBL: ENSMUSP00000108459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]
AlphaFold Q9QZN1
Predicted Effect probably damaging
Transcript: ENSMUST00000024761
AA Change: V503M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: V503M

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 damaging
Transcript: ENSMUST00000112840
AA Change: V22M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: V22M

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,637 (GRCm39) probably benign Het
Actr6 A T 10: 89,561,027 (GRCm39) probably benign Het
Adamts3 A T 5: 89,850,916 (GRCm39) M541K possibly damaging Het
Adgre4 T C 17: 56,106,785 (GRCm39) probably benign Het
Anxa6 T C 11: 54,883,189 (GRCm39) Y481C probably damaging Het
Apbb1ip A T 2: 22,748,292 (GRCm39) I371F possibly damaging Het
Arhgef10l T C 4: 140,297,649 (GRCm39) D261G probably damaging Het
Bche T C 3: 73,609,342 (GRCm39) H28R probably benign Het
C2cd3 T C 7: 100,104,065 (GRCm39) V2026A probably benign Het
Cacna1d C T 14: 29,773,595 (GRCm39) V1697I probably benign Het
Celsr2 T C 3: 108,301,079 (GRCm39) H2738R probably benign Het
Celsr3 A G 9: 108,718,389 (GRCm39) probably null Het
Cep152 A T 2: 125,405,572 (GRCm39) D1653E possibly damaging Het
Cfap57 T A 4: 118,470,137 (GRCm39) I248F probably benign Het
Clcnka C A 4: 141,116,643 (GRCm39) R536L probably benign Het
Dao T A 5: 114,161,881 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,175,367 (GRCm39) S585P possibly damaging Het
Dysf C T 6: 84,126,741 (GRCm39) Q1333* probably null Het
Eps8l2 T A 7: 140,937,576 (GRCm39) S397T probably benign Het
Fap A G 2: 62,334,846 (GRCm39) probably benign Het
Fbf1 T C 11: 116,036,822 (GRCm39) T971A probably benign Het
Fcgbpl1 T A 7: 27,839,558 (GRCm39) M457K probably benign Het
Fundc2 T C X: 74,434,471 (GRCm39) probably benign Het
Heyl C A 4: 123,133,967 (GRCm39) Q42K probably damaging Het
Hyal4 A G 6: 24,755,871 (GRCm39) K30E probably benign Het
Igsf10 T C 3: 59,227,071 (GRCm39) I2201V probably benign Het
Il34 T C 8: 111,469,345 (GRCm39) K157E probably damaging Het
Kcnj13 T C 1: 87,316,766 (GRCm39) T116A probably damaging Het
Lpl T C 8: 69,340,085 (GRCm39) probably benign Het
Mcm6 A G 1: 128,273,612 (GRCm39) L406P probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Nadk2 T C 15: 9,103,072 (GRCm39) S308P probably damaging Het
Nae1 G T 8: 105,249,797 (GRCm39) Q225K probably benign Het
Ncoa6 G A 2: 155,249,507 (GRCm39) P1266S probably damaging Het
Neb A G 2: 52,047,389 (GRCm39) Y6485H probably damaging Het
Nin G A 12: 70,092,188 (GRCm39) A707V probably benign Het
Nmur1 T C 1: 86,315,113 (GRCm39) T218A probably benign Het
Npr3 T C 15: 11,858,718 (GRCm39) N135D probably damaging Het
Nup107 A T 10: 117,620,926 (GRCm39) L142Q probably damaging Het
Pdgfc T A 3: 81,048,750 (GRCm39) S53T probably benign Het
Plxdc2 T A 2: 16,654,950 (GRCm39) V232D probably damaging Het
Pou2f2 T C 7: 24,792,377 (GRCm39) N493D possibly damaging Het
Rtel1 T C 2: 180,996,194 (GRCm39) I750T probably benign Het
Sbk1 A G 7: 125,891,184 (GRCm39) probably null Het
Sec24d A G 3: 123,143,658 (GRCm39) N603S probably benign Het
Slc38a10 T A 11: 119,997,286 (GRCm39) E736V probably damaging Het
Smc6 A G 12: 11,341,659 (GRCm39) Y559C probably benign Het
Sprr4 A T 3: 92,407,691 (GRCm39) V37E unknown Het
Sptbn2 A G 19: 4,784,153 (GRCm39) T632A probably benign Het
Trim31 A G 17: 37,209,303 (GRCm39) M20V probably benign Het
Trim65 C A 11: 116,017,335 (GRCm39) V376L probably damaging Het
Ttn T C 2: 76,542,420 (GRCm39) D25195G probably damaging Het
Tysnd1 A G 10: 61,537,830 (GRCm39) T503A possibly damaging Het
Vtn A T 11: 78,390,200 (GRCm39) I9L probably benign Het
Zfp398 A G 6: 47,842,868 (GRCm39) M175V probably benign Het
Other mutations in Fbxl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05