Incidental Mutation 'IGL02084:Fbxo41'
ID283486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo41
Ensembl Gene ENSMUSG00000047013
Gene NameF-box protein 41
SynonymsD6Ertd538e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #IGL02084
Quality Score
Status
Chromosome6
Chromosomal Location85469574-85502994 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 85480765 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159062] [ENSMUST00000159062] [ENSMUST00000159062] [ENSMUST00000161078] [ENSMUST00000161078] [ENSMUST00000161078] [ENSMUST00000161546] [ENSMUST00000161546] [ENSMUST00000161546]
Predicted Effect probably null
Transcript: ENSMUST00000159062
SMART Domains Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159062
SMART Domains Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159062
SMART Domains Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161078
SMART Domains Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161078
SMART Domains Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161078
SMART Domains Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161546
SMART Domains Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 519 540 N/A INTRINSIC
Pfam:F-box-like 554 593 5.6e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161546
SMART Domains Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 519 540 N/A INTRINSIC
Pfam:F-box-like 554 593 5.6e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161546
SMART Domains Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 519 540 N/A INTRINSIC
Pfam:F-box-like 554 593 5.6e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and premature death by 10 weeks, growth retardation, abnormal gait, dragging hindlimbs, ataxia, impaired balance, impaired coordination, tremors and abnormal neuronal migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,130,597 F1096L probably benign Het
Abcd2 T A 15: 91,178,327 probably null Het
Actr10 T C 12: 70,954,649 I210T probably damaging Het
Apoa5 A T 9: 46,270,652 D342V probably damaging Het
Bicra G A 7: 15,987,738 T618I probably benign Het
Birc6 C A 17: 74,608,282 Q1642K probably benign Het
C130060K24Rik T C 6: 65,381,610 V106A probably benign Het
Cenpn A G 8: 116,940,895 Y331C probably damaging Het
Clcn7 T A 17: 25,157,925 I624N probably benign Het
Eddm3b A T 14: 51,116,630 H25L unknown Het
Fam90a1a A G 8: 21,959,297 E19G probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Frem3 A G 8: 80,612,443 D455G possibly damaging Het
Gart T C 16: 91,621,600 Q86R probably benign Het
Gm45234 T C 6: 124,747,695 probably benign Het
Gm5431 C T 11: 48,889,085 D337N probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Kcns3 C T 12: 11,092,194 R168Q probably damaging Het
Klra17 T A 6: 129,831,593 N226Y probably damaging Het
Macf1 T C 4: 123,459,374 D1504G probably damaging Het
Macf1 T C 4: 123,432,603 N2915D probably benign Het
Mgat4d C T 8: 83,368,981 S295L possibly damaging Het
Mslnl T C 17: 25,746,151 V497A probably benign Het
Mtor T C 4: 148,470,680 S920P probably damaging Het
Mynn C A 3: 30,611,615 H465Q probably damaging Het
Myo16 A G 8: 10,361,088 E182G probably damaging Het
Ncln T C 10: 81,488,596 I417V probably benign Het
Nlrp4f A T 13: 65,194,171 C553* probably null Het
Olfr1084 T A 2: 86,639,636 Q24L possibly damaging Het
Olfr177 G A 16: 58,873,036 T38I probably damaging Het
Pkhd1 T C 1: 20,377,399 I2257V probably damaging Het
Ppp4r4 T A 12: 103,600,398 S35T possibly damaging Het
Rnf213 T C 11: 119,445,673 V3291A probably benign Het
Runx2 C T 17: 44,724,829 A173T probably damaging Het
Ryr2 A T 13: 11,792,762 Y833* probably null Het
Setbp1 G A 18: 78,857,410 A1014V probably damaging Het
Slc25a38 A G 9: 120,120,446 probably benign Het
Stk4 A G 2: 164,086,607 T120A probably benign Het
Taf3 A T 2: 10,042,519 V106D probably benign Het
Uchl5 A G 1: 143,802,174 I139V possibly damaging Het
Ung A G 5: 114,130,576 E25G probably benign Het
Wrn A G 8: 33,285,179 V619A probably benign Het
Other mutations in Fbxo41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fbxo41 APN 6 85478102 splice site probably null
IGL00919:Fbxo41 APN 6 85478570 missense probably damaging 1.00
IGL01135:Fbxo41 APN 6 85477908 missense probably benign 0.41
IGL02343:Fbxo41 APN 6 85478171 missense possibly damaging 0.78
IGL03284:Fbxo41 APN 6 85479765 missense probably damaging 1.00
R0116:Fbxo41 UTSW 6 85477908 missense probably damaging 1.00
R0452:Fbxo41 UTSW 6 85478182 missense probably damaging 1.00
R2064:Fbxo41 UTSW 6 85478471 nonsense probably null
R2065:Fbxo41 UTSW 6 85478471 nonsense probably null
R2067:Fbxo41 UTSW 6 85478471 nonsense probably null
R3433:Fbxo41 UTSW 6 85477631 missense probably damaging 1.00
R3522:Fbxo41 UTSW 6 85484181 missense probably benign 0.00
R4086:Fbxo41 UTSW 6 85478546 missense possibly damaging 0.93
R4520:Fbxo41 UTSW 6 85484042 missense probably damaging 1.00
R4521:Fbxo41 UTSW 6 85484042 missense probably damaging 1.00
R4522:Fbxo41 UTSW 6 85484042 missense probably damaging 1.00
R4523:Fbxo41 UTSW 6 85484042 missense probably damaging 1.00
R4524:Fbxo41 UTSW 6 85484042 missense probably damaging 1.00
R4867:Fbxo41 UTSW 6 85475194 missense probably benign
R4970:Fbxo41 UTSW 6 85477924 missense probably damaging 1.00
R5000:Fbxo41 UTSW 6 85483919 missense probably damaging 0.98
R5112:Fbxo41 UTSW 6 85477924 missense probably damaging 1.00
R5330:Fbxo41 UTSW 6 85479906 missense probably benign
R5331:Fbxo41 UTSW 6 85479906 missense probably benign
R5334:Fbxo41 UTSW 6 85478483 missense probably damaging 1.00
R5595:Fbxo41 UTSW 6 85479901 missense probably benign 0.00
R5632:Fbxo41 UTSW 6 85484504 missense probably damaging 1.00
R5698:Fbxo41 UTSW 6 85477656 missense possibly damaging 0.88
R5801:Fbxo41 UTSW 6 85484533 missense probably damaging 0.97
R5854:Fbxo41 UTSW 6 85475094 missense probably damaging 1.00
R6258:Fbxo41 UTSW 6 85478555 missense probably damaging 1.00
R6260:Fbxo41 UTSW 6 85478555 missense probably damaging 1.00
R6615:Fbxo41 UTSW 6 85478523 missense possibly damaging 0.60
R7061:Fbxo41 UTSW 6 85475466 missense probably benign 0.36
R7353:Fbxo41 UTSW 6 85479976 missense possibly damaging 0.71
R7681:Fbxo41 UTSW 6 85478479 nonsense probably null
R8077:Fbxo41 UTSW 6 85473229 missense probably damaging 0.98
R8801:Fbxo41 UTSW 6 85484681 missense probably damaging 1.00
X0024:Fbxo41 UTSW 6 85478470 missense probably damaging 1.00
Posted On2015-04-16