Incidental Mutation 'H9600:Asz1'
ID 613
Institutional Source Beutler Lab
Gene Symbol Asz1
Ensembl Gene ENSMUSG00000010796
Gene Name ankyrin repeat, SAM and basic leucine zipper domain containing 1
Synonyms ORF3, Gasz, 4933400N19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # H9600 (G3) of strain 624
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 18050963-18109060 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 18055424 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010940]
AlphaFold Q8VD46
Predicted Effect probably benign
Transcript: ENSMUST00000010940
SMART Domains Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
ANK 45 74 4.86e1 SMART
ANK 78 107 4.03e-5 SMART
ANK 110 144 2.3e0 SMART
ANK 148 177 3.46e-4 SMART
ANK 181 210 1.05e-3 SMART
SAM 271 336 5.64e-3 SMART
Blast:ANK 385 414 5e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136626
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 75.4%
Het Detection Efficiency 55.8%
Validation Efficiency 100% (2/2)
MGI Phenotype PHENOTYPE: Homozygous null male mice are sterile resulting from a block in spermatid development [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)
Other mutations in this stock
Total: 1 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Tbc1d9 T A 8: 83,937,090 (GRCm39) S57R probably damaging Homo
Other mutations in Asz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Asz1 APN 6 18,055,541 (GRCm39) critical splice acceptor site probably null
IGL02691:Asz1 APN 6 18,076,556 (GRCm39) missense probably damaging 1.00
IGL02958:Asz1 APN 6 18,073,813 (GRCm39) missense possibly damaging 0.92
IGL03116:Asz1 APN 6 18,076,642 (GRCm39) splice site probably benign
R0331:Asz1 UTSW 6 18,103,618 (GRCm39) splice site probably benign
R3441:Asz1 UTSW 6 18,108,405 (GRCm39) missense probably benign 0.06
R3896:Asz1 UTSW 6 18,075,766 (GRCm39) missense probably benign 0.17
R4596:Asz1 UTSW 6 18,103,592 (GRCm39) missense possibly damaging 0.82
R4683:Asz1 UTSW 6 18,055,541 (GRCm39) critical splice acceptor site probably benign
R5304:Asz1 UTSW 6 18,076,619 (GRCm39) missense probably benign 0.11
R5869:Asz1 UTSW 6 18,074,939 (GRCm39) unclassified probably benign
R6550:Asz1 UTSW 6 18,051,380 (GRCm39) missense probably damaging 0.96
R6672:Asz1 UTSW 6 18,075,817 (GRCm39) missense possibly damaging 0.92
R6850:Asz1 UTSW 6 18,108,942 (GRCm39) missense probably benign 0.00
R6894:Asz1 UTSW 6 18,055,520 (GRCm39) missense probably damaging 1.00
R7092:Asz1 UTSW 6 18,071,818 (GRCm39) splice site probably null
R7388:Asz1 UTSW 6 18,074,900 (GRCm39) missense probably benign 0.04
R7608:Asz1 UTSW 6 18,077,252 (GRCm39) missense probably damaging 1.00
R7885:Asz1 UTSW 6 18,104,876 (GRCm39) missense probably damaging 1.00
R7994:Asz1 UTSW 6 18,054,640 (GRCm39) missense probably benign 0.04
R8913:Asz1 UTSW 6 18,054,570 (GRCm39) missense probably benign 0.00
R8985:Asz1 UTSW 6 18,051,336 (GRCm39) missense probably benign 0.00
R9123:Asz1 UTSW 6 18,054,561 (GRCm39) missense probably benign 0.00
R9125:Asz1 UTSW 6 18,054,561 (GRCm39) missense probably benign 0.00
R9287:Asz1 UTSW 6 18,051,290 (GRCm39) missense possibly damaging 0.91
R9288:Asz1 UTSW 6 18,051,368 (GRCm39) missense possibly damaging 0.54
R9393:Asz1 UTSW 6 18,051,330 (GRCm39) missense probably benign 0.01
X0054:Asz1 UTSW 6 18,055,480 (GRCm39) missense probably benign 0.00
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at base pair 18005425 in the Genbank genomic region NC_000072 for the Asz1 gene on chromosome 6 (GTATTTAAGT ->GTATTTAAGA). Multiple transcripts of the Asz1 gene are displayed on Ensembl and Vega. The mutation is located within intron 11 from the ATG exon, ten nucleotides from the previous exon. The Asz1 gene contains 13 total exons using Genbank record NM_023729.3. The mutation has been confirmed by DNA sequencing using the Sanger method.
Protein Function and Prediction

The Asz1 gene encodes a 475 amino acid  protein that plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. The protein acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. ASZ1 is a component of the meiotic nuage or P granule. The protein contains six ankyrin (ANK) repeats and one SAM (sterile alpha motif) domain at residues 272-334 (Uniprot Q8VD46). Homozygous null male mice are sterile resulting from a block in spermatid development.

Posted On 2011-03-11