Incidental Mutation 'R7523:Dazl'
ID 582805
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 045595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7523 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50594569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 162 (T162I)
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: T162I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592
AA Change: T162I

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,492,824 (GRCm39) H40Q unknown Het
4932414N04Rik A T 2: 68,569,673 (GRCm39) Q463L probably benign Het
Ano4 C A 10: 88,807,257 (GRCm39) E775* probably null Het
Atp12a T C 14: 56,603,425 (GRCm39) V10A possibly damaging Het
Camkmt A G 17: 85,699,056 (GRCm39) I144M probably benign Het
Ciao2b G A 8: 105,368,404 (GRCm39) probably benign Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dnah10 A G 5: 124,824,803 (GRCm39) K653R probably damaging Het
Exosc10 A T 4: 148,648,299 (GRCm39) probably null Het
Fbn2 T C 18: 58,199,152 (GRCm39) D1372G probably benign Het
Fxr1 T C 3: 34,093,692 (GRCm39) V23A probably benign Het
Gmps T C 3: 63,919,087 (GRCm39) I557T possibly damaging Het
Ifnab A T 4: 88,609,029 (GRCm39) Y146N probably damaging Het
Krt78 T C 15: 101,855,036 (GRCm39) Y925C not run Het
Lrp1b C T 2: 41,401,473 (GRCm39) V394M Het
Ltbp2 T C 12: 84,837,808 (GRCm39) T1211A probably benign Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mdn1 A T 4: 32,667,270 (GRCm39) probably null Het
Myo15b A T 11: 115,781,684 (GRCm39) I2798F unknown Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Nectin2 A G 7: 19,464,037 (GRCm39) V314A probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Or2c1 T C 16: 3,657,563 (GRCm39) V242A probably benign Het
Or8j3 T C 2: 86,028,389 (GRCm39) K236E probably damaging Het
Pdcd4 G T 19: 53,899,379 (GRCm39) V123F probably damaging Het
Pik3c3 C T 18: 30,426,708 (GRCm39) R275W probably damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Ptbp3 A G 4: 59,546,159 (GRCm39) V11A probably benign Het
Ptpn22 A G 3: 103,819,331 (GRCm39) N795S probably damaging Het
Ptprg T G 14: 12,237,130 (GRCm38) I1383S probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Sf3b3 A G 8: 111,540,352 (GRCm39) I1023T probably benign Het
Slc44a2 A G 9: 21,257,288 (GRCm39) E411G probably null Het
Stard9 T C 2: 120,530,078 (GRCm39) Y2112H probably benign Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tenm2 A T 11: 35,969,408 (GRCm39) probably null Het
Tle1 A T 4: 72,063,655 (GRCm39) S199R possibly damaging Het
Tubgcp2 A G 7: 139,586,783 (GRCm39) I399T probably benign Het
Ubr5 T C 15: 38,004,299 (GRCm39) N1344S Het
Vmn2r114 A G 17: 23,529,611 (GRCm39) F164L probably benign Het
Vps13a G T 19: 16,681,153 (GRCm39) T1041K probably benign Het
Zbtb20 T C 16: 43,430,875 (GRCm39) V389A probably benign Het
Zfp811 A T 17: 33,016,726 (GRCm39) I438N probably benign Het
Zfp90 A G 8: 107,150,545 (GRCm39) D86G probably benign 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
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'- CTACCAAGGTTCTAGGATAATGGC -3'
(R):5'- GCCTAGGTTTTCAGAGAACGC -3'

Sequencing Primer
(F):5'- GATTTCAGCTTAGCATAAACAGCGC -3'
(R):5'- GGTTTTCAGAGAACGCAATGTAAC -3'
Posted On 2019-10-17