Incidental Mutation 'R1169:Fbxo44'
ID 101447
Institutional Source Beutler Lab
Gene Symbol Fbxo44
Ensembl Gene ENSMUSG00000029001
Gene Name F-box protein 44
Synonyms Fbx6a, Fbxo6a, FBG3, FBX30
MMRRC Submission 039242-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1169 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148237256-148244663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148240433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 265 (H265R)
Ref Sequence ENSEMBL: ENSMUSP00000134064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000047951] [ENSMUST00000056965] [ENSMUST00000057907] [ENSMUST00000105705] [ENSMUST00000105706] [ENSMUST00000151127] [ENSMUST00000151246] [ENSMUST00000172472] [ENSMUST00000167160] [ENSMUST00000129253] [ENSMUST00000132083] [ENSMUST00000168503] [ENSMUST00000134261] [ENSMUST00000122913] [ENSMUST00000173352] [ENSMUST00000152098]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030858
SMART Domains Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047951
SMART Domains Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556

DomainStartEndE-ValueType
Pfam:F-box 50 97 3.8e-9 PFAM
Pfam:F-box-like 51 97 9.3e-8 PFAM
FBA 114 297 3.81e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056965
SMART Domains Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057907
SMART Domains Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 252 2.24e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105705
SMART Domains Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 196 2.79e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105706
SMART Domains Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151127
AA Change: H265R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: H265R

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 235 4.09e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153703
SMART Domains Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBA 1 143 3.11e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151246
SMART Domains Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 231 1.43e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172472
SMART Domains Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
Pfam:FBA 68 126 3.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167160
SMART Domains Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 252 2.24e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129253
SMART Domains Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 213 1.15e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132083
SMART Domains Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168503
SMART Domains Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134261
SMART Domains Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 228 1.89e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122913
SMART Domains Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
Pfam:FBA 68 115 3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173352
SMART Domains Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 62 103 1.37e-2 SMART
FBA 121 254 3.86e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152098
SMART Domains Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,419,781 (GRCm39) E275G probably damaging Het
Adam10 T A 9: 70,653,574 (GRCm39) I123N probably damaging Het
Adam8 A T 7: 139,563,842 (GRCm39) L715Q probably benign Het
Adcyap1r1 T A 6: 55,471,101 (GRCm39) F418L probably damaging Het
Ankrd50 A T 3: 38,508,401 (GRCm39) I1322K probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atxn7 T C 14: 14,095,468 (GRCm38) S389P possibly damaging Het
C4b A T 17: 34,961,946 (GRCm39) L100Q probably benign Het
Cacul1 G A 19: 60,568,846 (GRCm39) A104V probably damaging Het
Camsap3 T C 8: 3,653,866 (GRCm39) F512S probably damaging Het
Casp1 T C 9: 5,299,454 (GRCm39) V61A possibly damaging Het
Cfap251 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,392,673 (GRCm39) probably benign Het
Chd1 T A 17: 15,955,994 (GRCm39) F531Y probably damaging Het
Clec2h C T 6: 128,651,758 (GRCm39) Q156* probably null Het
Clip2 T A 5: 134,521,104 (GRCm39) E978V probably benign Het
Cnpy2 T G 10: 128,159,465 (GRCm39) L34R probably damaging Het
Cog6 A T 3: 52,921,265 (GRCm39) C114S probably benign Het
Col6a3 A T 1: 90,749,736 (GRCm39) V366E possibly damaging Het
Col6a5 A G 9: 105,774,173 (GRCm39) probably null Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Dmbt1 G A 7: 130,676,254 (GRCm39) probably null Het
Dok1 A G 6: 83,009,029 (GRCm39) F218L possibly damaging Het
Dph7 T A 2: 24,856,583 (GRCm39) N178K probably benign Het
Enam A T 5: 88,651,117 (GRCm39) E800D probably damaging Het
Fads3 A T 19: 10,031,463 (GRCm39) Q205L possibly damaging Het
Gli1 T A 10: 127,174,320 (GRCm39) S24C probably damaging Het
Gm4894 T A 9: 49,185,526 (GRCm39) C43* probably null Het
Gpbp1l1 C T 4: 116,431,563 (GRCm39) H74Y possibly damaging Het
