Incidental Mutation 'R3792:Fbxo43'
ID272607
Institutional Source Beutler Lab
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: 0.210) question?
Stock #R3792 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location36150060-36164884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36162859 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 67 (I67M)
Ref Sequence ENSEMBL: ENSMUSP00000154351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058643] [ENSMUST00000227793]
Predicted Effect probably benign
Transcript: ENSMUST00000058643
AA Change: I67M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: I67M

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
AA Change: I67M

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 81,420,817 V428A probably benign Het
Aanat T C 11: 116,596,231 L88P probably damaging Het
Arhgap5 A T 12: 52,519,888 N1214I probably benign Het
BC034090 A T 1: 155,241,797 S192T probably damaging Het
Bco1 G A 8: 117,130,676 V461I possibly damaging Het
Cass4 C T 2: 172,432,558 P753L probably damaging Het
Cubn G A 2: 13,427,914 R1199C probably damaging Het
Dcaf12l1 T C X: 44,788,436 N495S possibly damaging Het
Dopey2 C A 16: 93,771,846 Q1599K possibly damaging Het
Dyrk1a C A 16: 94,685,074 L427I probably benign Het
Esp16 T C 17: 39,537,848 I11T possibly damaging Het
Esyt3 A T 9: 99,315,281 F832Y possibly damaging Het
F8 A T X: 75,285,365 probably null Het
Fam135a T C 1: 24,028,311 Y259C probably benign Het
Fbxo38 T C 18: 62,533,462 probably null Het
Gcfc2 G T 6: 81,930,767 C154F probably benign Het
Gm21731 G T 13: 120,240,931 V88F probably damaging Het
Hipk2 C T 6: 38,698,556 R1029H probably damaging Het
Ilk G A 7: 105,742,087 W73* probably null Het
Ism1 T C 2: 139,740,253 S162P probably damaging Het
Itpkb T A 1: 180,333,173 L288Q possibly damaging Het
Itpr2 C A 6: 146,415,354 K306N probably damaging Het
Kdm2a C T 19: 4,324,512 E864K possibly damaging Het
Kdm4b G A 17: 56,355,944 V172M probably damaging Het
Kyat3 A T 3: 142,737,844 K406M probably null Het
Lipe T A 7: 25,397,620 K299N possibly damaging Het
Lrrc2 T A 9: 110,966,517 C123* probably null Het
Mptx2 T A 1: 173,274,673 I150F probably damaging Het
Mroh2b G T 15: 4,923,620 W612L probably damaging Het
Mucl2 T C 15: 103,898,426 T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 C709* probably null Het
Olfr164 A G 16: 19,285,946 S266P possibly damaging Het
Olfr624 A T 7: 103,670,146 I295N probably damaging Het
Oprm1 T C 10: 6,839,544 S390P probably benign Het
Pcdhb14 T C 18: 37,449,662 L607P probably damaging Het
Rap1gds1 A T 3: 138,965,960 I133N probably damaging Het
Rasl10a T C 11: 5,059,461 L83S probably damaging Het
Satb2 C T 1: 56,845,620 V382M probably damaging Het
Sh3gl1 T C 17: 56,018,949 K160R probably damaging Het
Sirt4 T C 5: 115,480,292 D241G probably benign Het
Sla2 G A 2: 156,875,942 R137C probably damaging Het
Spef2 A G 15: 9,704,536 I454T probably damaging Het
Stag3 A G 5: 138,298,349 K490E probably benign Het
Tctn3 T C 19: 40,611,711 K95R probably benign Het
Tdgf1 C T 9: 110,943,190 R46Q probably benign Het
Trp53bp1 T C 2: 121,200,329 I1784V probably damaging Het
Ttc21a A T 9: 119,954,165 E511V probably damaging Het
Ttn A G 2: 76,711,888 F25258L probably damaging Het
Ttn A C 2: 76,808,946 C13828G probably damaging Het
Vmn1r210 T A 13: 22,827,403 M238L probably damaging Het
Vmn1r38 A G 6: 66,776,907 I75T probably benign Het
Vmn2r84 T A 10: 130,385,800 *850C probably null Het
Vwa7 T C 17: 35,025,159 probably null Het
Zfp128 T A 7: 12,884,732 D52E probably damaging Het
Zfp618 T C 4: 63,115,491 probably benign Het
Zkscan2 T A 7: 123,485,002 E633V possibly damaging Het
Other mutations in Fbxo43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Fbxo43 APN 15 36151826 missense probably damaging 1.00
IGL02212:Fbxo43 APN 15 36151811 missense probably damaging 0.99
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
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
R7536:Fbxo43 UTSW 15 36161851 missense probably benign
R7689:Fbxo43 UTSW 15 36163055 missense probably benign 0.00
X0025:Fbxo43 UTSW 15 36152160 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACCTGAAGTGCTACCTGGC -3'
(R):5'- TCACTGTCAAGGGTCTCAGC -3'

Sequencing Primer
(F):5'- CCTGAAGTGCTACCTGGCAAATG -3'
(R):5'- TGTCAAGGGTCTCAGCCTCATAG -3'
Posted On2015-03-25