Incidental Mutation 'R0063:Dazl'
ID 17238
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 038355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0063 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 50586422-50600627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152705859 bp (NCBIm37)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 212 (T212A)
Ref Sequence ENSEMBL: ENSMUSP00000128888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164120]
AlphaFold Q64368
Predicted Effect probably damaging
Transcript: ENSMUST00000164120
AA Change: T212A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: T212A

DomainStartEndE-ValueType
Pfam:Aurora-A_bind 1 68 5.2e-40 PFAM
coiled coil region 213 242 N/A INTRINSIC
Pfam:TPX2_importin 362 489 2.7e-35 PFAM
low complexity region 608 619 N/A INTRINSIC
Pfam:TPX2 661 717 7.5e-15 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 89.1%
  • 3x: 86.1%
  • 10x: 78.0%
  • 20x: 64.7%
Validation Efficiency 99% (86/87)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik C T 16: 4,678,912 (GRCm39) R245* probably null Het
4930563I02Rik T A 14: 60,333,477 (GRCm39) probably benign Het
Acss1 T C 2: 150,469,212 (GRCm39) T435A probably damaging Het
Aoc2 T A 11: 101,216,897 (GRCm39) S327T probably damaging Het
Arid5a T A 1: 36,357,645 (GRCm39) Y252N probably damaging Het
AU040320 T C 4: 126,733,465 (GRCm39) Y662H probably damaging Het
Bcam C T 7: 19,500,773 (GRCm39) V134I probably benign Het
Btbd16 A T 7: 130,424,896 (GRCm39) T426S probably benign Het
Cap2 T C 13: 46,791,508 (GRCm39) probably benign Het
Capn8 T A 1: 182,429,677 (GRCm39) D299E probably damaging Het
Cdipt G A 7: 126,578,772 (GRCm39) V160I probably benign Het
Cyb5r3 T C 15: 83,046,137 (GRCm39) T60A probably benign Het
Dgkb T G 12: 38,654,112 (GRCm39) S744A probably benign Het
Dock2 T A 11: 34,647,111 (GRCm39) probably null Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Elapor2 T C 5: 9,490,709 (GRCm39) probably benign Het
Emid1 A T 11: 5,139,704 (GRCm38) probably benign Het
Eml3 C A 19: 8,915,842 (GRCm39) A644D probably damaging Het
Foxp1 A G 6: 98,921,684 (GRCm39) probably benign Het
Ints8 T C 4: 11,252,857 (GRCm39) N75S probably damaging Het
Irs1 T A 1: 82,266,580 (GRCm39) E545D probably damaging Het
Lama3 T C 18: 12,661,762 (GRCm39) probably benign Het
Nat8f2 A T 6: 85,844,815 (GRCm39) S182R possibly damaging Het
Nrcam G T 12: 44,596,811 (GRCm39) V343F possibly damaging Het
Pdk2 T C 11: 94,923,306 (GRCm39) H106R probably benign Het
Pkhd1 G A 1: 20,282,174 (GRCm39) T2889I probably benign Het
Pkhd1l1 T A 15: 44,392,633 (GRCm39) L1656H probably damaging Het
Plxna2 A T 1: 194,327,247 (GRCm39) T394S probably benign Het
Pnpla8 T A 12: 44,329,615 (GRCm39) C56S probably damaging Het
Prdm8 G T 5: 98,332,453 (GRCm39) R118L probably damaging Het
Prkce T C 17: 86,789,539 (GRCm39) probably benign Het
Ptprk T A 10: 28,139,763 (GRCm39) Y163N probably damaging Het
Rbbp8 T A 18: 11,867,614 (GRCm39) probably benign Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Slc2a2 T C 3: 28,771,589 (GRCm39) M173T probably damaging Het
Slc2a8 T A 2: 32,870,011 (GRCm39) probably null Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tmem89 A G 9: 108,743,880 (GRCm39) N60S probably benign Het
Trio G T 15: 27,881,523 (GRCm39) probably benign Het
Tulp2 T C 7: 45,170,284 (GRCm39) probably benign Het
Uggt2 A G 14: 119,244,542 (GRCm39) probably benign Het
Vwa8 A G 14: 79,401,656 (GRCm39) probably benign Het
Xirp2 A G 2: 67,339,427 (GRCm39) D556G probably damaging Het
Xrn1 T C 9: 95,851,588 (GRCm39) L202P probably damaging Het
Zfp354a A T 11: 50,960,398 (GRCm39) H203L probably damaging Het
Other mutations in Dazl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Dazl APN 17 50,600,426 (GRCm39) splice site probably benign
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 2013-01-20