H2-Eb2 T A 17: 34,552,331 (GRCm39) F59I possibly damaging Het
Hspa14 T C 2: 3,499,161 (GRCm39) N211S possibly damaging Het
Ifnlr1 T G 4: 135,432,419 (GRCm39) F285C probably benign Het
Igf1r G T 7: 67,814,875 (GRCm39) V259L probably benign Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Ighg2c A T 12: 113,249,572 (GRCm39) probably benign Het
Ighv8-14 A T 12: 115,772,075 (GRCm39) probably null Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itsn2 A G 12: 4,689,694 (GRCm39) K589R probably damaging Het
Khdc1a A C 1: 21,420,495 (GRCm39) E38D possibly damaging Het
Krt42 T G 11: 100,154,171 (GRCm39) probably null Het
Lpo T C 11: 87,708,143 (GRCm39) N183S possibly damaging Het
Lrrc3 T A 10: 77,736,764 (GRCm39) Y224F probably damaging Het
Ly6g6f T A 17: 35,302,240 (GRCm39) D99V probably damaging Het
Lyplal1 T C 1: 185,846,531 (GRCm39) I42V probably benign Het
Mis18bp1 G A 12: 65,190,057 (GRCm39) Q793* probably null Het
Myh10 T G 11: 68,653,667 (GRCm39) M346R probably damaging Het
Nav1 G T 1: 135,382,943 (GRCm39) H1256Q probably damaging Het
Nbea A G 3: 55,875,744 (GRCm39) V1642A probably benign Het
Or4d6 C T 19: 12,086,853 (GRCm39) R19H probably benign Het
Or8b12i T C 9: 20,082,354 (GRCm39) N171S probably benign Het
Or8i2 A G 2: 86,852,061 (GRCm39) F276L probably damaging Het
Or8k28 A G 2: 86,285,931 (GRCm39) I228T possibly damaging Het
Orm3 G A 4: 63,276,085 (GRCm39) V166M probably damaging Het
Oxct1 T A 15: 4,120,708 (GRCm39) I264N probably damaging Het
Paox G A 7: 139,706,244 (GRCm39) V55I probably benign Het
Pde4d C A 13: 110,087,462 (GRCm39) probably null Het
Pnliprp1 A G 19: 58,723,383 (GRCm39) N258S probably damaging Het
Potegl A G 2: 23,146,994 (GRCm39) K275E possibly damaging Het
Prl7b1 C A 13: 27,790,887 (GRCm39) R66L possibly damaging Het
Ptpre G T 7: 135,269,341 (GRCm39) C261F probably benign Het
Rho C G 6: 115,909,199 (GRCm39) N78K probably damaging Het
Rnf17 A G 14: 56,751,622 (GRCm39) N1487D possibly damaging Het
Ryr3 G A 2: 112,563,359 (GRCm39) T2922I probably benign Het
Saxo2 A C 7: 82,284,379 (GRCm39) F160V possibly damaging Het
Sbf2 A T 7: 109,909,391 (GRCm39) Y1786N probably benign Het
Sdad1 A T 5: 92,446,092 (GRCm39) V280E probably benign Het
Sgsm1 T C 5: 113,427,351 (GRCm39) D90G probably damaging Het
Siglec1 A T 2: 130,916,747 (GRCm39) D1169E probably damaging Het
Sim1 T A 10: 50,857,618 (GRCm39) V456E probably benign Het
Skint8 T A 4: 111,785,710 (GRCm39) I52N possibly damaging Het
Slc27a1 C A 8: 72,033,297 (GRCm39) R280S probably benign Het
Slc9a3 G A 13: 74,298,862 (GRCm39) V94I probably damaging Het
Sorcs2 C A 5: 36,185,269 (GRCm39) V936L possibly damaging Het
Syce1 A G 7: 140,358,120 (GRCm39) F255S probably benign Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem200a T A 10: 25,870,246 (GRCm39) I8F probably damaging Het
Trip6 T C 5: 137,310,182 (GRCm39) H322R probably benign Het
Vmn2r72 A T 7: 85,400,517 (GRCm39) N177K probably benign Het
Other mutations in Fbxo44
AlleleSourceChrCoordTypePredicted EffectPPH Score
trompo UTSW 4 148,240,461 (GRCm39) missense probably benign
R0040:Fbxo44 UTSW 4 148,243,152 (GRCm39) missense probably damaging 1.00
R0737:Fbxo44 UTSW 4 148,243,266 (GRCm39) utr 5 prime probably benign
R0850:Fbxo44 UTSW 4 148,240,726 (GRCm39) missense probably damaging 1.00
R0899:Fbxo44 UTSW 4 148,240,726 (GRCm39) missense probably damaging 1.00
R1423:Fbxo44 UTSW 4 148,240,726 (GRCm39) missense probably damaging 1.00
R1889:Fbxo44 UTSW 4 148,240,726 (GRCm39) missense probably damaging 1.00
R1895:Fbxo44 UTSW 4 148,240,726 (GRCm39) missense probably damaging 1.00
R3712:Fbxo44 UTSW 4 148,240,461 (GRCm39) missense probably benign
R3774:Fbxo44 UTSW 4 148,241,051 (GRCm39) missense probably damaging 1.00
R3834:Fbxo44 UTSW 4 148,240,707 (GRCm39) missense probably damaging 1.00
R4411:Fbxo44 UTSW 4 148,238,065 (GRCm39) missense probably damaging 1.00
R4810:Fbxo44 UTSW 4 148,240,903 (GRCm39) missense probably damaging 1.00
R5086:Fbxo44 UTSW 4 148,240,669 (GRCm39) missense probably benign 0.00
R5108:Fbxo44 UTSW 4 148,243,020 (GRCm39) missense probably damaging 1.00
R5344:Fbxo44 UTSW 4 148,238,030 (GRCm39) missense probably damaging 0.98
R5423:Fbxo44 UTSW 4 148,238,686 (GRCm39) missense probably benign 0.00
R5930:Fbxo44 UTSW 4 148,241,052 (GRCm39) missense probably damaging 1.00
R6017:Fbxo44 UTSW 4 148,243,010 (GRCm39) missense probably benign 0.17
R6132:Fbxo44 UTSW 4 148,240,565 (GRCm39) missense probably benign 0.10
R6498:Fbxo44 UTSW 4 148,238,882 (GRCm39)
R7085:Fbxo44 UTSW 4 148,243,200 (GRCm39) missense probably damaging 0.98
R7142:Fbxo44 UTSW 4 148,243,269 (GRCm39) missense unknown
R7374:Fbxo44 UTSW 4 148,241,094 (GRCm39) missense probably benign 0.21
R7679:Fbxo44 UTSW 4 148,238,089 (GRCm39) missense probably benign 0.43
R8306:Fbxo44 UTSW 4 148,243,089 (GRCm39) missense probably benign 0.42
R8899:Fbxo44 UTSW 4 148,238,078 (GRCm39) nonsense probably null
X0017:Fbxo44 UTSW 4 148,240,680 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15