Incidental Mutation 'R8393:Dazl'
ID 647504
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 067811-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50588294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 294 (S294T)
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
AA Change: S294T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592
AA Change: S294T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 T C 4: 106,617,390 (GRCm39) T239A probably benign Het
Adgrg7 A G 16: 56,582,477 (GRCm39) S258P probably damaging Het
Capn10 T A 1: 92,871,130 (GRCm39) D313E probably benign Het
Caprin2 A G 6: 148,770,650 (GRCm39) V448A probably benign Het
Casr A G 16: 36,330,566 (GRCm39) V256A probably benign Het
Cped1 A G 6: 22,222,465 (GRCm39) T742A possibly damaging Het
Cyp2c39 G T 19: 39,525,255 (GRCm39) R186L possibly damaging Het
Dnah17 C A 11: 117,947,855 (GRCm39) V2982F probably damaging Het
Enpp3 C A 10: 24,702,139 (GRCm39) C71F probably damaging Het
Fam234a A G 17: 26,437,149 (GRCm39) C177R probably damaging Het
Fbxl5 A C 5: 43,925,433 (GRCm39) Y186D possibly damaging Het
Fbxo43 T C 15: 36,162,494 (GRCm39) T238A probably benign Het
Fcgbp A G 7: 27,806,815 (GRCm39) H2261R probably benign Het
Gm20939 C T 17: 95,183,207 (GRCm39) H148Y probably damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Gpr45 C A 1: 43,071,395 (GRCm39) H13N probably benign Het
Irf4 A G 13: 30,947,610 (GRCm39) D438G probably damaging Het
Kcnk1 T C 8: 126,751,964 (GRCm39) V190A probably benign Het
Klre1 A T 6: 129,557,025 (GRCm39) K42N probably damaging Het
Lmbrd2 C T 15: 9,178,437 (GRCm39) T499M probably damaging Het
Lrrc14 G T 15: 76,598,398 (GRCm39) G345C probably damaging Het
Matn2 A G 15: 34,355,748 (GRCm39) H251R possibly damaging Het
Mpnd A G 17: 56,323,568 (GRCm39) E477G probably damaging Het
Muc17 C T 5: 137,171,179 (GRCm39) V151I Het
Nckap5l A C 15: 99,325,050 (GRCm39) C484W probably damaging Het
Npas1 C T 7: 16,195,266 (GRCm39) S354N probably damaging Het
Or1e25 T C 11: 73,494,261 (GRCm39) L285P probably damaging Het
Or4k2 C A 14: 50,424,342 (GRCm39) E112* probably null Het
Or52ab2 A T 7: 102,969,668 (GRCm39) I17F Het
Or52e3 T C 7: 102,869,399 (GRCm39) V158A probably benign Het
Or5w11 T C 2: 87,459,197 (GRCm39) L14P probably damaging Het
Or6c65 G T 10: 129,604,304 (GRCm39) *313L probably null Het
Or8d4 T A 9: 40,038,360 (GRCm39) H299L probably benign Het
Pabpc6 G A 17: 9,887,435 (GRCm39) P372L probably damaging Het
Pkd1 A G 17: 24,791,621 (GRCm39) N1103D probably damaging Het
Prelid2 C T 18: 42,014,313 (GRCm39) C171Y probably benign Het
R3hcc1 T C 14: 69,942,890 (GRCm39) Q229R probably benign Het
Rapgef6 T C 11: 54,578,487 (GRCm39) V1003A probably benign Het
Rbp3 T A 14: 33,678,156 (GRCm39) H701Q possibly damaging Het
Resf1 A T 6: 149,229,998 (GRCm39) T1015S possibly damaging Het
Rmdn2 T C 17: 79,975,459 (GRCm39) probably null Het
Robo2 A T 16: 73,775,382 (GRCm39) W451R probably damaging Het
Sacs T A 14: 61,410,655 (GRCm39) M1K probably null Het
Senp2 G A 16: 21,850,864 (GRCm39) G294R probably damaging Het
Setdb2 T A 14: 59,650,180 (GRCm39) H478L probably benign Het
Slc12a4 G T 8: 106,678,451 (GRCm39) A295E probably damaging Het
Slc12a9 C T 5: 137,319,698 (GRCm39) V606M probably damaging Het
Slc25a30 T C 14: 76,012,451 (GRCm39) K66E probably benign Het
Slc39a6 T C 18: 24,732,331 (GRCm39) E319G possibly damaging Het
Sorbs3 T A 14: 70,422,360 (GRCm39) T617S probably benign Het
Speer4a3 A T 5: 26,158,076 (GRCm39) V92E probably damaging Het
Spef2 T G 15: 9,676,615 (GRCm39) D652A probably benign Het
Stag3 T C 5: 138,295,017 (GRCm39) M347T probably damaging Het
Tecpr2 A T 12: 110,911,191 (GRCm39) D1076V probably damaging Het
Tor2a G A 2: 32,651,648 (GRCm39) V288I probably benign Het
Usp30 C T 5: 114,259,826 (GRCm39) R511* probably null Het
Vezt T C 10: 93,832,704 (GRCm39) T236A probably damaging Het
Zmynd12 A T 4: 119,305,352 (GRCm39) D264V 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
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
R9142:Dazl UTSW 17 50,590,178 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCCAATTTCAACTAAAAGTCCTTACGG -3'
(R):5'- GCAGAGTTCTACAAGATTATCTCCTC -3'

Sequencing Primer
(F):5'- TCAACTAAAAGTCCTTACGGTAAATC -3'
(R):5'- TTCTACAAGATTATCTCCTCTTCCTC -3'
Posted On 2020-09-02