Incidental Mutation 'R7827:Fbxo40'
ID 602285
Institutional Source Beutler Lab
Gene Symbol Fbxo40
Ensembl Gene ENSMUSG00000047746
Gene Name F-box protein 40
Synonyms 9830003A13Rik
MMRRC Submission 045881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R7827 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 36783822-36810829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36789861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 416 (E416D)
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: E416D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: E416D

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: E416D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: E416D

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: 99.8%
  • 20x: 99.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,651,112 (GRCm39) N78S probably damaging Het
Abca12 G A 1: 71,453,837 (GRCm39) probably benign Het
Abcb1b T C 5: 8,887,747 (GRCm39) S878P probably damaging Het
Adamts20 T C 15: 94,223,814 (GRCm39) R1305G probably damaging Het
Adcy2 A T 13: 68,837,400 (GRCm39) C650S probably damaging Het
Ahnak A T 19: 8,982,708 (GRCm39) K1331* probably null Het
Alpk1 A T 3: 127,473,700 (GRCm39) S768T probably benign Het
Ap4b1 T G 3: 103,722,398 (GRCm39) L124R probably damaging Het
Arrdc2 A T 8: 71,292,038 (GRCm39) F3Y probably damaging Het
Atp9a A G 2: 168,547,114 (GRCm39) V155A probably benign Het
Bptf A G 11: 106,938,013 (GRCm39) S87P probably benign Het
Carmil1 A T 13: 24,220,421 (GRCm39) M697K probably benign Het
Ccdc42 G A 11: 68,485,022 (GRCm39) V32M probably benign Het
Cert1 A G 13: 96,753,563 (GRCm39) H391R probably damaging Het
Ces1d A G 8: 93,924,294 (GRCm39) probably null Het
Dcpp2 T G 17: 24,119,566 (GRCm39) Y127D probably damaging Het
Def8 C A 8: 124,174,060 (GRCm39) T7K probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
En2 G A 5: 28,371,594 (GRCm39) G24S probably benign Het
Evi2a T C 11: 79,418,688 (GRCm39) probably benign Het
Fam117b A T 1: 59,952,837 (GRCm39) H172L possibly damaging Het
Fam169b A G 7: 67,954,338 (GRCm39) I67M probably benign Het
Gja8 T A 3: 96,827,635 (GRCm39) N9I possibly damaging Het
Gsg1l2 T A 11: 67,676,097 (GRCm39) C154S probably benign Het
Hdhd3 C A 4: 62,418,232 (GRCm39) probably benign Het
Hunk C T 16: 90,278,214 (GRCm39) P341L possibly damaging Het
Ighv8-5 T C 12: 115,031,258 (GRCm39) T94A possibly damaging Het
Ints3 T C 3: 90,331,319 (GRCm39) N75D probably benign Het
Krt39 T C 11: 99,409,901 (GRCm39) E212G probably damaging Het
Ldlrad4 A G 18: 68,387,495 (GRCm39) H269R probably damaging Het
Lrrc2 T A 9: 110,790,049 (GRCm39) V102E possibly damaging Het
Ltbp2 T A 12: 84,836,655 (GRCm39) I1292L probably benign Het
Mad2l1bp A T 17: 46,458,993 (GRCm39) V179E possibly damaging Het
Map3k1 A G 13: 111,892,663 (GRCm39) V864A probably benign Het
Mapk8ip2 T G 15: 89,342,322 (GRCm39) V511G probably damaging Het
Mknk2 A C 10: 80,503,021 (GRCm39) S434A probably benign Het
Mllt11 A G 3: 95,127,548 (GRCm39) F74S probably damaging Het
Muc16 G T 9: 18,506,519 (GRCm39) T6412K possibly damaging Het
Nek5 C A 8: 22,573,403 (GRCm39) A518S possibly damaging Het
Npy1r T C 8: 67,156,864 (GRCm39) F95L possibly damaging Het
Nup98 G A 7: 101,773,569 (GRCm39) T1586I probably benign Het
Olig3 A T 10: 19,232,518 (GRCm39) M48L probably benign Het
Or13n4 A G 7: 106,422,932 (GRCm39) M267T probably benign Het
Or14j7 T A 17: 38,234,568 (GRCm39) L37* probably null Het
Or5b120 T G 19: 13,480,587 (GRCm39) N293K probably damaging Het
Or6aa1 T A 7: 86,043,765 (GRCm39) K314* probably null Het
Pcdhb16 A G 18: 37,611,904 (GRCm39) D288G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phip T C 9: 82,790,886 (GRCm39) I687V probably benign Het
Piezo1 G A 8: 123,209,659 (GRCm39) T2348M probably damaging Het
Plod3 A G 5: 137,018,835 (GRCm39) T291A probably benign Het
Pmpca G A 2: 26,280,144 (GRCm39) V89I possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Pou6f2 C A 13: 18,553,092 (GRCm39) A81S Het
Ppl T A 16: 4,905,828 (GRCm39) E1489V probably damaging Het
Ptpdc1 A G 13: 48,733,264 (GRCm39) F792S probably damaging Het
Pus1 A G 5: 110,927,582 (GRCm39) Y58H probably damaging Het
Rex2 C A 4: 147,142,547 (GRCm39) T345N possibly damaging Het
Rnf144a T C 12: 26,389,439 (GRCm39) M1V probably null Het
Siglec15 A T 18: 78,100,445 (GRCm39) C13* probably null Het
Skint10 G A 4: 112,632,003 (GRCm39) Q6* probably null Het
Slc5a1 T C 5: 33,304,057 (GRCm39) W291R probably damaging Het
Snx27 A G 3: 94,426,366 (GRCm39) F378L probably benign Het
Strip2 A T 6: 29,923,928 (GRCm39) T81S probably benign Het
Tas2r143 A G 6: 42,377,656 (GRCm39) N162S probably damaging Het
Tatdn1 T C 15: 58,776,607 (GRCm39) D256G probably benign Het
Tbc1d5 A G 17: 51,089,291 (GRCm39) S630P probably damaging Het
Tlr11 A G 14: 50,598,611 (GRCm39) D199G probably benign Het
Tmed8 C A 12: 87,246,991 (GRCm39) probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 TAA TAAAGCAA 6: 113,376,123 (GRCm39) probably null Het
U2af2 T C 7: 5,077,661 (GRCm39) probably null Het
Ywhag C T 5: 135,940,394 (GRCm39) E67K probably damaging Het
Zfp105 A G 9: 122,759,808 (GRCm39) H493R probably damaging Het
Zfp426 A T 9: 20,381,446 (GRCm39) C514S probably damaging Het
Zfp536 T A 7: 37,269,113 (GRCm39) D101V probably damaging 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
R3856:Fbxo40 UTSW 16 36,789,445 (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
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'- AGAATTTGTTGCAGGTGAACG -3'
(R):5'- AAGATTCCCGTGAGCTACTGC -3'

Sequencing Primer
(F):5'- TTTGTTGCAGGTGAACGTAAAAGC -3'
(R):5'- CGTGAGCTACTGCGGGAAG -3'
Posted On 2019-12-03