|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0328 (G1)|
|Chromosomal Location||137277489-137299726 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 137295443 bp|
|Amino Acid Change||Threonine to Alanine at position 106 (T106A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036580 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045747]|
|Predicted Effect||probably damaging
AA Change: T106A
PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: T106A
|Meta Mutation Damage Score||0.9262|
|Coding Region Coverage||
|Validation Efficiency||96% (46/48)|
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, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit impaired development of the kidney, pituitary gland, and female reproductive system. Mutants die within 24 hours of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wnt4||
(F):5'- AGAACCAGGACCTACTGTGTGCTC -3'
(R):5'- TGCCAGCCTCGTTGTTGTGAAG -3'
(F):5'- CTACTGTGTGCTCGGCAGG -3'
(R):5'- GAGCATCCTGACCACTGGAAG -3'