|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2127 (G1)|
|Chromosomal Location||103774150-103817957 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 103812648 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 319 (H319R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000127 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000127]|
AA Change: H319R
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: H319R
|Meta Mutation Damage Score||0.6710|
|Coding Region Coverage||
|Validation Efficiency||98% (93/95)|
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||
|Other mutations in Wnt3||
(F):5'- GTGGAGAAACACCGTGAGTC -3'
(R):5'- ATCAGAAGAGCAGGCCTAGC -3'
(F):5'- GAAACACCGTGAGTCCCGAG -3'
(R):5'- AGCAGGCCTAGCGGATG -3'