Incidental Mutation 'R7838:Fbxo22'
ID 606106
Institutional Source Beutler Lab
Gene Symbol Fbxo22
Ensembl Gene ENSMUSG00000032309
Gene Name F-box protein 22
Synonyms 0610033L19Rik, 1600016C16Rik
MMRRC Submission 045892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7838 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55116219-55131717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55125651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 171 (E171D)
Ref Sequence ENSEMBL: ENSMUSP00000034859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034859] [ENSMUST00000130158] [ENSMUST00000133795] [ENSMUST00000137675] [ENSMUST00000140375] [ENSMUST00000145784] [ENSMUST00000146201] [ENSMUST00000153970] [ENSMUST00000164721]
AlphaFold Q78JE5
Predicted Effect probably damaging
Transcript: ENSMUST00000034859
AA Change: E171D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309
AA Change: E171D

DomainStartEndE-ValueType
Pfam:F-box 22 66 1.7e-6 PFAM
FIST_C 231 365 2.61e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130158
SMART Domains Protein: ENSMUSP00000115247
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133795
AA Change: E68D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000137675
Predicted Effect probably benign
Transcript: ENSMUST00000140375
SMART Domains Protein: ENSMUSP00000117341
Gene: ENSMUSG00000032309

DomainStartEndE-ValueType
Pfam:F-box 21 66 3e-8 PFAM
Pfam:F-box-like 26 66 4.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145784
SMART Domains Protein: ENSMUSP00000115851
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
Blast:EGF 8 35 9e-13 BLAST
SCOP:d1jl9a_ 9 35 6e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146201
AA Change: E68D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309
AA Change: E68D

