Incidental Mutation 'R5715:Fbxo31'
ID 451116
Institutional Source Beutler Lab
Gene Symbol Fbxo31
Ensembl Gene ENSMUSG00000052934
Gene Name F-box protein 31
Synonyms Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik
MMRRC Submission 043336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5715 (G1)
Quality Score 118
Status Not validated
Chromosome 8
Chromosomal Location 122276179-122305545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122305302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 65 (F65L)
Ref Sequence ENSEMBL: ENSMUSP00000057573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059018] [ENSMUST00000127664]
AlphaFold Q3TQF0
Predicted Effect probably damaging
Transcript: ENSMUST00000059018
AA Change: F65L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: F65L

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 25 42 N/A INTRINSIC
FBOX 56 96 3.45e-8 SMART
low complexity region 358 379 N/A INTRINSIC
low complexity region 385 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181663
SMART Domains Protein: ENSMUSP00000137907
Gene: ENSMUSG00000052934

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 25 42 N/A INTRINSIC
FBOX 56 96 3.45e-8 SMART
transmembrane domain 156 178 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182000
Predicted Effect unknown
Transcript: ENSMUST00000212985
AA Change: F62L
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,777 (GRCm39) Y552F probably damaging Het
Asprv1 T A 6: 86,605,596 (GRCm39) D147E probably benign Het
Atg4c G T 4: 99,146,639 (GRCm39) L405F probably damaging Het
Birc6 C T 17: 74,938,615 (GRCm39) L2670F probably damaging Het
Cdc20 T C 4: 118,292,015 (GRCm39) D379G probably damaging Het
Chd6 T C 2: 160,791,798 (GRCm39) M2520V probably benign Het
Clca4b A G 3: 144,619,018 (GRCm39) V707A probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col12a1 A T 9: 79,523,347 (GRCm39) C2743* probably null Het
Coq6 C A 12: 84,413,681 (GRCm39) D70E probably benign Het
Cspg4 T A 9: 56,798,335 (GRCm39) V1450D possibly damaging Het
Dnah7a A G 1: 53,452,937 (GRCm39) L3847P probably damaging Het
Drd2 T A 9: 49,316,189 (GRCm39) H316Q probably benign Het
Dusp19 T A 2: 80,461,330 (GRCm39) N206K probably benign Het
Fam13c T G 10: 70,370,670 (GRCm39) F270C probably damaging Het
Fam20a T C 11: 109,569,257 (GRCm39) E246G probably damaging Het
Fshr T A 17: 89,293,824 (GRCm39) probably null Het
Fstl4 T C 11: 52,891,243 (GRCm39) V127A possibly damaging Het
Gdpd4 A T 7: 97,610,804 (GRCm39) I75F probably benign Het
Grm5 C A 7: 87,779,464 (GRCm39) A968E probably benign Het
Gucy2g A C 19: 55,221,587 (GRCm39) F305V possibly damaging Het
Hivep3 T C 4: 119,953,570 (GRCm39) F629L probably benign Het
Hoxb1 A G 11: 96,257,152 (GRCm39) E167G probably benign Het
Hoxd4 T C 2: 74,557,708 (GRCm39) L29P probably damaging Het
Ikbkb A G 8: 23,168,866 (GRCm39) L211P probably damaging Het
Insc T C 7: 114,449,076 (GRCm39) V499A probably benign Het
Irak3 A T 10: 119,978,641 (GRCm39) H511Q possibly damaging Het
Itpripl1 T C 2: 126,983,927 (GRCm39) E65G probably damaging Het
Lurap1l T A 4: 80,871,958 (GRCm39) S150R possibly damaging Het
Mab21l3 C T 3: 101,730,723 (GRCm39) R172Q probably benign Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Mettl21a A T 1: 64,654,314 (GRCm39) S68T probably benign Het
Mlxip T A 5: 123,578,121 (GRCm39) W146R probably damaging Het
Mpp2 T A 11: 101,953,087 (GRCm39) N285I probably damaging Het
Mrgprb4 T C 7: 47,848,787 (GRCm39) N47S probably damaging Het
Msi2 A G 11: 88,276,889 (GRCm39) Y237H probably damaging Het
Muc4 C T 16: 32,570,734 (GRCm39) T598I possibly damaging Het
Musk A T 4: 58,333,663 (GRCm39) I253F probably damaging Het
Myo5b G T 18: 74,875,246 (GRCm39) C1550F possibly damaging Het
Nckap5l T C 15: 99,321,457 (GRCm39) T1137A probably benign Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nxph1 T A 6: 9,247,740 (GRCm39) V237E probably damaging Het
Or52a33 A C 7: 103,289,009 (GRCm39) S113A probably damaging Het
Pla2g12a A G 3: 129,688,591 (GRCm39) K150E probably damaging Het
Potegl T C 2: 23,097,989 (GRCm39) Y56H possibly damaging Het
Pramel30 A G 4: 144,057,870 (GRCm39) D159G possibly damaging Het
Ptpn23 G A 9: 110,216,143 (GRCm39) R1238W probably damaging Het
Pts C T 9: 50,433,578 (GRCm39) G124R probably damaging Het
Rfk A T 19: 17,376,002 (GRCm39) I99F probably benign Het
Rictor A T 15: 6,780,197 (GRCm39) R151* probably null Het
