Incidental Mutation 'R3856:Fbxo40'
ID 276184
Institutional Source Beutler Lab
Gene Symbol Fbxo40
Ensembl Gene ENSMUSG00000047746
Gene Name F-box protein 40
Synonyms 9830003A13Rik
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R3856 (G1)
Quality Score 190
Status Validated
Chromosome 16
Chromosomal Location 36783822-36810829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36789445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 555 (L555Q)
Ref Sequence ENSEMBL: ENSMUSP00000110454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075869] [ENSMUST00000114806]
AlphaFold P62932
Predicted Effect probably damaging
Transcript: ENSMUST00000075869
AA Change: L555Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: L555Q

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: L555Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: L555Q

DomainStartEndE-ValueType
PDB:2YRE|A 12 92 1e-27 PDB
SCOP:d1k2fa_ 62 97 5e-4 SMART
Blast:FBOX 578 616 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132511
Meta Mutation Damage Score 0.1874 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign Het
Other mutations in Fbxo40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Fbxo40 APN 16 36,790,816 (GRCm39) missense probably damaging 1.00
IGL02238:Fbxo40 APN 16 36,789,536 (GRCm39) missense possibly damaging 0.63
IGL02389:Fbxo40 APN 16 36,790,136 (GRCm39) missense probably benign 0.26
IGL02619:Fbxo40 APN 16 36,790,766 (GRCm39) missense possibly damaging 0.92
IGL02620:Fbxo40 APN 16 36,786,442 (GRCm39) missense probably benign 0.14
leuk UTSW 16 36,789,236 (GRCm39) missense probably damaging 1.00
R0532:Fbxo40 UTSW 16 36,789,984 (GRCm39) missense possibly damaging 0.92
R1016:Fbxo40 UTSW 16 36,789,539 (GRCm39) nonsense probably null
R1783:Fbxo40 UTSW 16 36,786,584 (GRCm39) missense probably damaging 0.99
R1832:Fbxo40 UTSW 16 36,789,218 (GRCm39) nonsense probably null
R1938:Fbxo40 UTSW 16 36,789,713 (GRCm39) missense probably damaging 0.98
R1974:Fbxo40 UTSW 16 36,790,303 (GRCm39) missense probably benign
R1995:Fbxo40 UTSW 16 36,790,231 (GRCm39) missense probably damaging 1.00
R4346:Fbxo40 UTSW 16 36,790,525 (GRCm39) missense probably benign 0.01
R4907:Fbxo40 UTSW 16 36,790,064 (GRCm39) missense probably benign 0.01
R5059:Fbxo40 UTSW 16 36,790,658 (GRCm39) missense possibly damaging 0.48
R5114:Fbxo40 UTSW 16 36,789,236 (GRCm39) missense probably damaging 1.00
R5361:Fbxo40 UTSW 16 36,789,914 (GRCm39) missense possibly damaging 0.62
R5721:Fbxo40 UTSW 16 36,789,296 (GRCm39) missense probably benign 0.06
R5724:Fbxo40 UTSW 16 36,790,692 (GRCm39) missense probably benign 0.18
R5808:Fbxo40 UTSW 16 36,790,744 (GRCm39) missense probably damaging 1.00
R6189:Fbxo40 UTSW 16 36,786,526 (GRCm39) missense probably benign 0.32
R6461:Fbxo40 UTSW 16 36,790,390 (GRCm39) missense probably benign 0.00
R6571:Fbxo40 UTSW 16 36,789,668 (GRCm39) missense probably damaging 1.00
R6598:Fbxo40 UTSW 16 36,789,376 (GRCm39) missense probably damaging 1.00
R6639:Fbxo40 UTSW 16 36,790,937 (GRCm39) missense probably damaging 1.00
R7017:Fbxo40 UTSW 16 36,790,732 (GRCm39) missense probably damaging 1.00
R7827:Fbxo40 UTSW 16 36,789,861 (GRCm39) missense probably damaging 1.00
R7889:Fbxo40 UTSW 16 36,790,012 (GRCm39) missense probably damaging 1.00
R8047:Fbxo40 UTSW 16 36,790,231 (GRCm39) missense probably damaging 1.00
R8293:Fbxo40 UTSW 16 36,790,387 (GRCm39) missense probably benign
R8297:Fbxo40 UTSW 16 36,789,670 (GRCm39) missense probably damaging 0.98
R8397:Fbxo40 UTSW 16 36,790,985 (GRCm39) missense probably damaging 1.00
R8423:Fbxo40 UTSW 16 36,790,947 (GRCm39) missense probably damaging 1.00
R8515:Fbxo40 UTSW 16 36,791,015 (GRCm39) missense probably damaging 1.00
R9064:Fbxo40 UTSW 16 36,791,002 (GRCm39) missense probably damaging 0.99
R9088:Fbxo40 UTSW 16 36,790,150 (GRCm39) missense
R9119:Fbxo40 UTSW 16 36,786,457 (GRCm39) missense probably damaging 0.99
R9278:Fbxo40 UTSW 16 36,789,940 (GRCm39) missense possibly damaging 0.94
R9339:Fbxo40 UTSW 16 36,789,286 (GRCm39) missense probably damaging 1.00
X0022:Fbxo40 UTSW 16 36,789,663 (GRCm39) missense probably benign 0.37
Z1176:Fbxo40 UTSW 16 36,789,961 (GRCm39) missense probably damaging 1.00
Z1177:Fbxo40 UTSW 16 36,790,624 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- CTTCCATTGCGAGAGGACCATC -3'
(R):5'- CCTGCACTTCAAGAATGTCCAC -3'

Sequencing Primer
(F):5'- CTCTCTTGCAACAAAGTGGC -3'
(R):5'- CTTCAAGAATGTCCACACTGAC -3'
Posted On 2015-04-06