Incidental Mutation 'R1114:Fbxw20'
ID 97053
Institutional Source Beutler Lab
Gene Symbol Fbxw20
Ensembl Gene ENSMUSG00000061701
Gene Name F-box and WD-40 domain protein 20
Synonyms
MMRRC Submission 039187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1114 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109046500-109063822 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109052550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000078503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079548] [ENSMUST00000197329]
AlphaFold Q5U467
Predicted Effect probably damaging
Transcript: ENSMUST00000079548
AA Change: V261A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078503
Gene: ENSMUSG00000061701
AA Change: V261A

DomainStartEndE-ValueType
FBOX 5 45 2.37e-6 SMART
SCOP:d1tbga_ 116 249 5e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197329
AA Change: V191A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143126
Gene: ENSMUSG00000061701
AA Change: V191A

DomainStartEndE-ValueType
FBOX 5 45 1.5e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198261
Meta Mutation Damage Score 0.6866 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.5%
  • 20x: 84.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,179 (GRCm39) noncoding transcript Het
Acss3 T A 10: 106,824,740 (GRCm39) R422S possibly damaging Het
Asb15 G A 6: 24,567,176 (GRCm39) R499H probably damaging Het
Aspm C T 1: 139,389,662 (GRCm39) probably benign Het
Camk2d G A 3: 126,633,941 (GRCm39) V488M probably damaging Het
Cd247 A G 1: 165,616,407 (GRCm39) K4E probably benign Het
Cdh20 A G 1: 104,906,739 (GRCm39) D522G probably damaging Het
Cse1l T A 2: 166,783,123 (GRCm39) probably benign Het
Dctn2 T A 10: 127,114,011 (GRCm39) probably null Het
Dpy19l1 A T 9: 24,336,072 (GRCm39) F545I probably benign Het
Dpy19l4 A G 4: 11,287,643 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,540 (GRCm39) T719S possibly damaging Het
Dusp12 A C 1: 170,708,586 (GRCm39) V48G probably damaging Het
Efcab7 A T 4: 99,735,452 (GRCm39) R159* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Inpp5j C A 11: 3,444,814 (GRCm39) R953L possibly damaging Het
Itprid2 A G 2: 79,487,873 (GRCm39) E652G probably damaging Het
Lrrk2 C T 15: 91,584,671 (GRCm39) R363* probably null Het
Ltbp1 A G 17: 75,667,770 (GRCm39) D1089G probably benign Het
Luc7l T C 17: 26,494,832 (GRCm39) probably benign Het
Mdn1 G A 4: 32,746,568 (GRCm39) probably null Het
Mgat4a A T 1: 37,503,487 (GRCm39) probably benign Het
Mmp12 A G 9: 7,358,289 (GRCm39) T392A possibly damaging Het
Nlrp12 A G 7: 3,277,166 (GRCm39) V921A probably benign Het
Or5m5 A T 2: 85,814,651 (GRCm39) I156F probably benign Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or6c8b T A 10: 128,882,711 (GRCm39) I74F possibly damaging Het
Pkd2l1 T C 19: 44,179,983 (GRCm39) probably benign Het
Pramel24 A G 4: 143,453,425 (GRCm39) I178V probably benign Het
Rictor C A 15: 6,823,486 (GRCm39) C1554* probably null Het
Ryr2 A G 13: 11,960,867 (GRCm39) C24R probably damaging Het
Scamp2 T A 9: 57,488,863 (GRCm39) I188N probably damaging Het
