Incidental Mutation 'R7883:Fbxw18'
ID 608898
Institutional Source Beutler Lab
Gene Symbol Fbxw18
Ensembl Gene ENSMUSG00000074059
Gene Name F-box and WD-40 domain protein 18
Synonyms
MMRRC Submission 045935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7883 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 109505802-109531768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109517474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 410 (Y410H)
Ref Sequence ENSEMBL: ENSMUSP00000095962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098359]
AlphaFold Q3TSA9
Predicted Effect probably damaging
Transcript: ENSMUST00000098359
AA Change: Y410H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: Y410H

DomainStartEndE-ValueType
FBOX 8 48 4.13e-6 SMART
Blast:WD40 140 179 2e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik A T 4: 124,744,440 (GRCm39) W5R unknown Het
Abcb6 A T 1: 75,154,660 (GRCm39) S258R possibly damaging Het
Abcc10 A G 17: 46,618,027 (GRCm39) V1082A probably benign Het
Adrb2 A G 18: 62,312,447 (GRCm39) V126A probably damaging Het
Apol11a A G 15: 77,400,774 (GRCm39) E87G probably damaging Het
Arhgap45 T A 10: 79,863,423 (GRCm39) C755* probably null Het
Arl13b A T 16: 62,647,629 (GRCm39) I93K probably damaging Het
Aspm A G 1: 139,406,405 (GRCm39) K1764R possibly damaging Het
Atp8b5 A G 4: 43,342,471 (GRCm39) I381V probably damaging Het
Atxn2 A G 5: 121,940,180 (GRCm39) H985R possibly damaging Het
Bms1 G T 6: 118,365,735 (GRCm39) N1150K probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta2 T C 11: 70,566,037 (GRCm39) D749G probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cep152 G A 2: 125,454,978 (GRCm39) A274V possibly damaging Het
Chd7 A G 4: 8,826,504 (GRCm39) N956S probably damaging Het
Cpt1c A T 7: 44,613,438 (GRCm39) probably null Het
Cttn C T 7: 143,999,555 (GRCm39) V338I probably benign Het
Dab2ip G A 2: 35,610,218 (GRCm39) G811D possibly damaging Het
Dmtf1 T C 5: 9,190,397 (GRCm39) T106A probably benign Het
Dync2h1 T C 9: 7,005,566 (GRCm39) E3768G possibly damaging Het
Exoc1 T A 5: 76,709,229 (GRCm39) D612E probably damaging Het
Fat2 T C 11: 55,144,190 (GRCm39) probably null Het
Fat4 G A 3: 39,035,968 (GRCm39) E3207K probably damaging Het
Fgfr3 T A 5: 33,891,235 (GRCm39) S518T probably damaging Het
Fzr1 G A 10: 81,204,469 (GRCm39) T377M probably damaging Het
Gcnt3 T A 9: 69,941,453 (GRCm39) I372F probably damaging Het
Gm10577 A T 4: 100,877,719 (GRCm39) Y59N unknown Het
Gm826 A G 2: 160,169,213 (GRCm39) L32P unknown Het
Grid1 T G 14: 35,172,259 (GRCm39) probably null Het
Hid1 T A 11: 115,245,435 (GRCm39) T457S probably damaging Het
Hsd3b5 A G 3: 98,529,456 (GRCm39) V58A probably benign Het
Iqcj A G 3: 67,954,641 (GRCm39) K49E probably damaging Het
Itpk1 A G 12: 102,572,434 (GRCm39) V93A probably benign Het
Kcnt2 A G 1: 140,450,888 (GRCm39) I722M probably damaging Het
Klhl36 T C 8: 120,601,217 (GRCm39) V412A possibly damaging Het
Krt18 G A 15: 101,936,885 (GRCm39) V58M possibly damaging Het
Lats2 T C 14: 57,934,657 (GRCm39) Y691C probably damaging Het
Lrp1b A T 2: 40,555,141 (GRCm39) I4095N Het
Map1a A G 2: 121,135,853 (GRCm39) E2223G probably damaging Het
Med25 A G 7: 44,541,232 (GRCm39) F94L possibly damaging Het
Mertk A G 2: 128,618,265 (GRCm39) I499V probably benign Het
Mrps12 A G 7: 28,439,568 (GRCm39) L49P probably benign Het
Nwd1 T A 8: 73,393,754 (GRCm39) V339D probably damaging Het
Obscn G A 11: 58,960,835 (GRCm39) Q3159* probably null Het
Patj G A 4: 98,499,372 (GRCm39) V1349I probably benign Het
Pcdha8 T A 18: 37,126,196 (GRCm39) V226D probably damaging Het
Pdgfd T A 9: 6,293,939 (GRCm39) probably null Het
Pdzd7 A C 19: 45,018,679 (GRCm39) I600S probably damaging Het
Pgpep1l G A 7: 67,888,897 (GRCm39) R45* probably null Het
Pik3c3 T C 18: 30,407,416 (GRCm39) S55P probably benign Het
Pkhd1l1 A T 15: 44,392,522 (GRCm39) D1619V probably damaging Het
Pkp1 A G 1: 135,812,641 (GRCm39) probably null Het
Ppan T A 9: 20,802,777 (GRCm39) I311N probably benign Het
