Incidental Mutation 'IGL02212:Fbxo43'
ID285520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo43
Ensembl Gene ENSMUSG00000048230
Gene NameF-box protein 43
Synonymsearly mitotic inhibitor 2, XErp1 homolog, 4930533G20Rik, Emi2, endogenous meiotic inhibitor 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL02212
Quality Score
Status
Chromosome15
Chromosomal Location36150060-36164884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36151811 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 587 (K587E)
Ref Sequence ENSEMBL: ENSMUSP00000054125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058643]
Predicted Effect probably damaging
Transcript: ENSMUST00000058643
AA Change: K587E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: K587E

DomainStartEndE-ValueType
low complexity region 88 100 N/A INTRINSIC
low complexity region 393 406 N/A INTRINSIC
Blast:FBOX 439 479 2e-14 BLAST
low complexity region 502 515 N/A INTRINSIC
IBR 555 614 1.46e-4 SMART
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 FBXO43, 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Fbxo43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Fbxo43 APN 15 36151826 missense probably damaging 1.00
IGL02246:Fbxo43 APN 15 36162696 missense probably benign 0.06
IGL02576:Fbxo43 APN 15 36152175 missense probably benign 0.01
FR4304:Fbxo43 UTSW 15 36152094 small insertion probably benign
FR4304:Fbxo43 UTSW 15 36152097 small insertion probably benign
FR4304:Fbxo43 UTSW 15 36152100 small insertion probably benign
FR4548:Fbxo43 UTSW 15 36152098 nonsense probably null
FR4589:Fbxo43 UTSW 15 36152100 small insertion probably benign
FR4589:Fbxo43 UTSW 15 36152101 small insertion probably benign
R0193:Fbxo43 UTSW 15 36161883 missense probably benign 0.29
R0244:Fbxo43 UTSW 15 36161793 missense probably damaging 1.00
R0322:Fbxo43 UTSW 15 36152192 splice site probably benign
R0409:Fbxo43 UTSW 15 36162357 missense probably benign 0.01
R0827:Fbxo43 UTSW 15 36162969 missense possibly damaging 0.90
R1562:Fbxo43 UTSW 15 36163016 missense probably damaging 0.99
R1880:Fbxo43 UTSW 15 36162515 missense probably benign 0.02
R2051:Fbxo43 UTSW 15 36162132 missense probably damaging 1.00
R3792:Fbxo43 UTSW 15 36162859 missense probably benign 0.03
R3875:Fbxo43 UTSW 15 36162103 missense probably benign
R3876:Fbxo43 UTSW 15 36152112 missense probably damaging 1.00
R5023:Fbxo43 UTSW 15 36162929 missense probably benign 0.13
R5633:Fbxo43 UTSW 15 36162095 unclassified probably null
R5997:Fbxo43 UTSW 15 36162093 missense probably damaging 1.00
R6589:Fbxo43 UTSW 15 36162540 missense probably damaging 0.99
R7238:Fbxo43 UTSW 15 36151825 missense probably damaging 1.00
X0025:Fbxo43 UTSW 15 36152160 missense probably damaging 1.00
Posted On2015-04-16