Incidental Mutation 'R2857:Fbxo36'
ID 252445
Institutional Source Beutler Lab
Gene Symbol Fbxo36
Ensembl Gene ENSMUSG00000073633
Gene Name F-box protein 36
Synonyms 2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik
MMRRC Submission 040447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2857 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 84817562-84878208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84874316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 104 (K104R)
Ref Sequence ENSEMBL: ENSMUSP00000095276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097672]
AlphaFold Q9CQ24
Predicted Effect probably benign
Transcript: ENSMUST00000097672
AA Change: K104R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
AA Change: K104R

DomainStartEndE-ValueType
FBOX 97 137 1.58e-2 SMART
low complexity region 168 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151737
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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 FBXO36, 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330087D11Rik A T 7: 29,273,303 (GRCm39) noncoding transcript Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Bpifa6 G A 2: 153,831,194 (GRCm39) M253I probably benign Het
C330018D20Rik A G 18: 57,095,531 (GRCm39) L18P probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Ceacam1 T A 7: 25,173,442 (GRCm39) I249F probably damaging Het
Cfap54 C T 10: 92,881,144 (GRCm39) R348Q probably damaging Het
Cfap91 A C 16: 38,123,075 (GRCm39) L651R probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cuzd1 C T 7: 130,917,863 (GRCm39) V246M probably damaging Het
Ehd2 A T 7: 15,698,054 (GRCm39) V61E probably damaging Het
Erich5 C T 15: 34,471,560 (GRCm39) T263I probably damaging Het
Fibin C T 2: 110,192,542 (GRCm39) R200H probably damaging Het
Gad2 A C 2: 22,563,987 (GRCm39) M397L probably benign Het
Garin3 T C 11: 46,296,039 (GRCm39) I137T probably damaging Het
Iqgap3 C A 3: 88,014,903 (GRCm39) S873* probably null Het
Kcnh8 A G 17: 53,284,961 (GRCm39) D977G probably benign Het
Mau2 T C 8: 70,472,474 (GRCm39) M570V probably benign Het
Mrgprb4 T A 7: 47,848,084 (GRCm39) R281S possibly damaging Het
Mthfd1 T C 12: 76,335,699 (GRCm39) Y258H probably damaging Het
Nexn C T 3: 151,953,680 (GRCm39) E247K probably damaging Het
Or11g27 T A 14: 50,770,897 (GRCm39) N9K probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Phrf1 T A 7: 140,839,593 (GRCm39) probably benign Het
Prc1 A G 7: 79,961,969 (GRCm39) N52S probably damaging Het
Psd G C 19: 46,312,859 (GRCm39) S170R probably benign Het
Riok1 T C 13: 38,233,053 (GRCm39) F229L probably damaging Het
Slco1a7 A G 6: 141,690,264 (GRCm39) V163A probably benign Het
Stat2 A G 10: 128,112,770 (GRCm39) probably null Het
Sycp3 A G 10: 88,303,234 (GRCm39) E166G probably damaging Het
Szt2 G A 4: 118,226,599 (GRCm39) T510I probably damaging Het
Trank1 A T 9: 111,196,001 (GRCm39) T1342S probably benign Het
Trav3-1 C A 14: 52,818,515 (GRCm39) A63E probably benign Het
Trim34b A T 7: 103,985,439 (GRCm39) N358I probably benign Het
Trmt11 G C 10: 30,423,744 (GRCm39) P387R probably damaging Het
Vmn2r82 T A 10: 79,217,090 (GRCm39) I474N probably damaging Het
Vrk2 C A 11: 26,433,324 (GRCm39) S286I possibly damaging Het
Wdfy3 A T 5: 102,023,796 (GRCm39) I2451N probably benign Het
Zfp326 G A 5: 106,036,395 (GRCm39) R102H probably benign Het
Other mutations in Fbxo36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02032:Fbxo36 APN 1 84,874,387 (GRCm39) splice site probably benign
IGL02184:Fbxo36 APN 1 84,858,885 (GRCm39) missense probably benign 0.00
R1551:Fbxo36 UTSW 1 84,858,835 (GRCm39) missense probably damaging 1.00
R1621:Fbxo36 UTSW 1 84,817,595 (GRCm39) start codon destroyed probably null 0.99
R2005:Fbxo36 UTSW 1 84,877,790 (GRCm39) missense probably benign 0.16
R2403:Fbxo36 UTSW 1 84,877,823 (GRCm39) missense probably damaging 0.99
R2858:Fbxo36 UTSW 1 84,874,316 (GRCm39) missense probably benign 0.00
R4618:Fbxo36 UTSW 1 84,877,749 (GRCm39) missense probably damaging 1.00
R6207:Fbxo36 UTSW 1 84,874,251 (GRCm39) nonsense probably null
R7472:Fbxo36 UTSW 1 84,874,301 (GRCm39) missense probably damaging 1.00
R9045:Fbxo36 UTSW 1 84,874,300 (GRCm39) missense probably damaging 1.00
R9353:Fbxo36 UTSW 1 84,874,259 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGAGAGACTGGGTCTGTGATACTC -3'
(R):5'- GCTTCCATGGGCACTACATG -3'

Sequencing Primer
(F):5'- GGTCTGTGATACTCCCTGAAGC -3'
(R):5'- CACAAAGGTGGGCAAAACAC -3'
Posted On 2014-12-04