|Institutional Source||Beutler Lab|
|Gene Name||WNT1 inducible signaling pathway protein 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1350 (G1)|
|Chromosomal Location||39150970-39163794 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 39158306 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 100 (C100Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076003 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076713]|
|Predicted Effect||probably damaging
AA Change: C100Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C100Y
|Meta Mutation Damage Score||0.9125|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wisp3||
(F):5'- AAAACTGAGCCATCCCACAGGTATG -3'
(R):5'- TCACCAAACGAAGCTCTGCTGC -3'
(F):5'- ATCCCACAGGTATGCAAAATTG -3'
(R):5'- CAGCATTGGAGGTGTATCAGC -3'