Incidental Mutation 'IGL01989:Wnt3'
ID182823
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 #IGL01989
Quality Score
Status
Chromosome11
Chromosomal Location103774150-103817957 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103812407 bp
ZygosityHeterozygous
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]
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: 28,986,270 V8D probably damaging Het
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Ces2c C A 8: 104,849,743 N129K probably damaging Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Serpina3n T A 12: 104,413,491 M381K probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Stxbp1 T C 2: 32,812,064 D207G probably benign Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem247 A G 17: 86,918,291 E53G probably damaging Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A probably damaging 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
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 On2014-05-07