Incidental Mutation 'IGL00571:Fzd8'
ID332659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Namefrizzled class receptor 8
SynonymsmFZ8, Fz8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00571
Quality Score
Status
Chromosome18
Chromosomal Location9212856-9216201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9213068 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 50 (Y50F)
Ref Sequence ENSEMBL: ENSMUSP00000039660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041080]
PDB Structure
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000041080
AA Change: Y50F
SMART Domains Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: Y50F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FRI 34 153 9.06e-73 SMART
low complexity region 161 228 N/A INTRINSIC
Frizzled 264 621 1.47e-219 SMART
low complexity region 624 655 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7420426K07Rik A C 9: 98,903,686 T135P possibly damaging Het
Abr T G 11: 76,468,740 S180R probably benign Het
Atrn G T 2: 130,995,048 R1144L probably damaging Het
Dsc1 G T 18: 20,110,138 S86Y probably damaging Het
Ets2 C A 16: 95,712,141 N120K probably benign Het
Fas A T 19: 34,318,618 T154S probably damaging Het
Fbxo41 T C 6: 85,478,102 probably null Het
Hmcn1 C T 1: 150,638,999 V3541I probably benign Het
Il6st G A 13: 112,487,860 V215M probably damaging Het
Kif13b G A 14: 64,746,417 V581M probably damaging Het
Liph A G 16: 21,968,140 F242S probably damaging Het
Nacc2 T C 2: 26,089,690 T245A probably benign Het
Nlrp1b C T 11: 71,163,973 D889N probably null Het
Parp4 T A 14: 56,647,353 S1296R unknown Het
Sec24a G A 11: 51,736,504 Q194* probably null Het
Slco6c1 T C 1: 97,087,951 N372D probably benign Het
Sprr2a3 T A 3: 92,288,767 Y60* probably null Het
Tdrd6 T A 17: 43,628,160 I666F probably damaging Het
Tlr1 T C 5: 64,926,434 I267V probably benign Het
Tmtc2 A G 10: 105,321,446 I633T possibly damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Uspl1 A G 5: 149,188,360 K26E probably damaging Het
Zfp639 A G 3: 32,519,919 D231G probably damaging Het
Other mutations in Fzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Fzd8 APN 18 9213293 missense unknown
IGL03129:Fzd8 APN 18 9214270 missense probably damaging 1.00
Stilt UTSW 18 9213880 missense probably damaging 1.00
R0058:Fzd8 UTSW 18 9213985 missense possibly damaging 0.92
R0715:Fzd8 UTSW 18 9212947 missense unknown
R0966:Fzd8 UTSW 18 9214745 missense probably damaging 0.99
R1717:Fzd8 UTSW 18 9214364 missense probably damaging 1.00
R1751:Fzd8 UTSW 18 9213643 missense probably damaging 0.98
R1761:Fzd8 UTSW 18 9213643 missense probably damaging 0.98
R1905:Fzd8 UTSW 18 9213803 missense probably damaging 1.00
R1956:Fzd8 UTSW 18 9214502 missense probably damaging 1.00
R2892:Fzd8 UTSW 18 9214514 missense probably damaging 1.00
R3897:Fzd8 UTSW 18 9214939 missense possibly damaging 0.89
R3968:Fzd8 UTSW 18 9214070 missense probably damaging 0.98
R4934:Fzd8 UTSW 18 9214492 frame shift probably null
R5366:Fzd8 UTSW 18 9213880 missense probably damaging 1.00
R5624:Fzd8 UTSW 18 9213268 missense unknown
R6261:Fzd8 UTSW 18 9214598 missense possibly damaging 0.61
R6757:Fzd8 UTSW 18 9213238 missense possibly damaging 0.78
R6758:Fzd8 UTSW 18 9213238 missense possibly damaging 0.78
R6899:Fzd8 UTSW 18 9214729 missense probably damaging 0.98
R7242:Fzd8 UTSW 18 9214171 missense probably damaging 1.00
R8140:Fzd8 UTSW 18 9213797 missense probably damaging 1.00
Posted On2015-08-05