Incidental Mutation 'IGL02410:Dazl'
ID 292278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dazl
Ensembl Gene ENSMUSG00000010592
Gene Name deleted in azoospermia-like
Synonyms Tpx2, Daz-like, Tpx-2, Dazla
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02410
Quality Score
Status
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 50600426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010736]
AlphaFold Q64368
PDB Structure 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
Transcript: ENSMUST00000010736
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
RRM 41 111 2.16e-19 SMART
low complexity region 125 146 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,337,977 (GRCm39) C197Y probably damaging Het
Ano2 A G 6: 125,792,496 (GRCm39) probably null Het
Aqr A G 2: 113,967,398 (GRCm39) V539A possibly damaging Het
Bnip3 C A 7: 138,500,528 (GRCm39) G21C probably damaging Het
Cul1 T A 6: 47,461,948 (GRCm39) M37K probably damaging Het
Dsg2 A G 18: 20,735,189 (GRCm39) T1056A probably benign Het
Ewsr1 A G 11: 5,043,863 (GRCm39) probably benign Het
Fam167b G A 4: 129,472,011 (GRCm39) A53V probably benign Het
Fat3 T C 9: 15,909,141 (GRCm39) Y2287C probably damaging Het
H2-M10.3 A T 17: 36,677,428 (GRCm39) H283Q probably damaging Het
Hectd2 C T 19: 36,572,613 (GRCm39) R39* probably null Het
Hnrnph3 A G 10: 62,851,503 (GRCm39) probably benign Het
Hps4 T C 5: 112,518,093 (GRCm39) V362A probably benign Het
Igkv9-120 A C 6: 68,027,027 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lamc3 A G 2: 31,795,977 (GRCm39) T417A probably damaging Het
Loxhd1 T C 18: 77,490,648 (GRCm39) V1307A probably benign Het
Mpdz T C 4: 81,215,730 (GRCm39) E1511G probably benign Het
Nprl3 A T 11: 32,217,539 (GRCm39) M1K probably null Het
Or9i2 A G 19: 13,816,495 (GRCm39) I14T probably benign Het
Ppp1r15a A G 7: 45,173,479 (GRCm39) V443A probably damaging Het
Psmd1 T G 1: 86,005,159 (GRCm39) L198V probably damaging Het
Rapgef4 A T 2: 72,056,938 (GRCm39) I566F possibly damaging Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Siah2 T C 3: 58,583,468 (GRCm39) R273G probably damaging Het
Siglecg C T 7: 43,058,253 (GRCm39) P47S probably damaging Het
Sox6 A G 7: 115,085,979 (GRCm39) S621P probably damaging Het
Spata31e5 A G 1: 28,817,712 (GRCm39) S107P probably benign Het
Ttn C A 2: 76,555,278 (GRCm39) A30576S probably benign Het
Ttyh1 A G 7: 4,136,898 (GRCm39) probably benign Het
Ush2a C T 1: 188,648,194 (GRCm39) R4600C probably damaging Het
Usp36 C T 11: 118,167,011 (GRCm39) V289M probably damaging Het
Other mutations in Dazl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0063:Dazl UTSW 17 152,705,859 (NCBIm37) missense probably damaging 1.00
R3801:Dazl UTSW 17 50,588,309 (GRCm39) missense probably benign 0.44
R3961:Dazl UTSW 17 50,595,161 (GRCm39) missense probably damaging 0.99
R4646:Dazl UTSW 17 50,595,183 (GRCm39) missense probably damaging 1.00
R5310:Dazl UTSW 17 50,588,311 (GRCm39) missense probably damaging 1.00
R5389:Dazl UTSW 17 50,595,718 (GRCm39) missense probably benign 0.25
R5933:Dazl UTSW 17 50,594,781 (GRCm39) critical splice donor site probably null
R6173:Dazl UTSW 17 50,594,599 (GRCm39) missense probably benign 0.05
R7057:Dazl UTSW 17 50,600,434 (GRCm39) start codon destroyed probably null
R7523:Dazl UTSW 17 50,594,569 (GRCm39) missense probably damaging 0.97
R8393:Dazl UTSW 17 50,588,294 (GRCm39) missense probably benign 0.02
R9142:Dazl UTSW 17 50,590,178 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16