Incidental Mutation 'IGL01458:Fzd4'
ID84892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd4
Ensembl Gene ENSMUSG00000049791
Gene Namefrizzled class receptor 4
SynonymsFz4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.909) question?
Stock #IGL01458
Quality Score
Status
Chromosome7
Chromosomal Location89404355-89413134 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89404735 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 17 (V17I)
Ref Sequence ENSEMBL: ENSMUSP00000049852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058755]
Predicted Effect unknown
Transcript: ENSMUST00000058755
AA Change: V17I
SMART Domains Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: V17I

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
FRI 44 163 2.08e-72 SMART
Frizzled 209 514 5.75e-204 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124477
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Bloc1s6 T A 2: 122,744,215 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Csn2 T C 5: 87,696,020 probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1118 C T 2: 87,309,482 T251I probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr389 A T 11: 73,776,706 I207N probably benign Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Vps37c T C 19: 10,710,417 C81R probably damaging Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Fzd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Fzd4 APN 7 89407735 missense probably damaging 0.99
IGL02858:Fzd4 APN 7 89407954 missense probably damaging 1.00
IGL03393:Fzd4 APN 7 89407297 missense probably benign 0.00
R1869:Fzd4 UTSW 7 89407246 missense probably benign 0.01
R4639:Fzd4 UTSW 7 89407317 missense probably benign 0.24
R4762:Fzd4 UTSW 7 89407716 missense probably damaging 0.99
R4880:Fzd4 UTSW 7 89407901 missense probably benign 0.00
R5135:Fzd4 UTSW 7 89407501 missense probably damaging 1.00
R5279:Fzd4 UTSW 7 89407673 missense probably benign 0.08
R5440:Fzd4 UTSW 7 89408118 nonsense probably null
R5487:Fzd4 UTSW 7 89407407 missense probably benign 0.00
R6021:Fzd4 UTSW 7 89407734 missense probably benign 0.31
R6193:Fzd4 UTSW 7 89407989 nonsense probably null
R6221:Fzd4 UTSW 7 89404892 missense probably damaging 0.99
R6651:Fzd4 UTSW 7 89404802 missense possibly damaging 0.72
R7549:Fzd4 UTSW 7 89407138 missense possibly damaging 0.77
R7560:Fzd4 UTSW 7 89407553 nonsense probably null
R7575:Fzd4 UTSW 7 89407710 missense possibly damaging 0.88
R7731:Fzd4 UTSW 7 89408050 missense possibly damaging 0.87
R7753:Fzd4 UTSW 7 89407784 nonsense probably null
Z1177:Fzd4 UTSW 7 89407250 frame shift probably null
Posted On2013-11-11