DomainStartEndE-ValueType
FIST_C 128 262 2.61e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153970
Predicted Effect probably benign
Transcript: ENSMUST00000164721
SMART Domains Protein: ENSMUSP00000130929
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (64/65)
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 and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G A 10: 87,042,061 (GRCm39) probably null Het
4930522H14Rik G A 4: 109,362,776 (GRCm39) A181V probably damaging Het
Alk A T 17: 72,274,549 (GRCm39) H587Q possibly damaging Het
Ascc3 A G 10: 50,604,393 (GRCm39) Y1371C probably benign Het
Asxl1 T C 2: 153,238,733 (GRCm39) F354S probably damaging Het
Cachd1 A T 4: 100,824,211 (GRCm39) I551F possibly damaging Het
Cacna1e T C 1: 154,347,149 (GRCm39) E1068G probably benign Het
Cdc27 A T 11: 104,403,830 (GRCm39) M644K probably damaging Het
Chl1 T C 6: 103,668,635 (GRCm39) V456A probably benign Het
Ctxn1 A G 8: 4,308,461 (GRCm39) Y57H probably damaging Het
Cyp2c54 A G 19: 40,058,688 (GRCm39) I248T probably benign Het
Dchs2 A G 3: 83,211,834 (GRCm39) T1878A probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Dennd5a G T 7: 109,533,196 (GRCm39) F191L probably benign Het
Dnm3 C T 1: 161,819,619 (GRCm39) R851H possibly damaging Het
Eif3l G A 15: 78,973,799 (GRCm39) D405N possibly damaging Het
Espn T A 4: 152,215,738 (GRCm39) D507V possibly damaging Het
Fam83f A T 15: 80,576,704 (GRCm39) S452C possibly damaging Het
Fgl2 T C 5: 21,577,752 (GRCm39) V13A probably benign Het
Fsip2 A G 2: 82,807,044 (GRCm39) H1121R probably benign Het
G0s2 A T 1: 192,955,081 (GRCm39) M1K probably null Het
Gnptab G A 10: 88,276,254 (GRCm39) probably null Het
Grm1 G A 10: 10,956,096 (GRCm39) P63S probably benign Het
Grsf1 G A 5: 88,823,523 (GRCm39) probably benign Het
Hcfc1r1 G A 17: 23,892,985 (GRCm39) G10D probably damaging Het
Hdac1-ps A C 17: 78,799,447 (GRCm39) E146A probably damaging Het
Igsf11 T C 16: 38,827,565 (GRCm39) V41A possibly damaging Het
Il17a C A 1: 20,802,351 (GRCm39) A20E probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kmt2c A G 5: 25,499,697 (GRCm39) M481T possibly damaging Het
Krt40 A T 11: 99,430,961 (GRCm39) C263S possibly damaging Het
Larp1 T C 11: 57,938,540 (GRCm39) V441A possibly damaging Het
Lrwd1 T C 5: 136,160,983 (GRCm39) E300G probably damaging Het
Mcoln3 G T 3: 145,845,230 (GRCm39) W475C probably damaging Het
Mdga1 A G 17: 30,058,796 (GRCm39) I30T probably benign Het
Mmd T A 11: 90,158,433 (GRCm39) V181D probably benign Het
Muc4 T A 16: 32,752,558 (GRCm38) L812* probably null Het
Mycbp2 T C 14: 103,414,729 (GRCm39) D2561G probably benign Het
Myh11 T A 16: 14,027,481 (GRCm39) E1251V Het
Myl12a G T 17: 71,303,166 (GRCm39) N95K probably benign Het
Myo1h A G 5: 114,466,872 (GRCm39) probably null Het
Myrf G A 19: 10,196,983 (GRCm39) P266S possibly damaging Het
Ncf1 A G 5: 134,250,949 (GRCm39) V330A possibly damaging Het
Nfasc T C 1: 132,533,287 (GRCm39) D638G probably damaging Het
Nkapl T C 13: 21,651,437 (GRCm39) K392R possibly damaging Het
Or2y3 A G 17: 38,393,293 (GRCm39) V192A probably benign Het
Or6a2 A T 7: 106,600,514 (GRCm39) C184* probably null Het
Or8b50 A G 9: 38,517,708 (GRCm39) probably benign Het
Pelo T A 13: 115,226,184 (GRCm39) N91I probably damaging Het
Ptk2b T C 14: 66,395,850 (GRCm39) N836D probably benign Het
Pwp2 A T 10: 78,018,778 (GRCm39) probably null Het
Slc44a1 G A 4: 53,517,657 (GRCm39) V127I probably benign Het
Snx13 A G 12: 35,155,174 (GRCm39) T413A probably benign Het
Spaca7 C T 8: 12,635,696 (GRCm39) P71S probably damaging Het
Spef2 A T 15: 9,609,637 (GRCm39) M1296K possibly damaging Het
Suco G A 1: 161,656,890 (GRCm39) A978V probably benign Het
Tcerg1 A G 18: 42,670,002 (GRCm39) E494G probably benign Het
Tenm2 A G 11: 35,997,626 (GRCm39) V821A probably benign Het
Tg T A 15: 66,565,112 (GRCm39) D1151E probably benign Het
Trp53bp2 A G 1: 182,283,384 (GRCm39) E1040G probably damaging Het
Ubap2 A T 4: 41,233,655 (GRCm39) N79K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Yars2 T G 16: 16,122,385 (GRCm39) probably null Het
Ylpm1 A G 12: 85,095,640 (GRCm39) I1847V possibly damaging Het
Other mutations in Fbxo22
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4342:Fbxo22 UTSW 9 55,128,354 (GRCm39) splice site probably null
FR4737:Fbxo22 UTSW 9 55,116,666 (GRCm39) missense probably damaging 1.00
R0112:Fbxo22 UTSW 9 55,130,630 (GRCm39) missense probably benign 0.00
R0414:Fbxo22 UTSW 9 55,130,910 (GRCm39) missense possibly damaging 0.86
R0634:Fbxo22 UTSW 9 55,122,244 (GRCm39) missense probably benign 0.43
R0694:Fbxo22 UTSW 9 55,128,423 (GRCm39) missense probably damaging 0.99
R1799:Fbxo22 UTSW 9 55,130,771 (GRCm39) missense probably benign 0.00
R1958:Fbxo22 UTSW 9 55,116,626 (GRCm39) splice site probably null
R2060:Fbxo22 UTSW 9 55,125,667 (GRCm39) missense probably damaging 0.97
R2850:Fbxo22 UTSW 9 55,130,699 (GRCm39) missense probably damaging 1.00
R3883:Fbxo22 UTSW 9 55,130,546 (GRCm39) missense probably benign
R4649:Fbxo22 UTSW 9 55,128,333 (GRCm39) missense probably damaging 1.00
R5829:Fbxo22 UTSW 9 55,125,596 (GRCm39) splice site probably null
R7260:Fbxo22 UTSW 9 55,125,754 (GRCm39) missense probably benign 0.00
R7329:Fbxo22 UTSW 9 55,122,261 (GRCm39) missense probably benign 0.01
R7921:Fbxo22 UTSW 9 55,125,637 (GRCm39) missense probably benign 0.18
R8313:Fbxo22 UTSW 9 55,128,344 (GRCm39) missense probably damaging 1.00
R8385:Fbxo22 UTSW 9 55,121,233 (GRCm39) missense probably damaging 1.00
R9230:Fbxo22 UTSW 9 55,116,442 (GRCm39) missense probably damaging 1.00
R9401:Fbxo22 UTSW 9 55,130,628 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TAGGAGAAGCTGTTTGATGGCC -3'
(R):5'- TAGCTGGCCAGAACTAAAACAG -3'

Sequencing Primer
(F):5'- GTTTGATGGCCTGCCCTGC -3'
(R):5'- GTGTAGGCATGCACTTTTAAACCCAG -3'
Posted On 2019-12-20