Incidental Mutation 'R7142:Fbxo44'
ID 553458
Institutional Source Beutler Lab
Gene Symbol Fbxo44
Ensembl Gene ENSMUSG00000029001
Gene Name F-box protein 44
Synonyms Fbx6a, Fbxo6a, FBG3, FBX30
MMRRC Submission 045250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7142 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148237256-148244663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 148243269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 50 (G50E)
Ref Sequence ENSEMBL: ENSMUSP00000134624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047951] [ENSMUST00000057907] [ENSMUST00000105705] [ENSMUST00000122913] [ENSMUST00000129253] [ENSMUST00000151127] [ENSMUST00000173352] [ENSMUST00000151246] [ENSMUST00000167160] [ENSMUST00000172472]
AlphaFold no structure available at present
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: 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: 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: 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: ENSMUST00000151127
SMART Domains Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 235 4.09e-63 SMART
Predicted Effect unknown
Transcript: ENSMUST00000173352
AA Change: G50E
SMART Domains Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: G50E

DomainStartEndE-ValueType
FBOX 62 103 1.37e-2 SMART
FBA 121 254 3.86e-50 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: ENSMUST00000153703
SMART Domains Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBA 1 143 3.11e-54 SMART
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: ENSMUST00000172472
SMART Domains Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
Pfam:FBA 68 126 3.4e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,446 (GRCm39) H290L probably damaging Het
Abca1 T A 4: 53,082,050 (GRCm39) S737C probably damaging Het
Abca14 G C 7: 119,850,406 (GRCm39) V753L possibly damaging Het
Adgrl1 C T 8: 84,663,829 (GRCm39) H1099Y probably benign Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Aldh1l1 G A 6: 90,540,398 (GRCm39) D228N probably damaging Het
Cacna1e G T 1: 154,288,230 (GRCm39) Q1883K probably damaging Het
Caskin2 A G 11: 115,697,562 (GRCm39) Y125H probably benign Het
Ccdc85a A T 11: 28,527,192 (GRCm39) Y139N probably damaging Het
Cd93 C T 2: 148,283,725 (GRCm39) W540* probably null Het
Cdh3 G A 8: 107,271,860 (GRCm39) probably null Het
Chmp2b G A 16: 65,343,794 (GRCm39) Q88* probably null Het
Cpt1a T C 19: 3,425,100 (GRCm39) M489T probably benign Het
Ctsk G A 3: 95,414,259 (GRCm39) V274M possibly damaging Het
Cyp3a44 A G 5: 145,714,771 (GRCm39) V460A probably benign Het
Cypt4 C T 9: 24,536,740 (GRCm39) R77* probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah7a A T 1: 53,452,927 (GRCm39) Y3850* probably null Het
Drosha A T 15: 12,924,232 (GRCm39) T1205S possibly damaging Het
Eif3j2 T C 18: 43,610,465 (GRCm39) E116G probably damaging Het
Ercc5 A G 1: 44,213,374 (GRCm39) E790G probably damaging Het
Fam163b C T 2: 27,003,567 (GRCm39) R29Q probably damaging Het
Foxo3 T C 10: 42,150,591 (GRCm39) probably null Het
Gnal C T 18: 67,351,599 (GRCm39) P386L probably damaging Het
Gpc5 T A 14: 115,654,615 (GRCm39) H478Q probably benign Het
Grhl2 A T 15: 37,279,826 (GRCm39) D178V probably benign Het
Gtf2i C A 5: 134,273,705 (GRCm39) V755L possibly damaging Het
Hal T C 10: 93,336,513 (GRCm39) V414A possibly damaging Het
Hmx2 T C 7: 131,157,465 (GRCm39) V193A probably damaging Het
Il17a T A 1: 20,802,327 (GRCm39) M12K probably benign Het
Invs T A 4: 48,407,696 (GRCm39) I557N probably damaging Het
Kng1 T A 16: 22,898,170 (GRCm39) H523Q probably benign Het
Lrp4 T A 2: 91,325,339 (GRCm39) I1388N probably damaging Het
Mboat4 A G 8: 34,587,291 (GRCm39) I63V probably benign Het
Mcoln2 G A 3: 145,889,324 (GRCm39) probably null Het
Mgat5 A T 1: 127,339,924 (GRCm39) D435V probably damaging Het
Mri1 C A 8: 84,983,753 (GRCm39) R46L probably damaging Het
Mxra8 A T 4: 155,927,519 (GRCm39) Y409F probably benign Het
Nlrp1b T A 11: 71,062,901 (GRCm39) R720* probably null Het
Ofcc1 T C 13: 40,157,538 (GRCm39) I887V probably benign Het
Or5l13 T C 2: 87,780,056 (GRCm39) I174V probably benign Het
Otud4 T A 8: 80,399,391 (GRCm39) probably null Het
P3h1 T A 4: 119,104,358 (GRCm39) D626E probably benign Het
Pde2a A T 7: 101,153,857 (GRCm39) D485V probably damaging Het
Phldb2 G A 16: 45,577,539 (GRCm39) R1129* probably null Het
Pkn1 T C 8: 84,420,596 (GRCm39) E10G possibly damaging Het
Psd2 A G 18: 36,113,097 (GRCm39) D264G possibly damaging Het
Psg29 A G 7: 16,944,546 (GRCm39) D352G probably damaging Het
Rgs14 T C 13: 55,527,417 (GRCm39) S218P probably damaging Het
Sec14l2 T C 11: 4,048,379 (GRCm39) T380A probably benign Het
Septin12 T C 16: 4,806,226 (GRCm39) T312A unknown Het
Skint5 A T 4: 113,428,791 (GRCm39) V1075E unknown Het
Ston2 A G 12: 91,614,009 (GRCm39) S800P probably damaging Het
Tmem106b A G 6: 13,081,564 (GRCm39) N157S probably damaging Het
Tmem132b G A 5: 125,699,737 (GRCm39) G133S probably damaging Het
Tmie A T 9: 110,699,749 (GRCm39) M55K possibly damaging Het
Trpc6 A T 9: 8,653,017 (GRCm39) R608* probably null Het
Unc93a2 G A 17: 7,644,021 (GRCm39) T96I probably damaging Het
Usp35 A G 7: 96,960,754 (GRCm39) S891P probably damaging Het
Vmn1r178 A G 7: 23,593,035 (GRCm39) T28A probably damaging Het
Wnk1 T A 6: 119,926,240 (GRCm39) M1324L probably benign Het
Wrnip1 C A 13: 32,986,616 (GRCm39) S132R possibly damaging Het
Wsb1 T C 11: 79,141,814 (GRCm39) K68E probably benign Het
Zfp433 A T 10: 81,556,040 (GRCm39) K181* probably null 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
R6498:Fbxo44 UTSW 4 148,238,882 (GRCm39)
R7085:Fbxo44 UTSW 4 148,243,200 (GRCm39) missense probably damaging 0.98
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'- TGATGAAGCCCTCTTGAAGG -3'
(R):5'- CCATGCACCTTGAGCTTCTAGTG -3'

Sequencing Primer
(F):5'- GAAGCCCTCTTGAAGGCACTTG -3'
(R):5'- CTTGAGCTTCTAGTGACCCAGGAG -3'
Posted On 2019-05-15