|Institutional Source||Beutler Lab|
|Gene Name||deleted in azoospermia-like|
|Synonyms||Daz-like, Tpx2, Dazla, Tpx-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5389 (G1)|
|Chromosomal Location||50279394-50293599 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 50288690 bp|
|Amino Acid Change||Isoleucine to Valine at position 56 (I56V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010736 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010736]|
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH RNA, UUGUUCUU [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH MVH RNA, UGUUC [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH SYCP3 RNA, UUGUUU [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: I56V
PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I56V
|Meta Mutation Damage Score||0.2380|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: This gene encodes a member of the depleted in azoospermia-like (DAZL) protein family. Members of this family contain an RNA recognition motif, interact with poly A binding proteins, and may be involved in the initiation of translation. The encoded protein is expressed in the cytoplasm of pluripotent stem cells, and in both male and female germ cells, where it is essential for gametogenesis. Disruption of this gene is associated with infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit sterility with a complete absence of mature germ cells. In mutants, few spermatogonia enter meiosis, and those that do fail to proceed beyond pachytene. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dazl||
(F):5'- GGCAACAATTTCAGTAGTTTGC -3'
(R):5'- ATTGGGAGCTGATGTGTAGACC -3'
(F):5'- CAACAATTTCAGTAGTTTGCATGCTC -3'
(R):5'- GACCTAAAAGGATTTTCTGCTCC -3'