Incidental Mutation 'R5310:Dazl'
ID 404817
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 042893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5310 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50588311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 288 (S288I)
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: S288I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592
AA Change: S288I

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
Meta Mutation Damage Score 0.1282 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,931,839 (GRCm39) I31L possibly damaging Het
Abca17 T C 17: 24,500,204 (GRCm39) K1329R probably benign Het
Acap2 A G 16: 30,952,427 (GRCm39) Y197H probably benign Het
Adgrv1 A G 13: 81,624,809 (GRCm39) V3720A possibly damaging Het
Alms1 T A 6: 85,592,350 (GRCm39) S870T possibly damaging Het
Anapc4 A G 5: 53,016,501 (GRCm39) E493G probably benign Het
Ap2a1 A G 7: 44,555,489 (GRCm39) probably null Het
Arhgef38 A G 3: 132,822,227 (GRCm39) L179P probably damaging Het
Bicral T C 17: 47,124,909 (GRCm39) D630G possibly damaging Het
Ccdc97 A T 7: 25,415,201 (GRCm39) L154Q probably damaging Het
Cd40 T C 2: 164,905,483 (GRCm39) probably null Het
Celsr1 T A 15: 85,810,423 (GRCm39) N2155I possibly damaging Het
Cemip A T 7: 83,641,241 (GRCm39) L261H probably damaging Het
Cep57 G A 9: 13,730,164 (GRCm39) H98Y probably damaging Het
Chrna7 A T 7: 62,755,805 (GRCm39) L247Q probably damaging Het
Cyp2c40 T A 19: 39,766,474 (GRCm39) M374L probably damaging Het
Cyp4f13 T C 17: 33,144,795 (GRCm39) D372G probably damaging Het
Dnah5 T C 15: 28,311,474 (GRCm39) F1818L probably damaging Het
Echdc1 T C 10: 29,210,204 (GRCm39) V143A possibly damaging Het
Eif4enif1 T A 11: 3,192,687 (GRCm39) H838Q probably damaging Het
Erich3 A T 3: 154,469,217 (GRCm39) D1223V probably damaging Het
Fbxl2 A G 9: 113,815,576 (GRCm39) I229T possibly damaging Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Ggnbp2 A G 11: 84,760,794 (GRCm39) M1T probably null Het
Glb1l2 C T 9: 26,708,162 (GRCm39) probably benign Het
Gnl2 A G 4: 124,946,633 (GRCm39) K618R probably benign Het
Greb1 A T 12: 16,766,760 (GRCm39) I346K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gtse1 A G 15: 85,757,993 (GRCm39) Q533R probably benign Het
Hemgn A G 4: 46,403,927 (GRCm39) S23P possibly damaging Het
Htr6 G T 4: 138,788,977 (GRCm39) H359Q probably damaging Het
Ifit1 T C 19: 34,626,204 (GRCm39) F447L probably benign Het
Kansl1 T C 11: 104,315,684 (GRCm39) Y118C possibly damaging Het
Khk G A 5: 31,084,373 (GRCm39) V118M probably benign Het
Klra17 T A 6: 129,845,671 (GRCm39) K181M probably damaging Het
Lbh T C 17: 73,228,287 (GRCm39) probably null Het
Lmo2 T C 2: 103,806,445 (GRCm39) I108T probably damaging Het
Maco1 T C 4: 134,564,330 (GRCm39) probably benign Het
Mgat5 T A 1: 127,315,251 (GRCm39) probably null Het
Mink1 T C 11: 70,498,169 (GRCm39) V525A probably benign Het
Myo10 C A 15: 25,778,164 (GRCm39) probably null Het
Nlrp2 T C 7: 5,328,007 (GRCm39) N682S probably benign Het
Nr2e3 G A 9: 59,856,617 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,171 (GRCm39) C129R probably damaging Het
Or6b2b T C 1: 92,418,758 (GRCm39) T240A probably damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pfas G A 11: 68,878,847 (GRCm39) S1319F probably damaging Het
Phf3 T C 1: 30,842,887 (GRCm39) K2024R probably damaging Het
Pld4 G A 12: 112,735,046 (GRCm39) C501Y probably damaging Het
Psg16 C T 7: 16,824,560 (GRCm39) R115W probably damaging Het
Rab3gap1 G A 1: 127,870,110 (GRCm39) probably null Het
Rimkla C A 4: 119,335,049 (GRCm39) K111N probably damaging Het
Rrm2b T C 15: 37,927,571 (GRCm39) E113G probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Skint6 C A 4: 113,041,965 (GRCm39) E292* probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc13a1 A G 6: 24,134,373 (GRCm39) M170T probably benign Het
Slc15a5 T C 6: 138,050,034 (GRCm39) N127S probably benign Het
Slc39a10 G A 1: 46,875,285 (GRCm39) H6Y probably damaging Het
Spata31e2 A C 1: 26,724,169 (GRCm39) V337G probably benign Het
Sugct A T 13: 17,427,145 (GRCm39) C338* probably null Het
Tbk1 A T 10: 121,391,956 (GRCm39) M486K probably benign Het
Terf1 A T 1: 15,875,909 (GRCm39) E3V probably damaging Het
Thoc5 T A 11: 4,860,648 (GRCm39) Y246N probably damaging Het
Tmem167b G A 3: 108,469,415 (GRCm39) probably benign Het
Tmtc1 T A 6: 148,256,910 (GRCm39) probably benign Het
Zfp322a A T 13: 23,541,532 (GRCm39) M70K possibly damaging Het
Zfp979 A T 4: 147,698,375 (GRCm39) H111Q possibly 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
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
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'- GCCAATTTCAACTAAAAGTCCTTACGG -3'
(R):5'- AGAGGGATTCCTTATTAGGTTCATC -3'

Sequencing Primer
(F):5'- TCAACTAAAAGTCCTTACGGTAAATC -3'
(R):5'- CATTTAATAGACCCTAACCAGTTGG -3'
Posted On 2016-07-22