Incidental Mutation 'R8297:Fbxo40'
ID639040
Institutional Source Beutler Lab
Gene Symbol Fbxo40
Ensembl Gene ENSMUSG00000047746
Gene NameF-box protein 40
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R8297 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location36963460-36990467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36969308 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 480 (T480I)
Ref Sequence ENSEMBL: ENSMUSP00000075266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075869] [ENSMUST00000114806]
Predicted Effect probably damaging
Transcript: ENSMUST00000075869
AA Change: T480I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: T480I

DomainStartEndE-ValueType
Pfam:zf-TRAF_2 12 104 6.1e-42 PFAM
Pfam:F-box_4 571 686 1.2e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114806
AA Change: T480I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: T480I

DomainStartEndE-ValueType
PDB:2YRE|A 12 92 1e-27 PDB
SCOP:d1k2fa_ 62 97 5e-4 SMART
Blast:FBOX 578 616 1e-8 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T C 10: 21,621,679 L73P probably damaging Het
4933412E24Rik T G 15: 60,015,675 R305S probably damaging Het
Adamts19 T A 18: 58,837,848 V168E probably damaging Het
Ankrd34b T A 13: 92,439,589 L443Q probably damaging Het
Ano3 A G 2: 110,661,271 Y887H probably damaging Het
Arhgef2 A T 3: 88,639,432 H553L probably benign Het
Atxn1 G T 13: 45,567,029 N463K probably benign Het
Birc6 A G 17: 74,625,104 probably null Het
C4bp A G 1: 130,636,745 S401P probably damaging Het
Cd5 T A 19: 10,720,245 R457W probably damaging Het
Chek2 T G 5: 110,848,436 Y127D probably damaging Het
Clec4a1 G A 6: 122,922,001 V10M probably damaging Het
Cltc A G 11: 86,712,631 Y790H probably damaging Het
Cops2 T C 2: 125,859,108 probably benign Het
Cyb5d2 A G 11: 72,789,103 F122S probably damaging Het
Daam1 T A 12: 71,951,915 L548H unknown Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Dsg1a A C 18: 20,332,033 N427T probably benign Het
Ear14 A T 14: 51,204,107 D140V probably damaging Het
Epha4 A C 1: 77,506,910 F154C probably damaging Het
Ets2 G A 16: 95,706,454 V12M probably damaging Het
Fdps A T 3: 89,093,741 Y322N probably damaging Het
Gca T C 2: 62,686,356 M132T probably benign Het
Ifi203 T G 1: 173,937,930 K26T probably damaging Het
Itga10 A G 3: 96,654,800 R668G probably damaging Het
Itgal T C 7: 127,330,466 I1185T unknown Het
Kcnj13 A T 1: 87,386,467 N344K probably damaging Het
Kdm5a A T 6: 120,381,555 L186F probably benign Het
Klhl8 T C 5: 103,863,088 N624D probably benign Het
Klrb1 G T 6: 128,712,259 T83K possibly damaging Het
Krt77 TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 15: 101,859,972 probably benign Het
Ltb G T 17: 35,194,679 R53L probably benign Het
Mterf3 A G 13: 66,907,158 V69A Het
Mvb12a A G 8: 71,545,244 K101E probably damaging Het
Nbeal2 T A 9: 110,635,341 Q1110L possibly damaging Het
Neb T A 2: 52,308,763 T389S possibly damaging Het
Nol4 A G 18: 23,040,012 F11L probably damaging Het
Olfr132 A G 17: 38,130,593 S200P probably damaging Het
Olfr441 A G 6: 43,116,506 I255V probably benign Het
Olfr675 C T 7: 105,024,678 G97R probably benign Het
Olfr9 T C 10: 128,990,839 L309P possibly damaging Het
Pde2a T A 7: 101,504,673 Y487N possibly damaging Het
Pde4a C T 9: 21,166,108 P61S possibly damaging Het
Pramef25 T A 4: 143,949,120 T379S probably benign Het
Prr5l A G 2: 101,741,285 probably null Het
