Incidental Mutation 'IGL01294:Wnt3'
ID73024
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 #IGL01294
Quality Score
Status
Chromosome11
Chromosomal Location103774150-103817957 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103808314 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 82 (H82L)
Ref Sequence ENSEMBL: ENSMUSP00000000127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000127]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000127
AA Change: H82L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000127
Gene: ENSMUSG00000000125
AA Change: H82L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 128,237,119 S101T probably benign Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arglu1 G T 8: 8,683,739 probably benign Het
Cacna2d2 T G 9: 107,514,081 Y436D probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cpne8 G A 15: 90,501,445 S460L probably damaging Het
Crat G A 2: 30,405,187 A436V probably damaging Het
Dmd T C X: 84,431,998 probably null Het
Emilin2 G T 17: 71,274,594 A379E probably benign Het
Ercc2 A G 7: 19,390,417 I445V probably benign Het
Evc2 T C 5: 37,347,510 probably null Het
Filip1l A T 16: 57,572,348 K1100* probably null Het
Gm4353 T A 7: 116,083,842 D168V possibly damaging Het
H2afy A T 13: 56,074,300 V346E probably damaging Het
Hsf4 G T 8: 105,275,657 *417L probably null Het
Kmt2a A G 9: 44,820,297 probably benign Het
Mpzl1 A G 1: 165,593,608 S261P probably damaging Het
Mre11a T C 9: 14,830,915 S621P probably damaging Het
Muc6 T C 7: 141,646,659 Y934C probably damaging Het
Naip5 A G 13: 100,217,080 S1224P probably damaging Het
Nwd1 A T 8: 72,711,745 N1474Y probably damaging Het
Olfr704 T C 7: 106,865,763 L261S probably damaging Het
Ptbp2 A G 3: 119,747,812 V192A probably damaging Het
Rfx2 T C 17: 56,783,657 Y421C probably damaging Het
Sfmbt2 T A 2: 10,590,421 probably benign Het
Slc4a10 A C 2: 62,253,309 probably null Het
Slitrk6 T C 14: 110,750,074 M734V probably benign Het
Tap1 T C 17: 34,194,045 probably null Het
Tep1 A G 14: 50,829,657 probably benign Het
Uba6 T A 5: 86,150,048 I256L possibly damaging Het
Other mutations in Wnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Wnt3 APN 11 103812378 missense probably benign 0.00
IGL01989:Wnt3 APN 11 103812407 missense probably benign 0.44
IGL02087:Wnt3 APN 11 103812359 missense probably benign 0.34
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 On2013-10-07