Incidental Mutation 'IGL02084:Fbxo41'
ID 283486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo41
Ensembl Gene ENSMUSG00000047013
Gene Name F-box protein 41
Synonyms D6Ertd538e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # IGL02084
Quality Score
Status
Chromosome 6
Chromosomal Location 85446556-85479976 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 85457747 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6NS60
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: 110,021,423 (GRCm39) F1096L probably benign Het
Abcd2 T A 15: 91,062,530 (GRCm39) probably null Het
Actr10 T C 12: 71,001,423 (GRCm39) I210T probably damaging Het
Apoa5 A T 9: 46,181,950 (GRCm39) D342V probably damaging Het
Bicra G A 7: 15,721,663 (GRCm39) T618I probably benign Het
Birc6 C A 17: 74,915,277 (GRCm39) Q1642K probably benign Het
Cenpn A G 8: 117,667,634 (GRCm39) Y331C probably damaging Het
Clcn7 T A 17: 25,376,899 (GRCm39) I624N probably benign Het
Eddm3b A T 14: 51,354,087 (GRCm39) H25L unknown Het
Fam90a1a A G 8: 22,449,313 (GRCm39) E19G probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Frem3 A G 8: 81,339,072 (GRCm39) D455G possibly damaging Het
Gart T C 16: 91,418,488 (GRCm39) Q86R probably benign Het
Gm45234 T C 6: 124,724,658 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,912 (GRCm39) D337N probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Kcns3 C T 12: 11,142,195 (GRCm39) R168Q probably damaging Het
Klra17 T A 6: 129,808,556 (GRCm39) N226Y probably damaging Het
Macf1 T C 4: 123,326,396 (GRCm39) N2915D probably benign Het
Macf1 T C 4: 123,353,167 (GRCm39) D1504G probably damaging Het
Mgat4d C T 8: 84,095,610 (GRCm39) S295L possibly damaging Het
Mslnl T C 17: 25,965,125 (GRCm39) V497A probably benign Het
Mtor T C 4: 148,555,137 (GRCm39) S920P probably damaging Het
Mynn C A 3: 30,665,764 (GRCm39) H465Q probably damaging Het
Myo16 A G 8: 10,411,088 (GRCm39) E182G probably damaging Het
Ncln T C 10: 81,324,430 (GRCm39) I417V probably benign Het
Nlrp4f A T 13: 65,341,985 (GRCm39) C553* probably null Het
Or5k14 G A 16: 58,693,399 (GRCm39) T38I probably damaging Het
Or8k37 T A 2: 86,469,980 (GRCm39) Q24L possibly damaging Het
Pkhd1 T C 1: 20,447,623 (GRCm39) I2257V probably damaging Het
Ppp4r4 T A 12: 103,566,657 (GRCm39) S35T possibly damaging Het
Qrfprl T C 6: 65,358,594 (GRCm39) V106A probably benign Het
Rnf213 T C 11: 119,336,499 (GRCm39) V3291A probably benign Het
Runx2 C T 17: 45,035,716 (GRCm39) A173T probably damaging Het
Ryr2 A T 13: 11,807,648 (GRCm39) Y833* probably null Het
Setbp1 G A 18: 78,900,625 (GRCm39) A1014V probably damaging Het
Slc25a38 A G 9: 119,949,512 (GRCm39) probably benign Het
Stk4 A G 2: 163,928,527 (GRCm39) T120A probably benign Het
Taf3 A T 2: 10,047,330 (GRCm39) V106D probably benign Het
Uchl5 A G 1: 143,677,912 (GRCm39) I139V possibly damaging Het
Ung A G 5: 114,268,637 (GRCm39) E25G probably benign Het
Wrn A G 8: 33,775,207 (GRCm39) V619A probably benign Het
Other mutations in Fbxo41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fbxo41 APN 6 85,455,084 (GRCm39) splice site probably null
IGL00919:Fbxo41 APN 6 85,455,552 (GRCm39) missense probably damaging 1.00
IGL01135:Fbxo41 APN 6 85,454,890 (GRCm39) missense probably benign 0.41
IGL02343:Fbxo41 APN 6 85,455,153 (GRCm39) missense possibly damaging 0.78
IGL03284:Fbxo41 APN 6 85,456,747 (GRCm39) missense probably damaging 1.00
R0116:Fbxo41 UTSW 6 85,454,890 (GRCm39) missense probably damaging 1.00
R0452:Fbxo41 UTSW 6 85,455,164 (GRCm39) missense probably damaging 1.00
R2064:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R2065:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R2067:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R3433:Fbxo41 UTSW 6 85,454,613 (GRCm39) missense probably damaging 1.00
R3522:Fbxo41 UTSW 6 85,461,163 (GRCm39) missense probably benign 0.00
R4086:Fbxo41 UTSW 6 85,455,528 (GRCm39) missense possibly damaging 0.93
R4520:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4521:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4522:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4523:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4524:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4867:Fbxo41 UTSW 6 85,452,176 (GRCm39) missense probably benign
R4970:Fbxo41 UTSW 6 85,454,906 (GRCm39) missense probably damaging 1.00
R5000:Fbxo41 UTSW 6 85,460,901 (GRCm39) missense probably damaging 0.98
R5112:Fbxo41 UTSW 6 85,454,906 (GRCm39) missense probably damaging 1.00
R5330:Fbxo41 UTSW 6 85,456,888 (GRCm39) missense probably benign
R5331:Fbxo41 UTSW 6 85,456,888 (GRCm39) missense probably benign
R5334:Fbxo41 UTSW 6 85,455,465 (GRCm39) missense probably damaging 1.00
R5595:Fbxo41 UTSW 6 85,456,883 (GRCm39) missense probably benign 0.00
R5632:Fbxo41 UTSW 6 85,461,486 (GRCm39) missense probably damaging 1.00
R5698:Fbxo41 UTSW 6 85,454,638 (GRCm39) missense possibly damaging 0.88
R5801:Fbxo41 UTSW 6 85,461,515 (GRCm39) missense probably damaging 0.97
R5854:Fbxo41 UTSW 6 85,452,076 (GRCm39) missense probably damaging 1.00
R6258:Fbxo41 UTSW 6 85,455,537 (GRCm39) missense probably damaging 1.00
R6260:Fbxo41 UTSW 6 85,455,537 (GRCm39) missense probably damaging 1.00
R6615:Fbxo41 UTSW 6 85,455,505 (GRCm39) missense possibly damaging 0.60
R7061:Fbxo41 UTSW 6 85,452,448 (GRCm39) missense probably benign 0.36
R7353:Fbxo41 UTSW 6 85,456,958 (GRCm39) missense possibly damaging 0.71
R7681:Fbxo41 UTSW 6 85,455,461 (GRCm39) nonsense probably null
R8077:Fbxo41 UTSW 6 85,450,211 (GRCm39) missense probably damaging 0.98
R8801:Fbxo41 UTSW 6 85,461,663 (GRCm39) missense probably damaging 1.00
X0024:Fbxo41 UTSW 6 85,455,452 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16