Incidental Mutation 'R7760:Fbxl21'
ID 597813
Institutional Source Beutler Lab
Gene Symbol Fbxl21
Ensembl Gene ENSMUSG00000035509
Gene Name F-box and leucine-rich repeat protein 21
Synonyms Psttm, FBXL3B, FBL3B, D630045D17Rik
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 56670285-56685711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56674747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000112518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045428] [ENSMUST00000121095] [ENSMUST00000121871] [ENSMUST00000124981] [ENSMUST00000128668]
AlphaFold Q8BFZ4
Predicted Effect probably benign
Transcript: ENSMUST00000045428
AA Change: S7P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: S7P

DomainStartEndE-ValueType
FBOX 45 85 4.77e-11 SMART
SCOP:d1a4ya_ 177 398 3e-3 SMART
Blast:LRR 203 228 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121095
AA Change: S33P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112714
Gene: ENSMUSG00000035509
AA Change: S33P

DomainStartEndE-ValueType
FBOX 71 111 4.77e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121871
AA Change: S33P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: S33P

DomainStartEndE-ValueType
FBOX 71 111 4.77e-11 SMART
SCOP:d1a4ya_ 203 424 2e-3 SMART
Blast:LRR 229 254 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000124981
Predicted Effect probably benign
Transcript: ENSMUST00000128668
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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 Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice with a point mutation exhibit a short circadian free-running period in constant darkness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging Het
Other mutations in Fbxl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Fbxl21 APN 13 56,675,522 (GRCm39) splice site probably benign
IGL01972:Fbxl21 APN 13 56,684,672 (GRCm39) nonsense probably null
IGL02450:Fbxl21 APN 13 56,674,766 (GRCm39) missense possibly damaging 0.52
IGL02667:Fbxl21 APN 13 56,684,942 (GRCm39) missense probably benign 0.07
IGL02945:Fbxl21 APN 13 56,674,983 (GRCm39) missense probably damaging 1.00
R1535:Fbxl21 UTSW 13 56,671,340 (GRCm39) start codon destroyed probably benign 0.01
R1741:Fbxl21 UTSW 13 56,684,915 (GRCm39) missense probably benign 0.06
R1863:Fbxl21 UTSW 13 56,674,876 (GRCm39) missense probably benign 0.01
R1886:Fbxl21 UTSW 13 56,674,906 (GRCm39) missense probably benign 0.24
R3176:Fbxl21 UTSW 13 56,684,935 (GRCm39) nonsense probably null
R3276:Fbxl21 UTSW 13 56,684,935 (GRCm39) nonsense probably null
R3732:Fbxl21 UTSW 13 56,674,830 (GRCm39) missense probably benign 0.01
R3732:Fbxl21 UTSW 13 56,674,830 (GRCm39) missense probably benign 0.01
R3733:Fbxl21 UTSW 13 56,674,830 (GRCm39) missense probably benign 0.01
R4535:Fbxl21 UTSW 13 56,674,873 (GRCm39) missense probably damaging 0.99
R4678:Fbxl21 UTSW 13 56,684,862 (GRCm39) missense probably damaging 1.00
R5264:Fbxl21 UTSW 13 56,680,136 (GRCm39) missense probably benign 0.17
R5640:Fbxl21 UTSW 13 56,685,194 (GRCm39) missense probably benign 0.23
R5714:Fbxl21 UTSW 13 56,674,885 (GRCm39) missense probably benign 0.29
R6640:Fbxl21 UTSW 13 56,684,822 (GRCm39) missense probably damaging 1.00
R6989:Fbxl21 UTSW 13 56,674,874 (GRCm39) missense probably damaging 1.00
R7140:Fbxl21 UTSW 13 56,680,145 (GRCm39) missense probably damaging 1.00
R7180:Fbxl21 UTSW 13 56,671,340 (GRCm39) start codon destroyed probably benign 0.01
R7556:Fbxl21 UTSW 13 56,674,741 (GRCm39) missense probably benign 0.35
R7760:Fbxl21 UTSW 13 56,684,816 (GRCm39) missense probably benign
R7911:Fbxl21 UTSW 13 56,684,976 (GRCm39) missense probably damaging 0.99
X0019:Fbxl21 UTSW 13 56,680,242 (GRCm39) missense possibly damaging 0.82
X0026:Fbxl21 UTSW 13 56,674,925 (GRCm39) missense probably damaging 1.00
Z1176:Fbxl21 UTSW 13 56,674,816 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CACCAATCAATGCGTGGAATG -3'
(R):5'- CCTCCAAAGATCAGGGATGTGG -3'

Sequencing Primer
(F):5'- GTAAGATGACTGCTAGAATTGTGTC -3'
(R):5'- GATCAGGGATGTGGAATACTTCATTC -3'
Posted On 2019-11-26