Incidental Mutation 'R6498:Fbxo44'
ID 540699
Institutional Source Beutler Lab
Gene Symbol Fbxo44
Ensembl Gene ENSMUSG00000029001
Gene Name F-box protein 44
Synonyms Fbx6a, Fbxo6a, FBG3, FBX30
MMRRC Submission 044630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6498 (G1)
Quality Score 150.008
Status Validated
Chromosome 4
Chromosomal Location 148237256-148244663 bp(-) (GRCm39)
Type of Mutation
DNA Base Change (assembly) C to T at 148238882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.8%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,182,928 (GRCm39) N1043T possibly damaging Het
Actn2 C T 13: 12,291,359 (GRCm39) E682K probably damaging Het
Agtpbp1 A G 13: 59,624,854 (GRCm39) V833A possibly damaging Het
Arrb2 G T 11: 70,330,375 (GRCm39) R333L probably benign Het
Atp9b C T 18: 80,820,230 (GRCm39) S135N probably benign Het
Cep112 T A 11: 108,331,357 (GRCm39) S135R probably benign Het
D630045J12Rik G A 6: 38,124,132 (GRCm39) R1607* probably null Het
Duox1 A T 2: 122,150,088 (GRCm39) S160C probably damaging Het
Eogt A T 6: 97,112,174 (GRCm39) Y160N probably damaging Het
Exosc10 T C 4: 148,657,795 (GRCm39) V647A probably benign Het
Fen1 G T 19: 10,177,479 (GRCm39) R322S probably damaging Het
Gls A C 1: 52,259,198 (GRCm39) N134K probably benign Het
Hspg2 T C 4: 137,235,112 (GRCm39) V82A possibly damaging Het
Il33 G A 19: 29,927,137 (GRCm39) E23K probably benign Het
Macroh2a2 C A 10: 61,593,614 (GRCm39) V21F probably damaging Het
Map2k5 C A 9: 63,193,683 (GRCm39) A266S possibly damaging Het
Or13g1 T C 7: 85,956,226 (GRCm39) I32V probably benign Het
Or2t29 T A 11: 58,433,408 (GRCm39) N298I probably damaging Het
Or5p61 C T 7: 107,758,639 (GRCm39) C147Y probably benign Het
Pcdh1 G A 18: 38,330,490 (GRCm39) P838S probably benign Het
Pcdha5 A G 18: 37,095,768 (GRCm39) E759G possibly damaging Het
Pclo T C 5: 14,719,505 (GRCm39) I1214T unknown Het
Per3 T C 4: 151,113,662 (GRCm39) I299V probably benign Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Synpo2 A T 3: 122,873,881 (GRCm39) probably null Het
Sys1 G A 2: 164,306,438 (GRCm39) A131T probably benign Het
Tekt2 A G 4: 126,218,098 (GRCm39) L138P probably benign Het
Tmprss12 T A 15: 100,183,133 (GRCm39) N158K probably damaging Het
Tnrc18 A T 5: 142,717,923 (GRCm39) M2177K unknown Het
Trim43a T A 9: 88,464,395 (GRCm39) I102N probably damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Utrn C T 10: 12,317,837 (GRCm39) C498Y probably benign Het
Vmn1r39 A T 6: 66,781,841 (GRCm39) V159D probably damaging Het
Vmn1r44 A G 6: 89,870,562 (GRCm39) T103A probably benign Het
Wsb1 A T 11: 79,139,315 (GRCm39) V127D probably damaging Het
Zfp268 T A 4: 145,349,459 (GRCm39) C299S probably damaging 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
R1169:Fbxo44 UTSW 4 148,240,433 (GRCm39) missense probably benign 0.01
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
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 PCR Primer
(F):5'- TTTTCGAGAAGAACAGAGGGACA -3'
(R):5'- CAGGACTGAGTTGCCAGTTG -3'

Sequencing Primer
(F):5'- AAGTTCAAGGTCATCCCTGG -3'
(R):5'- AGTTGCCAGTTGATCAGTGAC -3'
Posted On 2018-11-09