Incidental Mutation 'R9273:Fbxo21'
ID 703079
Institutional Source Beutler Lab
Gene Symbol Fbxo21
Ensembl Gene ENSMUSG00000032898
Gene Name F-box protein 21
Synonyms 2810425J22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R9273 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118114835-118148263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118146108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 577 (I577N)
Ref Sequence ENSEMBL: ENSMUSP00000143873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035579] [ENSMUST00000202447]
AlphaFold Q8VDH1
Predicted Effect probably damaging
Transcript: ENSMUST00000035579
AA Change: I570N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: I570N

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Blast:FBOX 33 73 6e-8 BLAST
Pfam:Transglut_core2 215 390 3e-43 PFAM
low complexity region 482 491 N/A INTRINSIC
YccV-like 500 597 8.22e-39 SMART
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000202447
AA Change: I577N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: I577N

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
Blast:FBOX 33 73 6e-8 BLAST
Pfam:Transglut_core2 215 390 3e-43 PFAM
low complexity region 482 491 N/A INTRINSIC
YccV-like 500 597 8.22e-39 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (70/70)
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 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. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,033,232 (GRCm39) D728G probably benign Het
Adig A T 2: 158,347,727 (GRCm39) D48V probably damaging Het
Adig A C 2: 158,349,890 (GRCm39) *57S probably null Het
Amigo3 A G 9: 107,932,020 (GRCm39) D481G probably damaging Het
Atf6b T A 17: 34,872,968 (GRCm39) M628K probably damaging Het
Atoh8 A G 6: 72,212,129 (GRCm39) L7P probably damaging Het
Bcl9 A G 3: 97,115,959 (GRCm39) S912P probably damaging Het
Card9 T A 2: 26,247,310 (GRCm39) I280F probably damaging Het
Ccr9 A G 9: 123,609,085 (GRCm39) T256A probably benign Het
Cd300lg T C 11: 101,939,590 (GRCm39) I306T probably damaging Het
Cfap65 T A 1: 74,960,769 (GRCm39) M734L probably benign Het
Cobll1 A G 2: 64,929,356 (GRCm39) S657P probably damaging Het
Comp A G 8: 70,831,285 (GRCm39) N384S probably damaging Het
Cps1 T A 1: 67,191,445 (GRCm39) V209D possibly damaging Het
Cwc22 A T 2: 77,759,803 (GRCm39) D81E possibly damaging Het
D630045J12Rik G A 6: 38,167,512 (GRCm39) P1030L possibly damaging Het
Dcn A G 10: 97,343,637 (GRCm39) Y199C probably damaging Het
Exosc3 A T 4: 45,316,969 (GRCm39) I228N probably damaging Het
Fbxo10 T C 4: 45,062,178 (GRCm39) H116R probably benign Het
Flnc A T 6: 29,447,815 (GRCm39) Q1206L probably benign Het
Fubp3 T C 2: 31,503,056 (GRCm39) F480L probably benign Het
Fzd5 T C 1: 64,775,110 (GRCm39) N217S possibly damaging Het
Garem1 G A 18: 21,281,274 (GRCm39) R361C probably damaging Het
Gcg T C 2: 62,306,133 (GRCm39) M155V probably null Het
Gm7298 G A 6: 121,756,604 (GRCm39) probably benign Het
Gpr160 T A 3: 30,950,038 (GRCm39) L37I probably benign Het
Grik1 G A 16: 87,848,379 (GRCm39) H130Y Het
Hydin T A 8: 111,233,580 (GRCm39) I1806N probably damaging Het
Isl1 A T 13: 116,444,902 (GRCm39) C42* probably null Het
Itpr2 T C 6: 146,226,529 (GRCm39) D1405G probably damaging Het
Kat6b A G 14: 21,711,551 (GRCm39) N682D probably benign Het
Kcnh6 C G 11: 105,924,860 (GRCm39) H941Q possibly damaging Het
Kprp A C 3: 92,733,000 (GRCm39) C17G probably damaging Het
Lsm14a T C 7: 34,088,225 (GRCm39) probably benign Het
Mrgpra2a G T 7: 47,076,307 (GRCm39) T317K probably benign Het
Myh11 A G 16: 14,054,283 (GRCm39) V360A Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Oaf G A 9: 43,133,966 (GRCm39) P252S probably benign Het
Obox2 T G 7: 15,131,290 (GRCm39) V132G unknown Het
Or51v8 T A 7: 103,319,633 (GRCm39) T202S probably benign Het
Or52b1 A G 7: 104,978,646 (GRCm39) L251P probably damaging Het
Or5b109 C T 19: 13,212,268 (GRCm39) S218L probably damaging Het
Or5b12 T C 19: 12,897,446 (GRCm39) T76A possibly damaging Het
Pld2 T A 11: 70,448,234 (GRCm39) S894T probably benign Het
Plxna1 G T 6: 89,296,364 (GRCm39) S1893R possibly damaging Het
Prkd1 T C 12: 50,472,232 (GRCm39) E227G possibly damaging Het
Prox1 T C 1: 189,893,242 (GRCm39) N401S possibly damaging Het
