Incidental Mutation 'IGL00571:Fzd8'
ID 332659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd8
Ensembl Gene ENSMUSG00000036904
Gene Name frizzled class receptor 8
Synonyms Fz8, mFZ8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00571
Quality Score
Status
Chromosome 18
Chromosomal Location 9212856-9216201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9213068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 50 (Y50F)
Ref Sequence ENSEMBL: ENSMUSP00000039660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041080]
AlphaFold Q61091
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
Abr T G 11: 76,359,566 (GRCm39) S180R probably benign Het
Atrn G T 2: 130,836,968 (GRCm39) R1144L probably damaging Het
Dsc1 G T 18: 20,243,195 (GRCm39) S86Y probably damaging Het
Ets2 C A 16: 95,513,185 (GRCm39) N120K probably benign Het
Fas A T 19: 34,296,018 (GRCm39) T154S probably damaging Het
Fbxo41 T C 6: 85,455,084 (GRCm39) probably null Het
Hmcn1 C T 1: 150,514,750 (GRCm39) V3541I probably benign Het
Il6st G A 13: 112,624,394 (GRCm39) V215M probably damaging Het
Kif13b G A 14: 64,983,866 (GRCm39) V581M probably damaging Het
Liph A G 16: 21,786,890 (GRCm39) F242S probably damaging Het
Nacc2 T C 2: 25,979,702 (GRCm39) T245A probably benign Het
Nlrp1b C T 11: 71,054,799 (GRCm39) D889N probably null Het
Parp4 T A 14: 56,884,810 (GRCm39) S1296R unknown Het
Prr23a4 A C 9: 98,785,739 (GRCm39) T135P possibly damaging Het
Sec24a G A 11: 51,627,331 (GRCm39) Q194* probably null Het
Slco6c1 T C 1: 97,015,676 (GRCm39) N372D probably benign Het
Sprr2a3 T A 3: 92,196,074 (GRCm39) Y60* probably null Het
Tdrd6 T A 17: 43,939,051 (GRCm39) I666F probably damaging Het
Tlr1 T C 5: 65,083,777 (GRCm39) I267V probably benign Het
Tmtc2 A G 10: 105,157,307 (GRCm39) I633T possibly damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Uspl1 A G 5: 149,125,170 (GRCm39) K26E probably damaging Het
Zfp639 A G 3: 32,574,068 (GRCm39) D231G probably damaging Het
Other mutations in Fzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Fzd8 APN 18 9,213,293 (GRCm39) missense unknown
IGL03129:Fzd8 APN 18 9,214,270 (GRCm39) missense probably damaging 1.00
Stilt UTSW 18 9,213,880 (GRCm39) missense probably damaging 1.00
R0058:Fzd8 UTSW 18 9,213,985 (GRCm39) missense possibly damaging 0.92
R0715:Fzd8 UTSW 18 9,212,947 (GRCm39) missense unknown
R0966:Fzd8 UTSW 18 9,214,745 (GRCm39) missense probably damaging 0.99
R1717:Fzd8 UTSW 18 9,214,364 (GRCm39) missense probably damaging 1.00
R1751:Fzd8 UTSW 18 9,213,643 (GRCm39) missense probably damaging 0.98
R1761:Fzd8 UTSW 18 9,213,643 (GRCm39) missense probably damaging 0.98
R1905:Fzd8 UTSW 18 9,213,803 (GRCm39) missense probably damaging 1.00
R1956:Fzd8 UTSW 18 9,214,502 (GRCm39) missense probably damaging 1.00
R2892:Fzd8 UTSW 18 9,214,514 (GRCm39) missense probably damaging 1.00
R3897:Fzd8 UTSW 18 9,214,939 (GRCm39) missense possibly damaging 0.89
R3968:Fzd8 UTSW 18 9,214,070 (GRCm39) missense probably damaging 0.98
R4934:Fzd8 UTSW 18 9,214,492 (GRCm39) frame shift probably null
R5366:Fzd8 UTSW 18 9,213,880 (GRCm39) missense probably damaging 1.00
R5624:Fzd8 UTSW 18 9,213,268 (GRCm39) missense unknown
R6261:Fzd8 UTSW 18 9,214,598 (GRCm39) missense possibly damaging 0.61
R6757:Fzd8 UTSW 18 9,213,238 (GRCm39) missense possibly damaging 0.78
R6758:Fzd8 UTSW 18 9,213,238 (GRCm39) missense possibly damaging 0.78
R6899:Fzd8 UTSW 18 9,214,729 (GRCm39) missense probably damaging 0.98
R7242:Fzd8 UTSW 18 9,214,171 (GRCm39) missense probably damaging 1.00
R8140:Fzd8 UTSW 18 9,213,797 (GRCm39) missense probably damaging 1.00
R8324:Fzd8 UTSW 18 9,214,688 (GRCm39) missense probably damaging 1.00
R8722:Fzd8 UTSW 18 9,213,686 (GRCm39) missense possibly damaging 0.67
R8818:Fzd8 UTSW 18 9,214,474 (GRCm39) missense probably benign 0.26
R8820:Fzd8 UTSW 18 9,213,247 (GRCm39) missense unknown
R8913:Fzd8 UTSW 18 9,213,869 (GRCm39) missense probably damaging 1.00
R9036:Fzd8 UTSW 18 9,214,661 (GRCm39) missense probably damaging 1.00
R9401:Fzd8 UTSW 18 9,213,205 (GRCm39) missense possibly damaging 0.78
Posted On 2015-08-05