|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 7A|
|Is this an essential gene?||Possibly essential (E-score: 0.623)|
|Stock #||R7480 (G1)|
|Chromosomal Location||91363981-91411363 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 91394413 bp|
|Amino Acid Change||Arginine to Leucine at position 189 (R189L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032180 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032180]|
|Predicted Effect||probably benign
AA Change: R189L
PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: R189L
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family, which consists of structurally related genes that 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 involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have skeletal abnormalities including absence of digits, especially of the forelimb, and sometimes absence of the ulna. Occasionally, there is an extra set of ribs. Both sexes are sterile due to abnormalities of the Mullerian duct. [provided by MGI curators]
|Allele List at MGI|
Wnt7apx-r, Wnt7apx, Wnt7atm1Amc (Allele List at MGI)
|Other mutations in this stock||
|Other mutations in Wnt7a||
(F):5'- TGCTGAGAAGCAACCATGTTGG -3'
(R):5'- GCCTTCACCTATGCGATTATCG -3'
(F):5'- GAAGCTAAGTGCAGCACT -3'
(R):5'- AACCTGAGCGACTGTGGCTG -3'