Ppih C A 4: 119,167,987 (GRCm39) G175W probably damaging Het
Ppp1r8 G T 4: 132,562,026 (GRCm39) Q65K probably damaging Het
Psmd5 T A 2: 34,746,524 (GRCm39) K351M possibly damaging Het
Pth1r T C 9: 110,560,626 (GRCm39) K53R probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Rgl3 T C 9: 21,892,723 (GRCm39) I288V probably benign Het
Sds A G 5: 120,617,278 (GRCm39) I45V possibly damaging Het
Sfxn4 A T 19: 60,847,187 (GRCm39) probably null Het
Sis A T 3: 72,828,329 (GRCm39) C1220S possibly damaging Het
Slc22a16 T G 10: 40,479,660 (GRCm39) D577E probably benign Het
Slc25a10 T A 11: 120,385,340 (GRCm39) M43K possibly damaging Het
Smpd1 T C 7: 105,206,192 (GRCm39) I440T probably damaging Het
Spata6l A C 19: 28,906,013 (GRCm39) S297A probably benign Het
St6galnac6 A G 2: 32,504,941 (GRCm39) N151S probably benign Het
Taf4 G T 2: 179,571,088 (GRCm39) L742M probably damaging Het
Tctn1 A G 5: 122,402,375 (GRCm39) S20P possibly damaging Het
Tkfc A T 19: 10,572,394 (GRCm39) probably null Het
Tmem270 A G 5: 134,931,681 (GRCm39) V87A possibly damaging Het
Tpo T C 12: 30,153,169 (GRCm39) H395R probably damaging Het
Tufm T C 7: 126,088,114 (GRCm39) F206L possibly damaging Het
Tulp2 A G 7: 45,166,188 (GRCm39) probably null Het
Tulp3 G A 6: 128,303,807 (GRCm39) T264M probably damaging Het
Uqcrc2 A G 7: 120,244,440 (GRCm39) D194G possibly damaging Het
Vill C A 9: 118,894,589 (GRCm39) C415* probably null Het
Zfp799 A G 17: 33,039,256 (GRCm39) C337R probably damaging Het
Zhx2 A G 15: 57,685,270 (GRCm39) E213G possibly damaging Het
Other mutations in Fbxw18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Fbxw18 APN 9 109,522,411 (GRCm39) missense probably benign 0.00
IGL00820:Fbxw18 APN 9 109,522,437 (GRCm39) missense probably damaging 1.00
IGL01447:Fbxw18 APN 9 109,530,675 (GRCm39) missense probably damaging 1.00
IGL01511:Fbxw18 APN 9 109,517,889 (GRCm39) missense possibly damaging 0.83
IGL01956:Fbxw18 APN 9 109,522,425 (GRCm39) missense probably damaging 0.98
IGL02089:Fbxw18 APN 9 109,530,390 (GRCm39) missense probably benign 0.00
PIT4810001:Fbxw18 UTSW 9 109,505,958 (GRCm39) nonsense probably null
R0004:Fbxw18 UTSW 9 109,530,381 (GRCm39) missense probably damaging 0.96
R0124:Fbxw18 UTSW 9 109,520,583 (GRCm39) missense probably benign 0.00
R0375:Fbxw18 UTSW 9 109,517,907 (GRCm39) missense possibly damaging 0.63
R1652:Fbxw18 UTSW 9 109,519,695 (GRCm39) missense probably benign 0.35
R2153:Fbxw18 UTSW 9 109,522,438 (GRCm39) missense probably damaging 1.00
R2294:Fbxw18 UTSW 9 109,505,865 (GRCm39) missense probably damaging 1.00
R3738:Fbxw18 UTSW 9 109,517,981 (GRCm39) missense possibly damaging 0.57
R4706:Fbxw18 UTSW 9 109,519,585 (GRCm39) missense probably benign 0.00
R4982:Fbxw18 UTSW 9 109,531,719 (GRCm39) start gained probably benign
R4990:Fbxw18 UTSW 9 109,517,461 (GRCm39) missense probably damaging 0.99
R5314:Fbxw18 UTSW 9 109,522,246 (GRCm39) missense possibly damaging 0.90
R5520:Fbxw18 UTSW 9 109,520,589 (GRCm39) missense probably benign 0.00
R5634:Fbxw18 UTSW 9 109,505,871 (GRCm39) missense possibly damaging 0.49
R5718:Fbxw18 UTSW 9 109,520,636 (GRCm39) missense probably benign 0.01
R5894:Fbxw18 UTSW 9 109,529,235 (GRCm39) missense possibly damaging 0.83
R5928:Fbxw18 UTSW 9 109,529,149 (GRCm39) missense probably damaging 0.99
R6175:Fbxw18 UTSW 9 109,505,947 (GRCm39) missense probably damaging 1.00
R6696:Fbxw18 UTSW 9 109,517,832 (GRCm39) missense probably benign 0.09
R6944:Fbxw18 UTSW 9 109,531,655 (GRCm39) missense probably damaging 1.00
R7396:Fbxw18 UTSW 9 109,517,954 (GRCm39) missense probably benign 0.19
R7737:Fbxw18 UTSW 9 109,530,331 (GRCm39) nonsense probably null
R9002:Fbxw18 UTSW 9 109,519,660 (GRCm39) missense probably damaging 1.00
R9053:Fbxw18 UTSW 9 109,517,491 (GRCm39) missense probably benign 0.02
R9782:Fbxw18 UTSW 9 109,522,376 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TACTTTCAATGCATTGATGTGAGGG -3'
(R):5'- AGATCTTGAGACTATGGGTGGTAC -3'

Sequencing Primer
(F):5'- TGGAACCCAAGTCCTCTGGAAG -3'
(R):5'- TGGAGCACTTTCAGAGTCCAG -3'
Posted On 2019-12-20