Incidental Mutation 'R4535:Azin1'
ID 333303
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 # R4535 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 38487671-38519510 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38493849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 258 (I258N)
Ref Sequence ENSEMBL: ENSMUSP00000105958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065308] [ENSMUST00000110329] [ENSMUST00000129589]
AlphaFold O35484
Predicted Effect probably benign
Transcript: ENSMUST00000065308
AA Change: I258N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: I258N

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 probably benign
Transcript: ENSMUST00000110328
SMART Domains Protein: ENSMUSP00000105957
Gene: ENSMUSG00000037458

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 benign
Transcript: ENSMUST00000110329
AA Change: I258N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: I258N

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: 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 noncoding transcript
Transcript: ENSMUST00000183910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226152
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Bod1l G A 5: 41,989,574 (GRCm39) A383V probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cd4 A T 6: 124,847,414 (GRCm39) F250Y probably benign Het
Clcn4 T A 7: 7,290,813 (GRCm39) Y662F probably benign Het
Cpa2 T C 6: 30,552,020 (GRCm39) V249A probably benign Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dhx57 A G 17: 80,582,511 (GRCm39) Y365H probably damaging Het
Dsg1c A G 18: 20,408,322 (GRCm39) E457G probably benign Het
Eef2k T A 7: 120,457,822 (GRCm39) Y60* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fam178b A T 1: 36,639,606 (GRCm39) D293E probably benign Het
Fbxl21 G A 13: 56,674,873 (GRCm39) V49I probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
H2-M10.4 T C 17: 36,772,736 (GRCm39) E82G probably damaging Het
Hmcn1 A G 1: 150,439,531 (GRCm39) I5434T probably damaging Het
Hormad1 T C 3: 95,492,452 (GRCm39) V343A probably benign Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Iqsec3 T C 6: 121,356,977 (GRCm39) K1035E possibly damaging Het
Ltn1 A T 16: 87,223,174 (GRCm39) V102D probably damaging Het
Mcur1 T C 13: 43,698,016 (GRCm39) T295A probably damaging Het
Pals1 A T 12: 78,871,611 (GRCm39) D397V possibly damaging Het
Pcdha3 T C 18: 37,081,013 (GRCm39) V585A probably damaging Het
Plcd4 A G 1: 74,602,627 (GRCm39) T594A probably damaging Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sesn3 C A 9: 14,233,954 (GRCm39) T309K probably benign Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srsf4 A G 4: 131,601,175 (GRCm39) K34R probably damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Utp3 T C 5: 88,703,458 (GRCm39) V329A probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Vmn2r70 A T 7: 85,214,541 (GRCm39) W204R probably damaging Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
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
H2330:Azin1 UTSW 15 38,497,520 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TCTCCATCCAATACAAGAGGAATG -3'
(R):5'- GCTGTTGTGACTGTTACCAAATAAC -3'

Sequencing Primer
(F):5'- CAAGGTGGTGTGGTTGTATCTAAAAC -3'
(R):5'- GTTACCAAATAACAGTAAAAGCTTGC -3'
Posted On 2015-08-18