Incidental Mutation 'IGL01339:Fbxo40'
ID74784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo40
Ensembl Gene ENSMUSG00000047746
Gene NameF-box protein 40
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL01339
Quality Score
Status
Chromosome16
Chromosomal Location36963460-36990467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36970454 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 98 (E98G)
Ref Sequence ENSEMBL: ENSMUSP00000110454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075869] [ENSMUST00000114806]
Predicted Effect probably damaging
Transcript: ENSMUST00000075869
AA Change: E98G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: E98G

DomainStartEndE-ValueType
Pfam:zf-TRAF_2 12 104 6.1e-42 PFAM
Pfam:F-box_4 571 686 1.2e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114806
AA Change: E98G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: E98G

DomainStartEndE-ValueType
PDB:2YRE|A 12 92 1e-27 PDB
SCOP:d1k2fa_ 62 97 5e-4 SMART
Blast:FBOX 578 616 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132511
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 FBXO40, 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,289,512 T2565A probably damaging Het
C8a A C 4: 104,827,985 F354V probably benign Het
Cadps C T 14: 12,486,543 V876M possibly damaging Het
Chmp7 A T 14: 69,719,406 I351N probably damaging Het
Clec7a A T 6: 129,465,486 W193R probably damaging Het
Clint1 T C 11: 45,909,019 V535A probably benign Het
Clu A G 14: 65,975,588 E141G probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cntn2 A T 1: 132,518,905 probably null Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2d10 C T 15: 82,403,841 A195T probably benign Het
Dnah10 G T 5: 124,777,212 K1901N probably damaging Het
Dopey1 G A 9: 86,551,677 D2329N possibly damaging Het
Eipr1 A G 12: 28,864,771 E308G probably damaging Het
Exoc4 T C 6: 33,305,400 probably benign Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbn2 T C 18: 58,113,370 T487A possibly damaging Het
Folh1 G A 7: 86,726,098 T527I probably damaging Het
Gls C T 1: 52,188,708 D217N probably damaging Het
Gm6994 A G 14: 77,481,178 probably benign Het
Gpr149 A T 3: 62,604,297 W94R probably damaging Het
Gpr158 A G 2: 21,369,031 D259G possibly damaging Het
Hcn2 T C 10: 79,729,068 L438P probably damaging Het
Hgd A C 16: 37,631,730 T374P possibly damaging Het
Ints3 A G 3: 90,415,156 probably null Het
Kctd5 A T 17: 24,057,775 V172E probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lrrc37a A G 11: 103,497,937 S2221P unknown Het
Ltk T A 2: 119,752,974 D310V probably damaging Het
Luzp1 T A 4: 136,542,776 M770K probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Mzb1 T A 18: 35,648,346 H71L probably benign Het
Necap2 G A 4: 141,074,965 T63I probably benign Het
Nefl A G 14: 68,086,482 probably benign Het
Odam G A 5: 87,885,896 probably null Het
Pcdh18 A G 3: 49,755,798 I356T probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Pde2a T C 7: 101,507,159 S593P probably benign Het
Rapgef3 A T 15: 97,758,059 L359M probably damaging Het
Rb1 T C 14: 73,264,371 probably null Het
Rbm44 A G 1: 91,168,964 I976V probably benign Het
Rdh13 A T 7: 4,427,624 S278R probably damaging Het
Rgma A G 7: 73,417,483 E256G probably damaging Het
Rnf112 A T 11: 61,450,477 D402E probably benign Het
Rnps1 T A 17: 24,422,299 D224E probably damaging Het
Scn10a C T 9: 119,622,766 V1364M probably damaging Het
Scn1a C T 2: 66,325,960 R535H probably benign Het
Scn8a A T 15: 101,032,201 D1431V probably benign Het
Setdb1 A T 3: 95,338,580 L677* probably null Het
Slc17a8 T A 10: 89,591,244 I148F probably damaging Het
Slx4ip T A 2: 137,044,055 C98* probably null Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Tcof1 T C 18: 60,818,095 probably benign Het
Tdrd3 G A 14: 87,480,794 V210I possibly damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tmod4 G A 3: 95,128,297 R252H probably benign Het
Tti1 G T 2: 158,009,130 P63Q possibly damaging Het
Tuft1 A T 3: 94,628,287 D109E probably damaging Het
Wdr63 T C 3: 146,042,836 Y841C probably benign Het
Zcchc2 T C 1: 106,029,775 S659P probably damaging Het
Other mutations in Fbxo40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Fbxo40 APN 16 36969174 missense possibly damaging 0.63
IGL02389:Fbxo40 APN 16 36969774 missense probably benign 0.26
IGL02619:Fbxo40 APN 16 36970404 missense possibly damaging 0.92
IGL02620:Fbxo40 APN 16 36966080 missense probably benign 0.14
R0532:Fbxo40 UTSW 16 36969622 missense possibly damaging 0.92
R1016:Fbxo40 UTSW 16 36969177 nonsense probably null
R1783:Fbxo40 UTSW 16 36966222 missense probably damaging 0.99
R1832:Fbxo40 UTSW 16 36968856 nonsense probably null
R1938:Fbxo40 UTSW 16 36969351 missense probably damaging 0.98
R1974:Fbxo40 UTSW 16 36969941 missense probably benign
R1995:Fbxo40 UTSW 16 36969869 missense probably damaging 1.00
R3856:Fbxo40 UTSW 16 36969083 missense probably damaging 1.00
R4346:Fbxo40 UTSW 16 36970163 missense probably benign 0.01
R4907:Fbxo40 UTSW 16 36969702 missense probably benign 0.01
R5059:Fbxo40 UTSW 16 36970296 missense possibly damaging 0.48
R5114:Fbxo40 UTSW 16 36968874 missense probably damaging 1.00
R5361:Fbxo40 UTSW 16 36969552 missense possibly damaging 0.62
R5721:Fbxo40 UTSW 16 36968934 missense probably benign 0.06
R5724:Fbxo40 UTSW 16 36970330 missense probably benign 0.18
R5808:Fbxo40 UTSW 16 36970382 missense probably damaging 1.00
R6189:Fbxo40 UTSW 16 36966164 missense probably benign 0.32
R6461:Fbxo40 UTSW 16 36970028 missense probably benign 0.00
R6571:Fbxo40 UTSW 16 36969306 missense probably damaging 1.00
R6598:Fbxo40 UTSW 16 36969014 missense probably damaging 1.00
R6639:Fbxo40 UTSW 16 36970575 missense probably damaging 1.00
R7017:Fbxo40 UTSW 16 36970370 missense probably damaging 1.00
R7827:Fbxo40 UTSW 16 36969499 missense probably damaging 1.00
R7889:Fbxo40 UTSW 16 36969650 missense probably damaging 1.00
R7972:Fbxo40 UTSW 16 36969650 missense probably damaging 1.00
R8047:Fbxo40 UTSW 16 36969869 missense not run
X0022:Fbxo40 UTSW 16 36969301 missense probably benign 0.37
Z1176:Fbxo40 UTSW 16 36969599 missense not run
Z1177:Fbxo40 UTSW 16 36970262 missense not run
Posted On2013-10-07