Incidental Mutation 'R7085:Fbxo44'
ID 549816
Institutional Source Beutler Lab
Gene Symbol Fbxo44
Ensembl Gene ENSMUSG00000029001
Gene Name F-box protein 44
Synonyms Fbx6a, Fbxo6a, FBG3, FBX30
MMRRC Submission 045179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7085 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148237256-148244663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148243200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 20 (H20L)
Ref Sequence ENSEMBL: ENSMUSP00000134064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047951] [ENSMUST00000057907] [ENSMUST00000105705] [ENSMUST00000122913] [ENSMUST00000129253] [ENSMUST00000151127] [ENSMUST00000151246] [ENSMUST00000167160] [ENSMUST00000172472] [ENSMUST00000173352]
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 damaging
Transcript: ENSMUST00000057907
AA Change: H20L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 252 2.24e-110 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105705
AA Change: H20L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 196 2.79e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122913
AA Change: H20L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
Pfam:FBA 68 115 3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129253
AA Change: H20L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 213 1.15e-57 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151127
AA Change: H20L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 235 4.09e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151246
AA Change: H20L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: H20L

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 damaging
Transcript: ENSMUST00000167160
AA Change: H20L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
FBA 68 252 2.24e-110 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172472
AA Change: H20L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001
AA Change: H20L

DomainStartEndE-ValueType
FBOX 9 50 1.37e-2 SMART
Pfam:FBA 68 126 3.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173352
AA Change: H73L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: H73L

DomainStartEndE-ValueType
FBOX 62 103 1.37e-2 SMART
FBA 121 254 3.86e-50 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Blzf1 T C 1: 164,129,893 (GRCm39) D153G probably damaging Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Prex2 A T 1: 11,168,812 (GRCm39) R269S possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rsph10b A T 5: 143,886,102 (GRCm39) T267S possibly damaging Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Scn3b T C 9: 40,188,394 (GRCm39) V29A probably damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tns1 G A 1: 73,964,621 (GRCm39) P81S probably benign Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V 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
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)
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'- TGTTGAGGCATACTCTCCGC -3'
(R):5'- GAGTTGGGAATCTCTCTATCCCTG -3'

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