Incidental Mutation 'R3961:Dazl'
ID 312099
Institutional Source Beutler Lab
Gene Symbol Dazl
Ensembl Gene ENSMUSG00000010592
Gene Name deleted in azoospermia-like
Synonyms Tpx2, Daz-like, Tpx-2, Dazla
MMRRC Submission 040836-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3961 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50595161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
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 damaging
Transcript: ENSMUST00000010736
AA Change: V91A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592
AA Change: V91A

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Bicral T C 17: 47,135,751 (GRCm39) I486M probably damaging Het
Btbd1 C A 7: 81,468,083 (GRCm39) E146* probably null Het
Cdcp1 T C 9: 123,011,446 (GRCm39) T344A possibly damaging Het
Cenpm A T 15: 82,118,574 (GRCm39) L180Q possibly damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Dsc2 C T 18: 20,184,284 (GRCm39) V35I probably damaging Het
Fras1 T C 5: 96,825,244 (GRCm39) probably null Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Minar1 G A 9: 89,483,963 (GRCm39) T478I probably damaging Het
Mme T A 3: 63,252,613 (GRCm39) M419K probably damaging Het
Ncan G A 8: 70,562,950 (GRCm39) T436M probably benign Het
Nphp3 G T 9: 103,880,241 (GRCm39) E88* probably null Het
Or5ak23 T C 2: 85,245,216 (GRCm39) I2M possibly damaging Het
Pdcl T C 2: 37,242,199 (GRCm39) M184V probably benign Het
Polr3b T C 10: 84,520,166 (GRCm39) M694T possibly damaging Het
Pramel12 T A 4: 143,145,888 (GRCm39) N452K probably benign Het
Prkdc T G 16: 15,647,475 (GRCm39) probably null Het
Prss35 A G 9: 86,637,802 (GRCm39) M191V probably benign Het
Rtn3 T C 19: 7,435,510 (GRCm39) S142G probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Taf7 A G 18: 37,776,174 (GRCm39) V131A probably benign Het
Tesk1 A G 4: 43,445,133 (GRCm39) probably null Het
Tmem131 C T 1: 36,858,031 (GRCm39) D741N probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpte A G 8: 22,849,431 (GRCm39) S553G probably damaging Het
Trpv3 A T 11: 73,178,246 (GRCm39) K438* probably null Het
Vmn2r107 G A 17: 20,595,717 (GRCm39) G757R probably damaging Het
Other mutations in Dazl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Dazl APN 17 50,600,426 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GTGCTCAGCCTTACTTTAACCAAAG -3'
(R):5'- CTGACATTACTAAGAAAACAGCAGTGG -3'

Sequencing Primer
(F):5'- TCTGATAAAGCTAGAGGCCTCC -3'
(R):5'- CAGCAGTGGTATTATAGAGGATCTG -3'
Posted On 2015-04-29