Incidental Mutation 'R0827:Fbxo43'
ID 78344
Institutional Source Beutler Lab
Gene Symbol Fbxo43
Ensembl Gene ENSMUSG00000048230
Gene Name F-box protein 43
Synonyms Emi2, early mitotic inhibitor 2, endogenous meiotic inhibitor 2, XErp1 homolog, 4930533G20Rik
MMRRC Submission 039007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R0827 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 36150206-36165030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36163115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 31 (S31T)
Ref Sequence ENSEMBL: ENSMUSP00000154351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058643] [ENSMUST00000227793]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000058643
AA Change: S31T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: S31T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227781
Predicted Effect possibly damaging
Transcript: ENSMUST00000227793
AA Change: S31T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Dusp13b C A 14: 21,792,839 (GRCm39) V29L probably benign Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Myo3a T G 2: 22,448,227 (GRCm39) Y1D probably damaging Het
Nek1 A G 8: 61,558,682 (GRCm39) probably benign Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Ripor2 T A 13: 24,878,169 (GRCm39) F315I probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign Het
Other mutations in Fbxo43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Fbxo43 APN 15 36,151,972 (GRCm39) missense probably damaging 1.00
IGL02212:Fbxo43 APN 15 36,151,957 (GRCm39) missense probably damaging 0.99
IGL02246:Fbxo43 APN 15 36,162,842 (GRCm39) missense probably benign 0.06
IGL02576:Fbxo43 APN 15 36,152,321 (GRCm39) missense probably benign 0.01
FR4304:Fbxo43 UTSW 15 36,152,246 (GRCm39) small insertion probably benign
FR4304:Fbxo43 UTSW 15 36,152,243 (GRCm39) small insertion probably benign
FR4304:Fbxo43 UTSW 15 36,152,240 (GRCm39) small insertion probably benign
FR4548:Fbxo43 UTSW 15 36,152,244 (GRCm39) nonsense probably null
FR4589:Fbxo43 UTSW 15 36,152,247 (GRCm39) small insertion probably benign
FR4589:Fbxo43 UTSW 15 36,152,246 (GRCm39) small insertion probably benign
R0193:Fbxo43 UTSW 15 36,162,029 (GRCm39) missense probably benign 0.29
R0244:Fbxo43 UTSW 15 36,161,939 (GRCm39) missense probably damaging 1.00
R0322:Fbxo43 UTSW 15 36,152,338 (GRCm39) splice site probably benign
R0409:Fbxo43 UTSW 15 36,162,503 (GRCm39) missense probably benign 0.01
R1562:Fbxo43 UTSW 15 36,163,162 (GRCm39) missense probably damaging 0.99
R1880:Fbxo43 UTSW 15 36,162,661 (GRCm39) missense probably benign 0.02
R2051:Fbxo43 UTSW 15 36,162,278 (GRCm39) missense probably damaging 1.00
R3792:Fbxo43 UTSW 15 36,163,005 (GRCm39) missense probably benign 0.03
R3875:Fbxo43 UTSW 15 36,162,249 (GRCm39) missense probably benign
R3876:Fbxo43 UTSW 15 36,152,258 (GRCm39) missense probably damaging 1.00
R5023:Fbxo43 UTSW 15 36,163,075 (GRCm39) missense probably benign 0.13
R5633:Fbxo43 UTSW 15 36,162,241 (GRCm39) splice site probably null
R5997:Fbxo43 UTSW 15 36,162,239 (GRCm39) missense probably damaging 1.00
R6589:Fbxo43 UTSW 15 36,162,686 (GRCm39) missense probably damaging 0.99
R7238:Fbxo43 UTSW 15 36,151,971 (GRCm39) missense probably damaging 1.00
R7536:Fbxo43 UTSW 15 36,161,997 (GRCm39) missense probably benign
R7689:Fbxo43 UTSW 15 36,163,201 (GRCm39) missense probably benign 0.00
R7780:Fbxo43 UTSW 15 36,162,358 (GRCm39) missense probably damaging 1.00
R8167:Fbxo43 UTSW 15 36,151,917 (GRCm39) missense probably damaging 1.00
R8184:Fbxo43 UTSW 15 36,162,485 (GRCm39) missense possibly damaging 0.53
R8306:Fbxo43 UTSW 15 36,162,013 (GRCm39) missense probably benign 0.01
R8393:Fbxo43 UTSW 15 36,162,494 (GRCm39) missense probably benign 0.06
R9099:Fbxo43 UTSW 15 36,162,619 (GRCm39) missense possibly damaging 0.56
R9658:Fbxo43 UTSW 15 36,152,282 (GRCm39) missense probably damaging 1.00
X0025:Fbxo43 UTSW 15 36,152,306 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTAGCCGCCTGCGTAATG -3'
(R):5'- GCTTGGCTGCACATCACAAAGG -3'

Sequencing Primer
(F):5'- TGACTGGGAGATACTGCAGA -3'
(R):5'- CACATCACAAAGGAAGAATAAACTTG -3'
Posted On 2013-10-16