Incidental Mutation 'R6805:Fbxw21'
ID 533540
Institutional Source Beutler Lab
Gene Symbol Fbxw21
Ensembl Gene ENSMUSG00000047237
Gene Name F-box and WD-40 domain protein 21
Synonyms E330009P21Rik
MMRRC Submission 044918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6805 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108968522-108991090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108986633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 82 (R82L)
Ref Sequence ENSEMBL: ENSMUSP00000143200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054925] [ENSMUST00000198076] [ENSMUST00000199540]
AlphaFold Q8BI38
Predicted Effect probably damaging
Transcript: ENSMUST00000054925
AA Change: R82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056358
Gene: ENSMUSG00000047237
AA Change: R82L

DomainStartEndE-ValueType
FBOX 5 45 1.46e-6 SMART
SCOP:d1tbga_ 119 249 1e-7 SMART
Blast:WD40 137 176 1e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000198076
AA Change: R82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143095
Gene: ENSMUSG00000047237
AA Change: R82L

DomainStartEndE-ValueType
FBOX 5 45 1.46e-6 SMART
SCOP:d1tbga_ 119 249 9e-8 SMART
Blast:WD40 137 176 1e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000199540
AA Change: R82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143200
Gene: ENSMUSG00000047237
AA Change: R82L

DomainStartEndE-ValueType
FBOX 5 45 9e-9 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,946,744 (GRCm39) T214A possibly damaging Het
A930009A15Rik G T 10: 115,415,810 (GRCm39) probably benign Het
Aadac A C 3: 59,944,757 (GRCm39) D143A probably benign Het
Acot10 T G 15: 20,665,452 (GRCm39) T430P probably benign Het
Adgrb3 T C 1: 25,865,253 (GRCm39) T197A possibly damaging Het
Bbs1 A G 19: 4,950,643 (GRCm39) I200T probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cadps G A 14: 12,467,103 (GRCm38) A943V probably damaging Het
Cc2d2a A G 5: 43,838,673 (GRCm39) E48G probably damaging Het
Clca3a1 A T 3: 144,724,428 (GRCm39) C211S probably damaging Het
Col18a1 A G 10: 76,890,073 (GRCm39) L1429P probably damaging Het
Cplane1 T C 15: 8,273,790 (GRCm39) V2591A probably benign Het
Cul2 T G 18: 3,421,263 (GRCm39) Y196D probably damaging Het
D630023F18Rik T C 1: 65,156,365 (GRCm39) S43G probably benign Het
Ddx39a G A 8: 84,449,766 (GRCm39) R427Q probably damaging Het
Def6 A G 17: 28,442,691 (GRCm39) T285A probably damaging Het
Defb21 T A 2: 152,416,789 (GRCm39) D88E probably benign Het
Defb6 A G 8: 19,278,117 (GRCm39) K63R probably benign Het
Dnph1 T C 17: 46,809,670 (GRCm39) S112P probably damaging Het
Dock10 T A 1: 80,564,407 (GRCm39) I467L probably benign Het
Dspp C A 5: 104,323,716 (GRCm39) H286Q probably benign Het
Eya1 T A 1: 14,253,501 (GRCm39) T459S probably benign Het
Faf1 T C 4: 109,719,049 (GRCm39) L385P probably damaging Het
Fryl A G 5: 73,222,437 (GRCm39) V2048A probably benign Het
Galnt5 A T 2: 57,925,311 (GRCm39) D864V possibly damaging Het
