Incidental Mutation 'IGL01645:Wnt3'
ID 102622
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 # IGL01645
Quality Score
Status
Chromosome 11
Chromosomal Location 103664976-103708783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103703204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 229 (A229V)
Ref Sequence ENSEMBL: ENSMUSP00000000127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000127]
AlphaFold P17553
Predicted Effect probably benign
Transcript: ENSMUST00000000127
AA Change: A229V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000127
Gene: ENSMUSG00000000125
AA Change: A229V

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Other mutations in Wnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Wnt3 APN 11 103,699,140 (GRCm39) missense possibly damaging 0.81
IGL01989:Wnt3 APN 11 103,703,233 (GRCm39) missense probably benign 0.44
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 2014-01-21