Incidental Mutation 'R3875:Fbxo43'
ID 276816
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 068967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R3875 (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 36162249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 319 (F319L)
Ref Sequence ENSEMBL: ENSMUSP00000054125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058643] [ENSMUST00000227793]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058643
AA Change: F319L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: F319L

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 probably benign
Transcript: ENSMUST00000227793
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,276,000 (GRCm39) S72P probably benign Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Adgrg2 A G X: 159,261,992 (GRCm39) S337G probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cacna1g G A 11: 94,328,749 (GRCm39) T1033I probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cpne1 G A 2: 155,918,202 (GRCm39) H352Y probably damaging Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dhodh T C 8: 110,321,592 (GRCm39) D310G probably null Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Drd5 T G 5: 38,477,157 (GRCm39) V50G possibly damaging Het
Dst C A 1: 34,210,328 (GRCm39) H934Q probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Flii T C 11: 60,611,318 (GRCm39) S418G probably benign Het
Glyctk T A 9: 106,034,820 (GRCm39) Y82F probably damaging Het
Gm11353 G T 13: 26,676,651 (GRCm39) noncoding transcript Het
Gm6505 T A 3: 28,819,286 (GRCm39) noncoding transcript Het
Gpr151 A G 18: 42,711,661 (GRCm39) V339A probably benign Het
H2-T22 T C 17: 36,351,195 (GRCm39) I296V probably benign Het
Igfn1 T C 1: 135,882,352 (GRCm39) N2831S probably damaging Het
Igkv13-85 A G 6: 68,907,484 (GRCm39) V39A probably damaging Het
Irx5 A G 8: 93,086,793 (GRCm39) T242A probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mcoln1 A G 8: 3,558,355 (GRCm39) D203G probably benign Het
Mlph T C 1: 90,855,844 (GRCm39) C57R probably damaging Het
Myh13 C A 11: 67,249,020 (GRCm39) H1275Q probably benign Het
Nbeal1 T A 1: 60,233,758 (GRCm39) probably benign Het
Orc5 T A 5: 22,742,564 (GRCm39) M115L probably benign Het
Pcdha6 T A 18: 37,101,119 (GRCm39) I104N probably damaging Het
Plcb4 T C 2: 135,844,552 (GRCm39) S157P probably damaging Het
Polq A G 16: 36,894,389 (GRCm39) D1787G probably damaging Het
Prkar2b T G 12: 32,015,122 (GRCm39) I142L probably benign Het
Ptprq A G 10: 107,520,965 (GRCm39) S736P possibly damaging Het
Qrich2 A T 11: 116,336,477 (GRCm39) V2046D probably damaging Het
Rad21 A T 15: 51,833,361 (GRCm39) F373I probably damaging Het
Rcvrn A G 11: 67,590,880 (GRCm39) I155V probably benign Het
Rsrc2 C T 5: 123,874,691 (GRCm39) probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Ssc5d A T 7: 4,930,261 (GRCm39) D114V probably damaging Het
St6gal2 C A 17: 55,789,698 (GRCm39) P244Q probably benign Het
Tarbp1 A G 8: 127,165,538 (GRCm39) probably benign Het
Tmem221 T C 8: 72,008,399 (GRCm39) probably null Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Trim32 A T 4: 65,531,703 (GRCm39) I87F possibly damaging Het
Tti2 A G 8: 31,641,175 (GRCm39) K100E probably benign Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vps13d A G 4: 144,917,114 (GRCm39) Y17H probably damaging Het
Zfp106 T C 2: 120,365,094 (GRCm39) K438E probably benign Het
Zfp60 T C 7: 27,449,006 (GRCm39) I558T probably damaging Het
Zzef1 A C 11: 72,779,866 (GRCm39) I1880L 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
R0827:Fbxo43 UTSW 15 36,163,115 (GRCm39) missense possibly damaging 0.90
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
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'- GTCATCTTCCTGCTGAGATCG -3'
(R):5'- TTCTTCAGGAGAGGTGAGAGAC -3'

Sequencing Primer
(F):5'- GCTTTTCATAAAGAGCTCCTGCAC -3'
(R):5'- GAGGTGAGAGACAGTCTTTTTACACC -3'
Posted On 2015-04-06