|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 #||R5310 (G1)|
|Chromosomal Location||50279394-50293599 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 50281283 bp|
|Amino Acid Change||Serine to Isoleucine at position 288 (S288I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010736 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010736]|
|Predicted Effect||probably damaging
AA Change: S288I
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S288I
|Meta Mutation Damage Score||0.176|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
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'- GCCAATTTCAACTAAAAGTCCTTACGG -3'
(R):5'- AGAGGGATTCCTTATTAGGTTCATC -3'
(F):5'- TCAACTAAAAGTCCTTACGGTAAATC -3'
(R):5'- CATTTAATAGACCCTAACCAGTTGG -3'