Smg1 A T 7: 117,759,013 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synrg C A 11: 83,914,262 (GRCm39) probably benign Het
Syt9 G T 7: 107,024,562 (GRCm39) V152F possibly damaging Het
Trmt2a A G 16: 18,068,304 (GRCm39) probably benign Het
Vmn2r100 T C 17: 19,752,261 (GRCm39) I831T probably damaging Het
Vps13a G T 19: 16,727,515 (GRCm39) H196N probably benign Het
Xdh T C 17: 74,248,144 (GRCm39) probably benign Het
Other mutations in Fbxw20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Fbxw20 APN 9 109,063,770 (GRCm39) start codon destroyed probably damaging 0.97
IGL01764:Fbxw20 APN 9 109,052,427 (GRCm39) missense possibly damaging 0.71
IGL02149:Fbxw20 APN 9 109,062,886 (GRCm39) critical splice donor site probably null
IGL02307:Fbxw20 APN 9 109,062,601 (GRCm39) missense possibly damaging 0.70
IGL02335:Fbxw20 APN 9 109,052,377 (GRCm39) missense possibly damaging 0.91
IGL02338:Fbxw20 APN 9 109,055,046 (GRCm39) missense probably benign 0.00
PIT4377001:Fbxw20 UTSW 9 109,050,795 (GRCm39) missense probably benign 0.00
PIT4434001:Fbxw20 UTSW 9 109,052,500 (GRCm39) missense probably damaging 1.00
R0652:Fbxw20 UTSW 9 109,061,400 (GRCm39) missense probably damaging 1.00
R1018:Fbxw20 UTSW 9 109,050,404 (GRCm39) missense probably benign 0.03
R1596:Fbxw20 UTSW 9 109,050,368 (GRCm39) missense probably damaging 1.00
R1692:Fbxw20 UTSW 9 109,050,777 (GRCm39) missense possibly damaging 0.73
R1967:Fbxw20 UTSW 9 109,046,578 (GRCm39) missense probably benign 0.00
R2055:Fbxw20 UTSW 9 109,050,442 (GRCm39) missense probably damaging 0.99
R2224:Fbxw20 UTSW 9 109,062,650 (GRCm39) missense possibly damaging 0.50
R4394:Fbxw20 UTSW 9 109,061,398 (GRCm39) missense probably benign 0.00
R4617:Fbxw20 UTSW 9 109,046,631 (GRCm39) missense probably damaging 1.00
R4858:Fbxw20 UTSW 9 109,063,763 (GRCm39) missense possibly damaging 0.54
R5794:Fbxw20 UTSW 9 109,062,668 (GRCm39) missense possibly damaging 0.95
R5794:Fbxw20 UTSW 9 109,052,358 (GRCm39) missense probably damaging 0.97
R6090:Fbxw20 UTSW 9 109,052,431 (GRCm39) missense probably benign 0.03
R7161:Fbxw20 UTSW 9 109,055,048 (GRCm39) missense probably damaging 1.00
R7328:Fbxw20 UTSW 9 109,061,383 (GRCm39) missense probably damaging 1.00
R8004:Fbxw20 UTSW 9 109,050,449 (GRCm39) missense probably damaging 1.00
R8258:Fbxw20 UTSW 9 109,063,763 (GRCm39) missense probably benign 0.18
R8259:Fbxw20 UTSW 9 109,063,763 (GRCm39) missense probably benign 0.18
R8770:Fbxw20 UTSW 9 109,046,596 (GRCm39) missense probably benign 0.00
R9006:Fbxw20 UTSW 9 109,062,530 (GRCm39) splice site probably benign
R9090:Fbxw20 UTSW 9 109,050,423 (GRCm39) missense probably benign 0.02
R9131:Fbxw20 UTSW 9 109,052,514 (GRCm39) missense probably damaging 1.00
R9271:Fbxw20 UTSW 9 109,050,423 (GRCm39) missense probably benign 0.02
R9464:Fbxw20 UTSW 9 109,050,399 (GRCm39) missense probably damaging 1.00
Z1177:Fbxw20 UTSW 9 109,054,955 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCAGCCTCTATGAACCTTTCCTGAC -3'
(R):5'- GGACTCCATTCCACCTCTGAATGTG -3'

Sequencing Primer
(F):5'- ACGTCATGTCTGGATTGAGAAC -3'
(R):5'- CCACCTCTGAATGTGATGGG -3'
Posted On 2014-01-05