Scn2a T A 2: 65,547,928 (GRCm39) I1040N probably benign Het
Serinc5 A C 13: 92,842,710 (GRCm39) T387P probably damaging Het
Sh3bp5l A G 11: 58,236,841 (GRCm39) Q266R possibly damaging Het
Slc14a2 T C 18: 78,201,551 (GRCm39) Y656C probably damaging Het
Slc26a3 T A 12: 31,498,842 (GRCm39) probably null Het
Slc3a2 G T 19: 8,685,594 (GRCm39) H168Q probably benign Het
Smarca2 A T 19: 26,626,522 (GRCm39) I449L probably benign Het
Smarcc1 T C 9: 110,025,435 (GRCm39) V704A possibly damaging Het
Sox13 A G 1: 133,313,921 (GRCm39) probably null Het
Sptbn5 T C 2: 119,902,985 (GRCm39) E7G probably damaging Het
Stard10 A G 7: 100,971,110 (GRCm39) D26G probably damaging Het
Tap1 A T 17: 34,411,868 (GRCm39) R91* probably null Het
Tgfbrap1 A T 1: 43,099,097 (GRCm39) V239D possibly damaging Het
Tmem209 A T 6: 30,497,922 (GRCm39) Y124* probably null Het
Tmprss2 T A 16: 97,370,183 (GRCm39) E327V possibly damaging Het
Ttbk1 T C 17: 46,790,133 (GRCm39) Y104C probably damaging Het
Ttll10 A T 4: 156,129,848 (GRCm39) F154I probably damaging Het
Ubn2 T A 6: 38,438,412 (GRCm39) Y40* probably null Het
Ubr5 A T 15: 38,002,477 (GRCm39) S1519T probably benign Het
Ugt3a1 A C 15: 9,306,430 (GRCm39) D193A probably damaging Het
Upf1 A T 8: 70,805,628 (GRCm39) Y6N probably damaging Het
Vmn2r103 A T 17: 20,015,201 (GRCm39) D447V probably benign Het
Vps39 T C 2: 120,155,717 (GRCm39) N519S possibly damaging Het
Zfp109 T C 7: 23,928,995 (GRCm39) E138G possibly damaging Het
Znrf3 A C 11: 5,236,239 (GRCm39) V157G possibly damaging Het
Other mutations in Fbxo31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Fbxo31 APN 8 122,281,069 (GRCm39) missense possibly damaging 0.92
IGL02155:Fbxo31 APN 8 122,285,814 (GRCm39) missense probably damaging 1.00
IGL02551:Fbxo31 APN 8 122,293,083 (GRCm39) missense probably damaging 0.99
IGL03092:Fbxo31 APN 8 122,286,757 (GRCm39) missense probably benign
Archive UTSW 8 122,281,967 (GRCm39) missense probably benign
Repository UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R0377:Fbxo31 UTSW 8 122,285,841 (GRCm39) unclassified probably benign
R0730:Fbxo31 UTSW 8 122,282,103 (GRCm39) unclassified probably benign
R1132:Fbxo31 UTSW 8 122,279,019 (GRCm39) frame shift probably null
R1132:Fbxo31 UTSW 8 122,279,015 (GRCm39) frame shift probably null
R1626:Fbxo31 UTSW 8 122,286,745 (GRCm39) missense probably damaging 1.00
R1796:Fbxo31 UTSW 8 122,287,177 (GRCm39) nonsense probably null
R2215:Fbxo31 UTSW 8 122,293,050 (GRCm39) missense probably benign 0.01
R3726:Fbxo31 UTSW 8 122,305,248 (GRCm39) missense probably damaging 1.00
R3761:Fbxo31 UTSW 8 122,287,169 (GRCm39) missense possibly damaging 0.94
R4646:Fbxo31 UTSW 8 122,286,755 (GRCm39) missense probably benign
R4782:Fbxo31 UTSW 8 122,279,180 (GRCm39) missense probably damaging 1.00
R4782:Fbxo31 UTSW 8 122,279,178 (GRCm39) nonsense probably null
R5103:Fbxo31 UTSW 8 122,279,101 (GRCm39) missense probably damaging 1.00
R6347:Fbxo31 UTSW 8 122,305,198 (GRCm39) missense possibly damaging 0.69
R6551:Fbxo31 UTSW 8 122,291,443 (GRCm39) intron probably benign
R7027:Fbxo31 UTSW 8 122,305,224 (GRCm39) missense probably damaging 1.00
R7156:Fbxo31 UTSW 8 122,281,060 (GRCm39) missense possibly damaging 0.83
R7271:Fbxo31 UTSW 8 122,305,503 (GRCm39) unclassified probably benign
R7594:Fbxo31 UTSW 8 122,279,107 (GRCm39) missense probably damaging 1.00
R7860:Fbxo31 UTSW 8 122,291,384 (GRCm39) splice site probably null
R8039:Fbxo31 UTSW 8 122,285,794 (GRCm39) missense probably damaging 1.00
R8116:Fbxo31 UTSW 8 122,287,127 (GRCm39) missense probably damaging 1.00
R8284:Fbxo31 UTSW 8 122,287,181 (GRCm39) missense probably benign 0.01
R8726:Fbxo31 UTSW 8 122,282,014 (GRCm39) nonsense probably null
R8867:Fbxo31 UTSW 8 122,281,967 (GRCm39) missense probably benign
R9081:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9082:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9093:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9094:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9095:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9098:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9667:Fbxo31 UTSW 8 122,305,208 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATTATTCCTGCACCGGGAG -3'
(R):5'- CATACAAGGGCGTGGACCTAAC -3'

Sequencing Primer
(F):5'- AGCAGGCCTGGTTTGGAACTC -3'
(R):5'- TTGAGGAGCCTGCAAGC -3'
Posted On 2017-01-03