Incidental Mutation 'IGL01458:Fzd4'
ID 84892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzd4
Ensembl Gene ENSMUSG00000049791
Gene Name frizzled class receptor 4
Synonyms Fz4
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # IGL01458
Quality Score
Status
Chromosome 7
Chromosomal Location 89053574-89062341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89053943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 17 (V17I)
Ref Sequence ENSEMBL: ENSMUSP00000049852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058755]
AlphaFold Q61088
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 (GRCm39) noncoding transcript Het
Akap12 A G 10: 4,304,060 (GRCm39) E290G probably damaging Het
Akap6 T A 12: 52,933,601 (GRCm39) C364* probably null Het
Akr1c18 A T 13: 4,187,143 (GRCm39) Y198N probably damaging Het
Aurka T C 2: 172,210,899 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,135 (GRCm39) probably null Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Csn2 T C 5: 87,843,879 (GRCm39) probably benign Het
Dsc1 T C 18: 20,232,195 (GRCm39) E271G probably damaging Het
Eif1ad4 A T 12: 87,862,158 (GRCm39) K7* probably null Het
Evi5 G A 5: 107,963,513 (GRCm39) A354V probably damaging Het
Fcer2a T A 8: 3,738,151 (GRCm39) R137S probably benign Het
Fto A G 8: 92,168,344 (GRCm39) T266A probably benign Het
Gadd45b T C 10: 80,767,075 (GRCm39) L105P probably damaging Het
Galntl6 T C 8: 58,880,743 (GRCm39) S137G probably damaging Het
Gpr135 T C 12: 72,116,442 (GRCm39) M442V probably benign Het
Kcnq1 T A 7: 142,748,015 (GRCm39) Y330* probably null Het
Kdm5b A G 1: 134,549,724 (GRCm39) R1106G possibly damaging Het
Lrrc8e C T 8: 4,286,141 (GRCm39) R789W probably damaging Het
Myo16 T C 8: 10,485,853 (GRCm39) L644P probably damaging Het
Nbeal1 G T 1: 60,281,784 (GRCm39) probably null Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10ag56 C T 2: 87,139,826 (GRCm39) T251I probably damaging Het
Or1e29 A T 11: 73,667,532 (GRCm39) I207N probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Ovgp1 A G 3: 105,882,307 (GRCm39) N70D probably benign Het
Panx3 A T 9: 37,572,443 (GRCm39) M369K probably damaging Het
Plet1 A G 9: 50,406,017 (GRCm39) N52S probably benign Het
Prss1l T G 6: 41,373,621 (GRCm39) D161E probably benign Het
Psg18 A T 7: 18,088,741 (GRCm39) M1K probably null Het
Ptprz1 A T 6: 22,972,843 (GRCm39) D251V probably damaging Het
Serpinb6a A G 13: 34,114,064 (GRCm39) Y88H possibly damaging Het
Siglecf G A 7: 43,004,562 (GRCm39) R297Q possibly damaging Het
Tbx15 T C 3: 99,223,544 (GRCm39) V244A probably damaging Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Trim39 A G 17: 36,574,855 (GRCm39) probably benign Het
Vps37c T C 19: 10,687,781 (GRCm39) C81R probably damaging Het
Wdr62 A T 7: 29,941,187 (GRCm39) S744T probably benign Het
Zyg11a G A 4: 108,062,099 (GRCm39) T234I probably damaging Het
Other mutations in Fzd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Fzd4 APN 7 89,056,943 (GRCm39) missense probably damaging 0.99
IGL02858:Fzd4 APN 7 89,057,162 (GRCm39) missense probably damaging 1.00
IGL03393:Fzd4 APN 7 89,056,505 (GRCm39) missense probably benign 0.00
R1869:Fzd4 UTSW 7 89,056,454 (GRCm39) missense probably benign 0.01
R4639:Fzd4 UTSW 7 89,056,525 (GRCm39) missense probably benign 0.24
R4762:Fzd4 UTSW 7 89,056,924 (GRCm39) missense probably damaging 0.99
R4880:Fzd4 UTSW 7 89,057,109 (GRCm39) missense probably benign 0.00
R5135:Fzd4 UTSW 7 89,056,709 (GRCm39) missense probably damaging 1.00
R5279:Fzd4 UTSW 7 89,056,881 (GRCm39) missense probably benign 0.08
R5440:Fzd4 UTSW 7 89,057,326 (GRCm39) nonsense probably null
R5487:Fzd4 UTSW 7 89,056,615 (GRCm39) missense probably benign 0.00
R6021:Fzd4 UTSW 7 89,056,942 (GRCm39) missense probably benign 0.31
R6193:Fzd4 UTSW 7 89,057,197 (GRCm39) nonsense probably null
R6221:Fzd4 UTSW 7 89,054,100 (GRCm39) missense probably damaging 0.99
R6651:Fzd4 UTSW 7 89,054,010 (GRCm39) missense possibly damaging 0.72
R7549:Fzd4 UTSW 7 89,056,346 (GRCm39) missense possibly damaging 0.77
R7560:Fzd4 UTSW 7 89,056,761 (GRCm39) nonsense probably null
R7575:Fzd4 UTSW 7 89,056,918 (GRCm39) missense possibly damaging 0.88
R7731:Fzd4 UTSW 7 89,057,258 (GRCm39) missense possibly damaging 0.87
R7753:Fzd4 UTSW 7 89,056,992 (GRCm39) nonsense probably null
R8945:Fzd4 UTSW 7 89,056,792 (GRCm39) missense possibly damaging 0.95
R9320:Fzd4 UTSW 7 89,056,912 (GRCm39) missense probably damaging 1.00
Z1177:Fzd4 UTSW 7 89,056,458 (GRCm39) frame shift probably null
Posted On 2013-11-11