Gata6 T G 18: 11,054,460 (GRCm39) S130A possibly damaging Het
Gbf1 G T 19: 46,250,946 (GRCm39) R434L probably damaging Het
Gga3 A G 11: 115,476,588 (GRCm39) F709L probably damaging Het
Hcar1 A G 5: 124,017,193 (GRCm39) V166A probably benign Het
Hexa T A 9: 59,471,220 (GRCm39) N491K possibly damaging Het
Hpse2 A T 19: 43,282,760 (GRCm39) C164* probably null Het
Ifi202b T C 1: 173,802,555 (GRCm39) Y93C probably damaging Het
Iftap T C 2: 101,396,804 (GRCm39) K192E probably benign Het
Iscu T A 5: 113,913,304 (GRCm39) I79N probably damaging Het
Jmjd7 T A 2: 119,861,804 (GRCm39) Y182* probably null Het
Jup A T 11: 100,274,284 (GRCm39) D135E probably benign Het
Kit T A 5: 75,813,468 (GRCm39) I881N probably damaging Het
Llgl1 T A 11: 60,593,691 (GRCm39) S55T probably benign Het
Lonp2 G A 8: 87,435,724 (GRCm39) M653I probably benign Het
Lrp8 T C 4: 107,711,517 (GRCm39) Y307H probably damaging Het
Med13 A T 11: 86,169,622 (GRCm39) M1914K possibly damaging Het
Ms4a1 A G 19: 11,230,537 (GRCm39) probably null Het
Naip1 A G 13: 100,563,849 (GRCm39) S439P probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or10ag59 T A 2: 87,405,262 (GRCm39) probably null Het
Or7g20 G T 9: 18,946,597 (GRCm39) M59I probably damaging Het
Pds5b T A 5: 150,729,026 (GRCm39) probably null Het
Phf12 G A 11: 77,918,199 (GRCm39) G804R probably damaging Het
Pou6f2 T C 13: 18,414,074 (GRCm39) T234A Het
Prune2 A T 19: 17,097,954 (GRCm39) I1153L probably benign Het
Ptprc C T 1: 137,995,623 (GRCm39) probably null Het
Qpctl T C 7: 18,883,079 (GRCm39) Q11R probably benign Het
Rfx4 A G 10: 84,676,092 (GRCm39) K103E possibly damaging Het
Srcin1 T A 11: 97,442,806 (GRCm39) probably null Het
St6galnac1 G T 11: 116,659,770 (GRCm39) A181D probably damaging Het
Stk36 T C 1: 74,661,398 (GRCm39) V475A probably benign Het
Tbc1d21 T C 9: 58,268,571 (GRCm39) T263A possibly damaging Het
Tex24 A T 8: 27,835,028 (GRCm39) K185N probably damaging Het
Tnxb T A 17: 34,917,127 (GRCm39) V2174E possibly damaging Het
Tollip A G 7: 141,444,582 (GRCm39) S57P probably benign Het
Zbtb49 A G 5: 38,370,585 (GRCm39) probably benign Het
Zfp758 A G 17: 22,580,650 (GRCm39) T30A probably benign Het
Other mutations in Fbxw21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Fbxw21 APN 9 108,991,032 (GRCm39) missense probably damaging 1.00
IGL00901:Fbxw21 APN 9 108,985,467 (GRCm39) missense probably benign 0.00
IGL01377:Fbxw21 APN 9 108,975,713 (GRCm39) nonsense probably null
IGL01941:Fbxw21 APN 9 108,977,224 (GRCm39) missense probably benign 0.07
IGL02491:Fbxw21 APN 9 108,972,887 (GRCm39) missense probably benign
IGL03163:Fbxw21 APN 9 108,974,552 (GRCm39) missense probably benign 0.01
IGL03377:Fbxw21 APN 9 108,968,597 (GRCm39) missense probably benign 0.01
R0148:Fbxw21 UTSW 9 108,977,085 (GRCm39) critical splice donor site probably null
R0328:Fbxw21 UTSW 9 108,975,653 (GRCm39) missense possibly damaging 0.52
R0909:Fbxw21 UTSW 9 108,985,476 (GRCm39) missense possibly damaging 0.84
