Incidental Mutation 'R2878:Fbxw13'
ID 260179
Institutional Source Beutler Lab
Gene Symbol Fbxw13
Ensembl Gene ENSMUSG00000049314
Gene Name F-box and WD-40 domain protein 13
Synonyms
MMRRC Submission 040466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2878 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109008295-109025043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109010534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 368 (F368S)
Ref Sequence ENSEMBL: ENSMUSP00000053786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061456] [ENSMUST00000199102] [ENSMUST00000199118]
AlphaFold Q8BI57
Predicted Effect probably damaging
Transcript: ENSMUST00000061456
AA Change: F368S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: F368S

DomainStartEndE-ValueType
FBOX 5 45 9.33e-5 SMART
SCOP:d1gxra_ 128 249 8e-7 SMART
Blast:WD40 137 176 2e-7 BLAST
low complexity region 421 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199102
SMART Domains Protein: ENSMUSP00000142352
Gene: ENSMUSG00000049314

DomainStartEndE-ValueType
SCOP:d1gxra_ 45 166 1e-7 SMART
Blast:WD40 54 93 7e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000199118
SMART Domains Protein: ENSMUSP00000143174
Gene: ENSMUSG00000049314

DomainStartEndE-ValueType
FBOX 5 45 3.25e-4 SMART
Meta Mutation Damage Score 0.8129 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 92% (58/63)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adgrg7 A G 16: 56,570,817 (GRCm39) F404L probably benign Het
Akr1c20 G A 13: 4,557,774 (GRCm39) T251M probably damaging Het
Amph G A 13: 19,288,437 (GRCm39) V309I possibly damaging Het
Ano2 T G 6: 125,840,481 (GRCm39) F384C probably damaging Het
Aplf G A 6: 87,645,409 (GRCm39) R32* probably null Het
Arhgef18 A G 8: 3,482,759 (GRCm39) M155V probably benign Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Camkmt T C 17: 85,738,979 (GRCm39) probably benign Het
Capn2 T A 1: 182,344,798 (GRCm39) E41V probably benign Het
Cd53 T C 3: 106,674,732 (GRCm39) T112A probably benign Het
Cyp2a4 G A 7: 26,011,612 (GRCm39) E278K possibly damaging Het
Dact2 A T 17: 14,416,176 (GRCm39) S675T probably damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eml4 T A 17: 83,717,603 (GRCm39) H58Q probably benign Het
F13b T C 1: 139,429,485 (GRCm39) M1T probably null Het
Fam83b A G 9: 76,398,092 (GRCm39) F1004L probably damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Fscb A T 12: 64,519,348 (GRCm39) V706E unknown Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gm17546 A T 15: 95,727,805 (GRCm39) probably benign Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Map3k19 T A 1: 127,751,530 (GRCm39) E607V possibly damaging Het
Map3k4 T C 17: 12,482,954 (GRCm39) S588G probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nfatc3 C A 8: 106,818,776 (GRCm39) T498K probably damaging Het
Nfkb2 G A 19: 46,295,880 (GRCm39) R158H possibly damaging Het
Obscn T C 11: 58,947,014 (GRCm39) E4337G possibly damaging Het
Or5b106 A G 19: 13,123,771 (GRCm39) L84P probably benign Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rbm6 T C 9: 107,729,649 (GRCm39) E333G probably damaging Het
Rem2 A G 14: 54,713,819 (GRCm39) T31A possibly damaging Het
Ric1 A G 19: 29,579,730 (GRCm39) D1224G possibly damaging Het
Rp1 A G 1: 4,418,362 (GRCm39) S917P probably damaging Het
Scn2a G A 2: 65,518,715 (GRCm39) G363D probably damaging Het
Shcbp1l A T 1: 153,313,264 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,419 (GRCm39) E714* probably null Het
Slc15a1 T A 14: 121,703,345 (GRCm39) K545N probably benign Het
Slc1a2 T A 2: 102,591,512 (GRCm39) M414K probably damaging Het
Slc7a8 A G 14: 54,997,143 (GRCm39) S70P probably damaging Het
Spopfm1 G T 3: 94,173,787 (GRCm39) C265F possibly damaging Het
Taf1a A G 1: 183,179,173 (GRCm39) E117G probably damaging Het
Trem2 A G 17: 48,658,141 (GRCm39) D135G probably benign Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Unc80 TGTATTCCAGGCG TG 1: 66,710,735 (GRCm39) probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Wdr45 C T X: 7,593,611 (GRCm39) P271S probably damaging Het
Zfp410 A C 12: 84,378,411 (GRCm39) N245T probably damaging Het
Other mutations in Fbxw13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02033:Fbxw13 APN 9 109,010,484 (GRCm39) missense probably damaging 0.99
IGL02455:Fbxw13 APN 9 109,012,255 (GRCm39) missense probably benign 0.26
IGL03154:Fbxw13 APN 9 109,010,533 (GRCm39) missense probably damaging 0.96
R0304:Fbxw13 UTSW 9 109,023,789 (GRCm39) missense probably benign 0.02
R1259:Fbxw13 UTSW 9 109,014,439 (GRCm39) missense probably damaging 1.00
R1710:Fbxw13 UTSW 9 109,010,586 (GRCm39) missense probably damaging 1.00
R1912:Fbxw13 UTSW 9 109,010,611 (GRCm39) missense probably benign 0.10
R2877:Fbxw13 UTSW 9 109,010,534 (GRCm39) missense probably damaging 1.00
R3085:Fbxw13 UTSW 9 109,013,299 (GRCm39) nonsense probably null
R4321:Fbxw13 UTSW 9 109,010,503 (GRCm39) missense probably benign 0.10
R4969:Fbxw13 UTSW 9 109,010,592 (GRCm39) splice site probably null
R5024:Fbxw13 UTSW 9 109,008,403 (GRCm39) missense probably benign 0.00
R5450:Fbxw13 UTSW 9 109,013,225 (GRCm39) missense probably benign 0.41
R5957:Fbxw13 UTSW 9 109,021,734 (GRCm39) critical splice donor site probably null
R6801:Fbxw13 UTSW 9 109,023,795 (GRCm39) missense probably null 1.00
R7448:Fbxw13 UTSW 9 109,014,471 (GRCm39) missense unknown
R7710:Fbxw13 UTSW 9 109,024,968 (GRCm39) missense probably damaging 1.00
R8163:Fbxw13 UTSW 9 109,012,122 (GRCm39) missense probably benign 0.45
R8320:Fbxw13 UTSW 9 109,012,134 (GRCm39) missense probably benign 0.02
R8714:Fbxw13 UTSW 9 109,023,832 (GRCm39) missense probably benign 0.00
R8845:Fbxw13 UTSW 9 109,023,833 (GRCm39) missense possibly damaging 0.85
R8884:Fbxw13 UTSW 9 109,010,469 (GRCm39) missense probably benign 0.00
R8979:Fbxw13 UTSW 9 109,013,197 (GRCm39) missense probably damaging 0.96
R9223:Fbxw13 UTSW 9 109,024,116 (GRCm39) missense probably damaging 1.00
R9318:Fbxw13 UTSW 9 109,008,382 (GRCm39) missense probably benign 0.17
X0065:Fbxw13 UTSW 9 109,021,776 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGTGAGTAGGCTGGAGTCAATATC -3'
(R):5'- CCATGGAAGGAGCGATATGC -3'

Sequencing Primer
(F):5'- AATTCCAGGAAGTTGGCCTC -3'
(R):5'- TCAGTAAGCATTAAGGATATTGCTC -3'
Posted On 2015-01-23