Incidental Mutation 'IGL01989:Wnt3'
ID 182823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt3
Ensembl Gene ENSMUSG00000000125
Gene Name wingless-type MMTV integration site family, member 3
Synonyms Wnt-3, Int-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01989
Quality Score
Status
Chromosome 11
Chromosomal Location 103664976-103708783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103703233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 239 (D239N)
Ref Sequence ENSEMBL: ENSMUSP00000000127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000127]
AlphaFold P17553
Predicted Effect probably benign
Transcript: ENSMUST00000000127
AA Change: D239N

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000127
Gene: ENSMUSG00000000125
AA Change: D239N

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,266 (GRCm39) V8D probably damaging Het
Asb15 A G 6: 24,565,943 (GRCm39) T299A probably damaging Het
Asph A T 4: 9,602,462 (GRCm39) probably benign Het
Cadm3 G A 1: 173,165,578 (GRCm39) probably benign Het
Cep164 G A 9: 45,704,313 (GRCm39) probably benign Het
Ces2c C A 8: 105,576,375 (GRCm39) N129K probably damaging Het
Chdh C A 14: 29,753,688 (GRCm39) P199Q possibly damaging Het
Dnah7b T C 1: 46,328,694 (GRCm39) V3142A probably damaging Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Dock2 G T 11: 34,218,053 (GRCm39) N1172K probably benign Het
Dppa5a T A 9: 78,275,103 (GRCm39) E66D probably benign Het
F5 A G 1: 164,003,876 (GRCm39) S224G probably benign Het
Fign T C 2: 63,810,794 (GRCm39) T159A probably benign Het
Fsip2 A T 2: 82,824,211 (GRCm39) D6648V probably damaging Het
Gbp2b A T 3: 142,317,201 (GRCm39) E519V probably benign Het
Hdac10 A G 15: 89,009,546 (GRCm39) L462P probably damaging Het
Hecw2 A G 1: 53,879,951 (GRCm39) L1286S probably damaging Het
Hnrnpll A G 17: 80,346,169 (GRCm39) V364A probably benign Het
Hnrnpul2 A G 19: 8,800,992 (GRCm39) T282A probably damaging Het
Il12a T A 3: 68,598,909 (GRCm39) probably benign Het
Insl5 C A 4: 102,883,838 (GRCm39) V28L probably benign Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Lrfn2 A G 17: 49,378,113 (GRCm39) D398G probably damaging Het
Lrp1 C T 10: 127,413,998 (GRCm39) D1137N probably damaging Het
Mettl18 C A 1: 163,823,872 (GRCm39) D64E probably benign Het
Mrpl3 A G 9: 104,948,678 (GRCm39) T245A probably benign Het
Mrps18c C A 5: 100,949,775 (GRCm39) P52Q probably damaging Het
Myh3 A T 11: 66,977,481 (GRCm39) D377V probably damaging Het
N4bp1 C A 8: 87,575,115 (GRCm39) V727L probably damaging Het
Npffr2 A G 5: 89,730,831 (GRCm39) T254A probably benign Het
Nsfl1c C A 2: 151,342,649 (GRCm39) T73K probably damaging Het
Or8a1b C T 9: 37,623,132 (GRCm39) V148I probably damaging Het
Plxna1 C T 6: 89,306,396 (GRCm39) W1442* probably null Het
Serpina3n T A 12: 104,379,750 (GRCm39) M381K probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Smtnl1 T C 2: 84,648,814 (GRCm39) N147D probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Ssh2 A G 11: 77,344,511 (GRCm39) E832G possibly damaging Het
Stxbp1 T C 2: 32,702,076 (GRCm39) D207G probably benign Het
Sult1c2 A T 17: 54,281,055 (GRCm39) M16K probably benign Het
Tmem247 A G 17: 87,225,719 (GRCm39) E53G probably damaging Het
Tmem86a A T 7: 46,703,187 (GRCm39) I105F probably benign Het
Tph2 A G 10: 114,981,921 (GRCm39) S304P probably benign Het
Ttn T C 2: 76,608,883 (GRCm39) D17711G probably damaging Het
Urb1 A T 16: 90,566,474 (GRCm39) probably benign Het
Vcan T A 13: 89,837,478 (GRCm39) I1729L possibly damaging Het
Vmn2r90 T A 17: 17,933,494 (GRCm39) Y351* probably null Het
Wfdc5 C T 2: 164,020,651 (GRCm39) probably null Het
Zbtb8b T A 4: 129,326,181 (GRCm39) E295V probably damaging Het
Zfp458 T C 13: 67,407,691 (GRCm39) T52A probably damaging Het
Other mutations in Wnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Wnt3 APN 11 103,699,140 (GRCm39) missense possibly damaging 0.81
IGL01645:Wnt3 APN 11 103,703,204 (GRCm39) missense probably benign 0.00
IGL02087:Wnt3 APN 11 103,703,185 (GRCm39) missense probably benign 0.34
IGL02525:Wnt3 APN 11 103,703,296 (GRCm39) missense probably damaging 1.00
R0494:Wnt3 UTSW 11 103,703,141 (GRCm39) missense probably damaging 1.00
R0615:Wnt3 UTSW 11 103,703,207 (GRCm39) missense possibly damaging 0.68
R1438:Wnt3 UTSW 11 103,699,077 (GRCm39) missense probably damaging 1.00
R2058:Wnt3 UTSW 11 103,703,111 (GRCm39) missense probably damaging 0.97
R2127:Wnt3 UTSW 11 103,703,474 (GRCm39) missense possibly damaging 0.82
R2128:Wnt3 UTSW 11 103,703,474 (GRCm39) missense possibly damaging 0.82
R4470:Wnt3 UTSW 11 103,703,450 (GRCm39) missense probably damaging 0.99
R4878:Wnt3 UTSW 11 103,699,031 (GRCm39) missense possibly damaging 0.88
R5616:Wnt3 UTSW 11 103,703,596 (GRCm39) critical splice donor site probably null
R6052:Wnt3 UTSW 11 103,699,000 (GRCm39) nonsense probably null
R6472:Wnt3 UTSW 11 103,699,100 (GRCm39) missense possibly damaging 0.89
R6687:Wnt3 UTSW 11 103,703,411 (GRCm39) missense probably damaging 1.00
R7652:Wnt3 UTSW 11 103,703,290 (GRCm39) missense possibly damaging 0.83
R7760:Wnt3 UTSW 11 103,702,266 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07