Incidental Mutation 'R6161:Fbxw8'
ID 489863
Institutional Source Beutler Lab
Gene Symbol Fbxw8
Ensembl Gene ENSMUSG00000032867
Gene Name F-box and WD-40 domain protein 8
Synonyms 4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.546) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118203046-118293523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118230740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 354 (T354A)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
AlphaFold Q8BIA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049474
AA Change: T354A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: T354A

DomainStartEndE-ValueType
low complexity region 16 39 N/A INTRINSIC
low complexity region 51 75 N/A INTRINSIC
low complexity region 76 91 N/A INTRINSIC
FBOX 119 159 5e-5 SMART
WD40 198 236 6.16e0 SMART
WD40 248 285 7.1e1 SMART
WD40 289 327 7.36e1 SMART
Blast:WD40 373 418 2e-8 BLAST
WD40 421 461 1.6e0 SMART
WD40 464 501 2.15e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201545
Meta Mutation Damage Score 0.1239 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W probably damaging Het
Other mutations in Fbxw8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Fbxw8 APN 5 118,206,162 (GRCm39) missense probably benign 0.00
IGL00435:Fbxw8 APN 5 118,206,202 (GRCm39) missense probably benign 0.01
IGL00674:Fbxw8 APN 5 118,233,658 (GRCm39) missense possibly damaging 0.94
IGL01306:Fbxw8 APN 5 118,251,785 (GRCm39) missense possibly damaging 0.88
IGL02389:Fbxw8 APN 5 118,267,020 (GRCm39) missense possibly damaging 0.57
IGL02438:Fbxw8 APN 5 118,233,758 (GRCm39) missense probably benign 0.09
IGL02553:Fbxw8 APN 5 118,204,125 (GRCm39) unclassified probably benign
IGL02752:Fbxw8 APN 5 118,280,815 (GRCm39) missense probably damaging 1.00
IGL02975:Fbxw8 APN 5 118,215,760 (GRCm39) missense probably benign 0.02
IGL03177:Fbxw8 APN 5 118,267,045 (GRCm39) splice site probably benign
IGL03333:Fbxw8 APN 5 118,233,660 (GRCm39) missense possibly damaging 0.94
IGL03407:Fbxw8 APN 5 118,280,741 (GRCm39) missense probably damaging 1.00
ANU23:Fbxw8 UTSW 5 118,251,785 (GRCm39) missense possibly damaging 0.88
R0135:Fbxw8 UTSW 5 118,208,552 (GRCm39) missense probably damaging 1.00
R0760:Fbxw8 UTSW 5 118,203,966 (GRCm39) splice site probably null
R1115:Fbxw8 UTSW 5 118,215,636 (GRCm39) splice site probably benign
R1498:Fbxw8 UTSW 5 118,203,850 (GRCm39) unclassified probably benign
R1689:Fbxw8 UTSW 5 118,215,682 (GRCm39) missense probably damaging 0.97
R1897:Fbxw8 UTSW 5 118,266,941 (GRCm39) missense probably benign 0.16
R2160:Fbxw8 UTSW 5 118,263,053 (GRCm39) missense probably damaging 1.00
R2345:Fbxw8 UTSW 5 118,203,872 (GRCm39) unclassified probably benign
R3743:Fbxw8 UTSW 5 118,251,704 (GRCm39) missense probably damaging 1.00
R3935:Fbxw8 UTSW 5 118,233,783 (GRCm39) missense probably benign 0.38
R4910:Fbxw8 UTSW 5 118,263,092 (GRCm39) splice site probably null
R5220:Fbxw8 UTSW 5 118,233,776 (GRCm39) missense possibly damaging 0.69
R5628:Fbxw8 UTSW 5 118,230,622 (GRCm39) missense probably damaging 1.00
R6184:Fbxw8 UTSW 5 118,251,814 (GRCm39) missense probably damaging 1.00
R6582:Fbxw8 UTSW 5 118,263,028 (GRCm39) missense probably benign 0.28
R6617:Fbxw8 UTSW 5 118,280,731 (GRCm39) critical splice donor site probably null
R6785:Fbxw8 UTSW 5 118,230,754 (GRCm39) missense probably damaging 1.00
R7363:Fbxw8 UTSW 5 118,263,057 (GRCm39) missense probably damaging 0.97
R7395:Fbxw8 UTSW 5 118,206,280 (GRCm39) missense probably damaging 1.00
R7674:Fbxw8 UTSW 5 118,263,036 (GRCm39) nonsense probably null
R8428:Fbxw8 UTSW 5 118,215,763 (GRCm39) missense probably benign 0.02
R9161:Fbxw8 UTSW 5 118,251,727 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTTGTTAATGTATACATGCCACTG -3'
(R):5'- CCTTCTCAGAGTGCACTTGG -3'

Sequencing Primer
(F):5'- AATGTATACATGCCACTGTTTCC -3'
(R):5'- CAGAGTGCACTTGGTTTTCAC -3'
Posted On 2017-10-10