Incidental Mutation 'IGL02087:Wnt3'
ID279286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt3
Ensembl Gene ENSMUSG00000000125
Gene Namewingless-type MMTV integration site family, member 3
SynonymsInt-4, Wnt-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02087
Quality Score
Status
Chromosome11
Chromosomal Location103774150-103817957 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103812359 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 223 (A223T)
Ref Sequence ENSEMBL: ENSMUSP00000000127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000127]
Predicted Effect probably benign
Transcript: ENSMUST00000000127
AA Change: A223T

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000127
Gene: ENSMUSG00000000125
AA Change: A223T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
WNT1 47 355 1.24e-216 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants develop to the egg cylinder stage, but fail to form a primitive streak, mesoderm, or node, and die by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl C T 5: 130,011,601 W450* probably null Het
Copg1 T C 6: 87,902,210 Y413H possibly damaging Het
Ctsll3 G T 13: 60,799,609 H254Q possibly damaging Het
Ebf2 A G 14: 67,428,096 T568A probably benign Het
Etnppl C A 3: 130,626,545 S8R probably benign Het
Fry C A 5: 150,403,594 N1248K probably benign Het
Gm13089 A T 4: 143,697,074 Y382N probably damaging Het
Gpr55 A C 1: 85,941,247 I204S probably damaging Het
Hyal5 T A 6: 24,876,725 M199K probably damaging Het
Ighg2c T C 12: 113,285,366 probably benign Het
Itga4 A G 2: 79,292,069 D542G probably damaging Het
Itgb2 T G 10: 77,559,696 Y544D possibly damaging Het
Lamb2 A G 9: 108,487,119 N1086D possibly damaging Het
Lhx2 C T 2: 38,368,837 probably benign Het
Nlrp4c T G 7: 6,092,583 L820R probably damaging Het
Olfr493 T A 7: 108,346,966 H5L probably benign Het
Phf20l1 C T 15: 66,628,991 S578F probably damaging Het
Ptpn3 A T 4: 57,222,019 D557E probably damaging Het
Slc6a6 G A 6: 91,735,179 V230I probably benign Het
Stap2 T C 17: 56,005,473 H20R probably damaging Het
Sult1c1 T C 17: 53,972,040 T83A possibly damaging Het
Tspyl2 A T X: 152,339,107 D501E probably damaging Het
Unc13b A G 4: 43,091,270 K32R probably null Het
Zfpm2 A T 15: 41,103,121 N869Y probably damaging Het
Zranb1 T C 7: 132,973,417 probably benign Het
Other mutations in Wnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Wnt3 APN 11 103808314 missense possibly damaging 0.81
IGL01645:Wnt3 APN 11 103812378 missense probably benign 0.00
IGL01989:Wnt3 APN 11 103812407 missense probably benign 0.44
IGL02525:Wnt3 APN 11 103812470 missense probably damaging 1.00
R0494:Wnt3 UTSW 11 103812315 missense probably damaging 1.00
R0615:Wnt3 UTSW 11 103812381 missense possibly damaging 0.68
R1438:Wnt3 UTSW 11 103808251 missense probably damaging 1.00
R2058:Wnt3 UTSW 11 103812285 missense probably damaging 0.97
R2127:Wnt3 UTSW 11 103812648 missense possibly damaging 0.82
R2128:Wnt3 UTSW 11 103812648 missense possibly damaging 0.82
R4470:Wnt3 UTSW 11 103812624 missense probably damaging 0.99
R4878:Wnt3 UTSW 11 103808205 missense possibly damaging 0.88
R5616:Wnt3 UTSW 11 103812770 critical splice donor site probably null
R6052:Wnt3 UTSW 11 103808174 nonsense probably null
R6472:Wnt3 UTSW 11 103808274 missense possibly damaging 0.89
R6687:Wnt3 UTSW 11 103812585 missense probably damaging 1.00
R7652:Wnt3 UTSW 11 103812464 missense possibly damaging 0.83
R7760:Wnt3 UTSW 11 103811440 missense probably benign 0.01
Posted On2015-04-16