R1506:Fbxw21 UTSW 9 108,977,257 (GRCm39) missense probably damaging 1.00
R1575:Fbxw21 UTSW 9 108,990,984 (GRCm39) missense probably benign 0.00
R1615:Fbxw21 UTSW 9 108,972,794 (GRCm39) missense probably damaging 1.00
R1719:Fbxw21 UTSW 9 108,977,242 (GRCm39) missense possibly damaging 0.85
R2415:Fbxw21 UTSW 9 108,985,469 (GRCm39) missense possibly damaging 0.71
R2424:Fbxw21 UTSW 9 108,986,587 (GRCm39) nonsense probably null
R2508:Fbxw21 UTSW 9 108,974,553 (GRCm39) missense probably benign 0.31
R2898:Fbxw21 UTSW 9 108,985,404 (GRCm39) missense possibly damaging 0.52
R2964:Fbxw21 UTSW 9 108,974,578 (GRCm39) missense probably benign 0.10
R2965:Fbxw21 UTSW 9 108,974,578 (GRCm39) missense probably benign 0.10
R2966:Fbxw21 UTSW 9 108,974,578 (GRCm39) missense probably benign 0.10
R4809:Fbxw21 UTSW 9 108,972,458 (GRCm39) missense probably damaging 1.00
R4911:Fbxw21 UTSW 9 108,974,731 (GRCm39) missense probably damaging 1.00
R5669:Fbxw21 UTSW 9 108,974,578 (GRCm39) missense probably benign 0.12
R5928:Fbxw21 UTSW 9 108,972,893 (GRCm39) missense possibly damaging 0.55
R6043:Fbxw21 UTSW 9 108,974,607 (GRCm39) missense possibly damaging 0.69
R6277:Fbxw21 UTSW 9 108,974,623 (GRCm39) missense possibly damaging 0.95
R6944:Fbxw21 UTSW 9 108,986,603 (GRCm39) missense probably damaging 1.00
R7079:Fbxw21 UTSW 9 108,974,578 (GRCm39) missense probably benign 0.10
R7081:Fbxw21 UTSW 9 108,990,990 (GRCm39) missense probably damaging 1.00
R7744:Fbxw21 UTSW 9 108,986,720 (GRCm39) missense possibly damaging 0.81
R7774:Fbxw21 UTSW 9 108,972,908 (GRCm39) missense probably benign 0.00
R7980:Fbxw21 UTSW 9 108,985,639 (GRCm39) splice site probably null
R8043:Fbxw21 UTSW 9 108,975,694 (GRCm39) missense probably benign 0.01
R8260:Fbxw21 UTSW 9 108,975,614 (GRCm39) critical splice donor site probably null
R9142:Fbxw21 UTSW 9 108,985,413 (GRCm39) missense probably damaging 1.00
R9172:Fbxw21 UTSW 9 108,975,764 (GRCm39) missense probably benign 0.00
R9250:Fbxw21 UTSW 9 108,972,846 (GRCm39) missense probably benign 0.31
R9251:Fbxw21 UTSW 9 108,974,687 (GRCm39) missense probably damaging 1.00
R9294:Fbxw21 UTSW 9 108,972,830 (GRCm39) missense probably damaging 0.99
R9303:Fbxw21 UTSW 9 108,986,727 (GRCm39) missense probably benign
R9479:Fbxw21 UTSW 9 108,968,612 (GRCm39) missense probably benign 0.00
R9509:Fbxw21 UTSW 9 108,977,217 (GRCm39) missense possibly damaging 0.90
R9765:Fbxw21 UTSW 9 108,975,625 (GRCm39) missense possibly damaging 0.71
R9773:Fbxw21 UTSW 9 108,977,128 (GRCm39) missense possibly damaging 0.89
R9774:Fbxw21 UTSW 9 108,991,057 (GRCm39) start codon destroyed probably null 0.98
Z1088:Fbxw21 UTSW 9 108,974,605 (GRCm39) missense probably benign
Z1176:Fbxw21 UTSW 9 108,974,605 (GRCm39) missense probably benign
Z1177:Fbxw21 UTSW 9 108,974,605 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTACAATGTTGAGCAAGCACTC -3'
(R):5'- AACCATGGCTCTAAGGTGAGG -3'

Sequencing Primer
(F):5'- ATCACAGATTGGCTCCATGG -3'
(R):5'- CCATGGCTCTAAGGTGAGGTGATC -3'
Posted On 2018-09-12