|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 3A|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0334 (G1)|
|Chromosomal Location||59248033-59290752 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59256318 bp|
|Amino Acid Change||Serine to Proline at position 181 (S181P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010044 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010044]|
|Predicted Effect||probably damaging
AA Change: S181P
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: S181P
|Meta Mutation Damage Score||0.112|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
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 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die at embryonic day 10.5-12.5 with failed development of caudal somites, notochord and structures rostral to hindlimbs. Homozygotes for a hypomorphic allele have vertebral defects and a short tail due to loss of caudal vertebrae. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wnt3a||
(F):5'- ACTTCCAGGAACCCTATGTCCACAG -3'
(R):5'- TAGCTTTCGCAGTGACACGCTC -3'
(F):5'- GAACCCTATGTCCACAGGTGAG -3'
(R):5'- AGTGACACGCTCCTGTGC -3'