Incidental Mutation 'R6989:Fbxl21'
ID 543159
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 045095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 56670285-56685711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56674874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 75 (V75A)
Ref Sequence ENSEMBL: ENSMUSP00000112714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045428] [ENSMUST00000121095] [ENSMUST00000121871] [ENSMUST00000124981] [ENSMUST00000128668]
AlphaFold Q8BFZ4
Predicted Effect probably damaging
Transcript: ENSMUST00000045428
AA Change: V49A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: V49A

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 damaging
Transcript: ENSMUST00000121095
AA Change: V75A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112714
Gene: ENSMUSG00000035509
AA Change: V75A

DomainStartEndE-ValueType
FBOX 71 111 4.77e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121871
AA Change: V75A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: V75A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
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
R7760:Fbxl21 UTSW 13 56,674,747 (GRCm39) missense probably benign 0.00
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'- GCGTGGAATGTAAGATGACTGC -3'
(R):5'- ACTGAAGATGTGCAGCGTGC -3'

Sequencing Primer
(F):5'- GTAAGATGACTGCTAGAATTGTGTC -3'
(R):5'- GCAGCGTGCTTTTTGATGATC -3'
Posted On 2018-11-28