Incidental Mutation 'H2330:Azin1'
ID 516
Institutional Source Beutler Lab
Gene Symbol Azin1
Ensembl Gene ENSMUSG00000037458
Gene Name antizyme inhibitor 1
Synonyms Oazin, 1700085L02Rik, ODC antizyme inhibitor, Oazi
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # H2330 of strain 521
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 38487671-38519510 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38497520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 191 (I191T)
Ref Sequence ENSEMBL: ENSMUSP00000105958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065308] [ENSMUST00000110329] [ENSMUST00000127848] [ENSMUST00000129589] [ENSMUST00000151319]
AlphaFold O35484
Predicted Effect probably damaging
Transcript: ENSMUST00000065308
AA Change: I191T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: I191T

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 279 5.2e-66 PFAM
Pfam:Orn_DAP_Arg_deC 282 406 1.4e-25 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000110328
AA Change: I121T
SMART Domains Protein: ENSMUSP00000105957
Gene: ENSMUSG00000037458
AA Change: I121T

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 279 9.4e-67 PFAM
Pfam:Orn_DAP_Arg_deC 282 357 7.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110329
AA Change: I191T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: I191T

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 279 5.4e-69 PFAM
Pfam:Orn_DAP_Arg_deC 283 405 3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127848
Predicted Effect probably benign
Transcript: ENSMUST00000129589
SMART Domains Protein: ENSMUSP00000117988
Gene: ENSMUSG00000037458

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 154 1.8e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149293
Predicted Effect probably benign
Transcript: ENSMUST00000151319
SMART Domains Protein: ENSMUSP00000119201
Gene: ENSMUSG00000037458

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 149 9.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226152
Meta Mutation Damage Score 0.5939 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 79.5%
Het Detection Efficiency 59.4%
Validation Efficiency 87% (227/262)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous disruption of this gene results in neonatal lethality, a slight reduction in birth weight, and abnormal liver morphology. [provided by MGI curators]
Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)
Other mutations in this stock
Total: 3 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Gabrb2 G A 11: 42,312,258 (GRCm39) probably benign Homo
Or8d6 T C 9: 39,854,216 (GRCm39) F220S probably damaging Het
Psme4 A G 11: 30,801,210 (GRCm39) E1455G probably benign Homo
Other mutations in Azin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02174:Azin1 APN 15 38,493,730 (GRCm39) missense probably benign
IGL02406:Azin1 APN 15 38,491,809 (GRCm39) missense probably benign 0.00
R0562:Azin1 UTSW 15 38,493,825 (GRCm39) missense probably benign 0.00
R3416:Azin1 UTSW 15 38,493,790 (GRCm39) missense possibly damaging 0.89
R3434:Azin1 UTSW 15 38,493,820 (GRCm39) missense probably benign 0.00
R3978:Azin1 UTSW 15 38,498,957 (GRCm39) missense probably damaging 0.99
R4535:Azin1 UTSW 15 38,493,849 (GRCm39) missense probably benign 0.11
R4720:Azin1 UTSW 15 38,493,744 (GRCm39) missense probably benign 0.43
R5266:Azin1 UTSW 15 38,491,795 (GRCm39) missense probably benign
R6416:Azin1 UTSW 15 38,492,587 (GRCm39) missense possibly damaging 0.71
R7242:Azin1 UTSW 15 38,501,749 (GRCm39) start codon destroyed probably null 1.00
R7283:Azin1 UTSW 15 38,501,652 (GRCm39) missense probably damaging 0.98
R7577:Azin1 UTSW 15 38,501,665 (GRCm39) missense probably benign 0.01
R7604:Azin1 UTSW 15 38,491,878 (GRCm39) missense probably damaging 1.00
R8221:Azin1 UTSW 15 38,492,572 (GRCm39) missense probably damaging 1.00
R8683:Azin1 UTSW 15 38,493,775 (GRCm39) missense probably damaging 1.00
R9229:Azin1 UTSW 15 38,490,646 (GRCm39) missense probably benign
R9420:Azin1 UTSW 15 38,493,871 (GRCm39) missense possibly damaging 0.46
Nature of Mutation

Multiple transcripts of the Azin1 gene are displayed on Ensembl and Vega.
Protein Function and Prediction

The Azin1 gene encodes a 448 amino acid protein that inhibits antizyme-dependent ornithine decarboxylase degradation by binding to antizyme with greater affinity. In this way, the protein regulates cellular polyamine homeostasis (Uniprot O35484). Homozygous knockout mice died at postnatal day 0 with slightly reduced body mass and abnormal livers.

The I191T change is predicted to be possibly damaging by the PolyPhen program.
Posted On 2010-11-02