Incidental Mutation 'IGL02033:Fbxw13'
ID 184421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw13
Ensembl Gene ENSMUSG00000049314
Gene Name F-box and WD-40 domain protein 13
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02033
Quality Score
Status
Chromosome 9
Chromosomal Location 109008295-109025043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109010484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 385 (I385V)
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: I385V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: I385V

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,407,995 (GRCm39) F107L possibly damaging Het
Adam30 G T 3: 98,068,787 (GRCm39) V79F probably benign Het
Akap8l T C 17: 32,557,246 (GRCm39) R122G probably damaging Het
Apc T A 18: 34,443,772 (GRCm39) S570R probably damaging Het
Btnl10 A G 11: 58,810,141 (GRCm39) E94G probably damaging Het
Col25a1 A T 3: 130,182,597 (GRCm39) probably benign Het
Cubn A C 2: 13,344,657 (GRCm39) I2208S probably damaging Het
Cyp17a1 A T 19: 46,661,046 (GRCm39) Y79* probably null Het
Dach1 T A 14: 98,138,865 (GRCm39) H474L possibly damaging Het
Dnai4 G T 4: 102,923,490 (GRCm39) N123K possibly damaging Het
Dscaml1 A T 9: 45,595,080 (GRCm39) I728F probably damaging Het
Erp29 G T 5: 121,590,305 (GRCm39) S33R probably benign Het
Fat3 A C 9: 15,826,648 (GRCm39) S4435A possibly damaging Het
Hspg2 T C 4: 137,279,565 (GRCm39) M3160T probably benign Het
Lrrc28 C T 7: 67,209,605 (GRCm39) probably null Het
Myh15 T C 16: 48,965,707 (GRCm39) V1204A probably benign Het
Or5b104 T C 19: 13,072,221 (GRCm39) S91G possibly damaging Het
Pcare T A 17: 72,058,076 (GRCm39) I534F probably damaging Het
Pde5a G A 3: 122,596,710 (GRCm39) E434K possibly damaging Het
Pgr T A 9: 8,965,111 (GRCm39) V753E probably damaging Het
Pik3c3 T A 18: 30,445,703 (GRCm39) S563R possibly damaging Het
Ppt2 A G 17: 34,844,728 (GRCm39) probably benign Het
Prg4 T A 1: 150,331,619 (GRCm39) probably benign Het
Pygo1 G T 9: 72,852,683 (GRCm39) S290I possibly damaging Het
Ralgapa1 G T 12: 55,689,262 (GRCm39) H1946N possibly damaging Het
Rap1gds1 A G 3: 138,661,232 (GRCm39) probably benign Het
Sema4g G A 19: 44,985,854 (GRCm39) R256H probably damaging Het
Slc22a12 T G 19: 6,587,844 (GRCm39) D370A probably benign Het
Spata16 G A 3: 26,967,483 (GRCm39) probably null Het
Trim44 A G 2: 102,230,521 (GRCm39) M170T possibly damaging Het
Trpv6 A T 6: 41,604,551 (GRCm39) probably benign Het
Vwa8 T G 14: 79,221,649 (GRCm39) L535R possibly damaging Het
Other mutations in Fbxw13
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2878: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
Posted On 2014-05-07