Ptpn6 G A 6: 124,728,651 T179I possibly damaging Het
Ralyl T C 3: 14,039,776 S34P probably benign Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Robo2 A T 16: 74,015,926 C293* probably null Het
Rtn4 T G 11: 29,705,536 D169E probably damaging Het
Slc22a22 A T 15: 57,259,110 V157E probably damaging Het
Sytl2 A G 7: 90,385,075 T498A probably benign Het
Tgm6 G A 2: 130,137,438 V163I probably benign Het
Tnpo3 A T 6: 29,582,303 C187S possibly damaging Het
Ttn A G 2: 76,786,141 probably null Het
Vangl2 C A 1: 172,009,946 V99F possibly damaging Het
Vmn1r167 C T 7: 23,504,790 C267Y probably damaging Het
Vsig10l T C 7: 43,464,107 V161A possibly damaging Het
Xrcc5 G A 1: 72,325,085 R232Q possibly damaging Het
Xrcc6 C G 15: 82,029,262 F365L probably damaging Het
Zcchc11 G A 4: 108,479,708 A210T possibly damaging Het
Zdhhc13 A G 7: 48,815,509 Y389C probably damaging Het
Other mutations in Fbxo40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Fbxo40 APN 16 36970454 missense probably damaging 1.00
IGL02238:Fbxo40 APN 16 36969174 missense possibly damaging 0.63
IGL02389:Fbxo40 APN 16 36969774 missense probably benign 0.26
IGL02619:Fbxo40 APN 16 36970404 missense possibly damaging 0.92
IGL02620:Fbxo40 APN 16 36966080 missense probably benign 0.14
leuk UTSW 16 36968874 missense probably damaging 1.00
R0532:Fbxo40 UTSW 16 36969622 missense possibly damaging 0.92
R1016:Fbxo40 UTSW 16 36969177 nonsense probably null
R1783:Fbxo40 UTSW 16 36966222 missense probably damaging 0.99
R1832:Fbxo40 UTSW 16 36968856 nonsense probably null
R1938:Fbxo40 UTSW 16 36969351 missense probably damaging 0.98
R1974:Fbxo40 UTSW 16 36969941 missense probably benign
R1995:Fbxo40 UTSW 16 36969869 missense probably damaging 1.00
R3856:Fbxo40 UTSW 16 36969083 missense probably damaging 1.00
R4346:Fbxo40 UTSW 16 36970163 missense probably benign 0.01
R4907:Fbxo40 UTSW 16 36969702 missense probably benign 0.01
R5059:Fbxo40 UTSW 16 36970296 missense possibly damaging 0.48
R5114:Fbxo40 UTSW 16 36968874 missense probably damaging 1.00
R5361:Fbxo40 UTSW 16 36969552 missense possibly damaging 0.62
R5721:Fbxo40 UTSW 16 36968934 missense probably benign 0.06
R5724:Fbxo40 UTSW 16 36970330 missense probably benign 0.18
R5808:Fbxo40 UTSW 16 36970382 missense probably damaging 1.00
R6189:Fbxo40 UTSW 16 36966164 missense probably benign 0.32
R6461:Fbxo40 UTSW 16 36970028 missense probably benign 0.00
R6571:Fbxo40 UTSW 16 36969306 missense probably damaging 1.00
R6598:Fbxo40 UTSW 16 36969014 missense probably damaging 1.00
R6639:Fbxo40 UTSW 16 36970575 missense probably damaging 1.00
R7017:Fbxo40 UTSW 16 36970370 missense probably damaging 1.00
R7827:Fbxo40 UTSW 16 36969499 missense probably damaging 1.00
R7889:Fbxo40 UTSW 16 36969650 missense probably damaging 1.00
R8047:Fbxo40 UTSW 16 36969869 missense probably damaging 1.00
R8293:Fbxo40 UTSW 16 36970025 missense probably benign
R8397:Fbxo40 UTSW 16 36970623 missense probably damaging 1.00
R8423:Fbxo40 UTSW 16 36970585 missense probably damaging 1.00
R8515:Fbxo40 UTSW 16 36970653 missense probably damaging 1.00
X0022:Fbxo40 UTSW 16 36969301 missense probably benign 0.37
Z1176:Fbxo40 UTSW 16 36969599 missense probably damaging 1.00
Z1177:Fbxo40 UTSW 16 36970262 missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TGGCAAAGGTCTTCAGCTCC -3'
(R):5'- CATCTCTGAATCCAGGAGCATCG -3'

Sequencing Primer
(F):5'- GCTCCTGGCTATAGATCACTTTTG -3'
(R):5'- AGCATCGATGGACTCTTTATGGACC -3'
Posted On2020-07-28