Incidental Mutation 'R6801:Fbxw13'
ID 533347
Institutional Source Beutler Lab
Gene Symbol Fbxw13
Ensembl Gene ENSMUSG00000049314
Gene Name F-box and WD-40 domain protein 13
Synonyms
MMRRC Submission 044914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6801 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 109008295-109025043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109023795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 83 (A83V)
Ref Sequence ENSEMBL: ENSMUSP00000053786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061456] [ENSMUST00000199102] [ENSMUST00000199118]
AlphaFold Q8BI57
Predicted Effect probably null
Transcript: ENSMUST00000061456
AA Change: A83V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: A83V

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,174,680 (GRCm39) Y695F possibly damaging Het
Arhgap20 A G 9: 51,759,892 (GRCm39) D545G probably damaging Het
Arhgef11 A G 3: 87,643,159 (GRCm39) E1457G possibly damaging Het
Atp2b4 T A 1: 133,655,524 (GRCm39) I747F probably damaging Het
Bche T A 3: 73,609,133 (GRCm39) I98L probably benign Het
C2cd6 TC T 1: 59,133,742 (GRCm39) probably null Het
Ccdc90b A G 7: 92,216,943 (GRCm39) T72A probably benign Het
Chrd A G 16: 20,554,497 (GRCm39) E352G possibly damaging Het
Csmd2 A G 4: 128,277,743 (GRCm39) E953G probably benign Het
Dchs2 T A 3: 83,035,841 (GRCm39) M196K probably benign Het
Ddx10 G A 9: 53,159,207 (GRCm39) Q33* probably null Het
Dennd4b T A 3: 90,176,086 (GRCm39) V201E probably damaging Het
Fbn2 T A 18: 58,246,420 (GRCm39) H494L probably benign Het
Fxr1 A G 3: 34,108,452 (GRCm39) D321G possibly damaging Het
Galm A G 17: 80,489,053 (GRCm39) H233R probably benign Het
Gm7298 A G 6: 121,752,768 (GRCm39) T837A probably benign Het
Gmppa C G 1: 75,418,391 (GRCm39) S258C possibly damaging Het
Hk1 T G 10: 62,116,910 (GRCm39) E645A probably damaging Het
Igkv1-132 A G 6: 67,737,324 (GRCm39) T97A probably damaging Het
Kcnc1 T C 7: 46,084,716 (GRCm39) F547L probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lingo2 T A 4: 35,709,566 (GRCm39) E138V probably damaging Het
Myb T C 10: 21,020,865 (GRCm39) probably null Het
Mybl1 A G 1: 9,753,353 (GRCm39) V243A probably benign Het
Mylk4 C T 13: 32,912,393 (GRCm39) S189N probably benign Het
Or13c7 T A 4: 43,855,206 (GRCm39) L299* probably null Het
Or2y16 A G 11: 49,335,169 (GRCm39) M164V probably benign Het
Or4k77 A T 2: 111,199,394 (GRCm39) Q139L probably benign Het
Or4x12-ps1 A T 2: 89,915,953 (GRCm39) I284N probably damaging Het
Or5w1b A G 2: 87,475,667 (GRCm39) Y267H probably benign Het
Or8g19 A T 9: 39,055,506 (GRCm39) I37F probably benign Het
Oxld1 A T 11: 120,347,650 (GRCm39) D182E probably damaging Het
Phf13 A T 4: 152,076,017 (GRCm39) L295Q probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prss33 A G 17: 24,053,813 (GRCm39) L88P possibly damaging Het
Ralgds A G 2: 28,438,448 (GRCm39) Y596C probably damaging Het
Rftn2 A G 1: 55,233,418 (GRCm39) I379T possibly damaging Het
Rnf214 C T 9: 45,807,403 (GRCm39) E267K probably damaging Het
Rpp14 T C 14: 8,083,717 (GRCm38) probably benign Het
Rpusd2 A G 2: 118,865,876 (GRCm39) Y191C probably damaging Het
Serpinb9c T A 13: 33,341,807 (GRCm39) M1L probably benign Het
Shroom3 A G 5: 93,088,795 (GRCm39) D434G probably damaging Het
Smc5 G A 19: 23,192,010 (GRCm39) S888L probably benign Het
Suv39h2 C T 2: 3,465,458 (GRCm39) R299K probably benign Het
Trappc4 A T 9: 44,315,685 (GRCm39) I176N probably damaging Het
Trim12c A T 7: 103,997,337 (GRCm39) V73E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly 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
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
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'- CACAGATTGGTTCCATGGCTG -3'
(R):5'- TGCCACATGAAGATGGTTAGTG -3'

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