Prune2 T C 19: 17,095,690 (GRCm39) V398A possibly damaging Het
Rasgef1a A G 6: 118,063,223 (GRCm39) N285D probably benign Het
Rbbp5 A G 1: 132,420,304 (GRCm39) K179R probably benign Het
Rp9 G A 9: 22,379,573 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,574,090 (GRCm39) F588L probably benign Het
Sptan1 T A 2: 29,880,977 (GRCm39) D415E possibly damaging Het
Syne1 T C 10: 4,990,901 (GRCm39) K593E probably benign Het
Tab1 A G 15: 80,041,904 (GRCm39) T341A probably benign Het
Tmc4 T C 7: 3,670,552 (GRCm39) E513G probably damaging Het
Tmem131l A C 3: 83,848,244 (GRCm39) V302G probably damaging Het
Tnip1 G A 11: 54,807,783 (GRCm39) H553Y possibly damaging Het
Tns2 C T 15: 102,021,478 (GRCm39) P1048S probably damaging Het
Twsg1 C T 17: 66,233,306 (GRCm39) V215I probably damaging Het
Txnl1 G A 18: 63,825,325 (GRCm39) probably benign Het
Unc13c A G 9: 73,839,862 (GRCm39) Y330H possibly damaging Het
Utrn A T 10: 12,509,707 (GRCm39) W2422R probably damaging Het
Vmn2r112 T A 17: 22,837,721 (GRCm39) D727E probably damaging Het
Vmn2r59 G T 7: 41,695,286 (GRCm39) C375* probably null Het
Vopp1 G T 6: 57,731,575 (GRCm39) Q139K possibly damaging Het
Vwa5b1 T C 4: 138,316,005 (GRCm39) D579G probably damaging Het
Wdr6 A G 9: 108,450,691 (GRCm39) Y971H probably benign Het
Zfp354c A G 11: 50,706,059 (GRCm39) F339L probably damaging Het
Zfyve26 A G 12: 79,317,610 (GRCm39) probably null Het
Other mutations in Fbxo21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Fbxo21 APN 5 118,126,855 (GRCm39) missense probably benign 0.04
IGL02131:Fbxo21 APN 5 118,140,155 (GRCm39) missense possibly damaging 0.76
IGL02156:Fbxo21 APN 5 118,132,733 (GRCm39) splice site probably benign
IGL02195:Fbxo21 APN 5 118,140,219 (GRCm39) missense probably damaging 1.00
IGL02702:Fbxo21 APN 5 118,138,575 (GRCm39) missense probably damaging 1.00
PIT1430001:Fbxo21 UTSW 5 118,115,931 (GRCm39) missense possibly damaging 0.68
R0008:Fbxo21 UTSW 5 118,146,078 (GRCm39) missense possibly damaging 0.63
R0055:Fbxo21 UTSW 5 118,138,555 (GRCm39) missense probably benign 0.12
R0055:Fbxo21 UTSW 5 118,138,555 (GRCm39) missense probably benign 0.12
R0089:Fbxo21 UTSW 5 118,146,208 (GRCm39) missense probably benign
R0101:Fbxo21 UTSW 5 118,133,521 (GRCm39) missense probably damaging 1.00
R0815:Fbxo21 UTSW 5 118,133,573 (GRCm39) splice site probably benign
R0866:Fbxo21 UTSW 5 118,115,098 (GRCm39) missense probably benign 0.01
R1673:Fbxo21 UTSW 5 118,146,129 (GRCm39) missense probably benign 0.27
R2048:Fbxo21 UTSW 5 118,146,169 (GRCm39) missense probably damaging 1.00
R2063:Fbxo21 UTSW 5 118,115,031 (GRCm39) missense probably benign 0.45
R2161:Fbxo21 UTSW 5 118,133,451 (GRCm39) missense probably damaging 1.00
R2224:Fbxo21 UTSW 5 118,146,188 (GRCm39) missense probably damaging 1.00
R3872:Fbxo21 UTSW 5 118,138,394 (GRCm39) missense possibly damaging 0.70
R4750:Fbxo21 UTSW 5 118,138,533 (GRCm39) missense probably benign 0.10
R5807:Fbxo21 UTSW 5 118,114,933 (GRCm39) missense probably benign 0.01
R6075:Fbxo21 UTSW 5 118,126,948 (GRCm39) missense probably damaging 0.97
R6528:Fbxo21 UTSW 5 118,138,421 (GRCm39) missense probably benign 0.25
R7494:Fbxo21 UTSW 5 118,138,388 (GRCm39) missense possibly damaging 0.86
R7498:Fbxo21 UTSW 5 118,140,239 (GRCm39) critical splice donor site probably null
R7801:Fbxo21 UTSW 5 118,124,189 (GRCm39) missense probably damaging 0.96
R7857:Fbxo21 UTSW 5 118,126,878 (GRCm39) missense probably benign 0.21
R7944:Fbxo21 UTSW 5 118,146,212 (GRCm39) missense possibly damaging 0.89
R7945:Fbxo21 UTSW 5 118,146,212 (GRCm39) missense possibly damaging 0.89
R8116:Fbxo21 UTSW 5 118,128,919 (GRCm39) missense possibly damaging 0.70
R8354:Fbxo21 UTSW 5 118,133,479 (GRCm39) missense probably damaging 1.00
R8454:Fbxo21 UTSW 5 118,133,479 (GRCm39) missense probably damaging 1.00
R8751:Fbxo21 UTSW 5 118,140,127 (GRCm39) missense probably damaging 1.00
R9483:Fbxo21 UTSW 5 118,127,272 (GRCm39) missense possibly damaging 0.52
Z1177:Fbxo21 UTSW 5 118,127,236 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGATGTCTTCTGAGCAGAGC -3'
(R):5'- AATCCTGGTCCCCTAGAAGG -3'

Sequencing Primer
(F):5'- ATGTCTTCTGAGCAGAGCCACAG -3'
(R):5'- TGGTCCCCTAGAAGGTAGCAG -3'
Posted On 2022-03-25