Incidental Mutation 'IGL03026:Oaz1'
ID408193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oaz1
Ensembl Gene ENSMUSG00000035242
Gene Nameornithine decarboxylase antizyme 1
SynonymsAZ1, Antizyme, AZ-1, antizyme 1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03026
Quality Score
Status
Chromosome10
Chromosomal Location80826656-80829290 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 80828800 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053986] [ENSMUST00000060987] [ENSMUST00000177850] [ENSMUST00000179172] [ENSMUST00000179341] [ENSMUST00000179620] [ENSMUST00000180036]
Predicted Effect probably benign
Transcript: ENSMUST00000053986
SMART Domains Protein: ENSMUSP00000054960
Gene: ENSMUSG00000051067

DomainStartEndE-ValueType
LRRNT 23 57 1.54e-5 SMART
LRR_TYP 76 99 1.38e-3 SMART
LRR_TYP 100 123 4.94e-5 SMART
LRR 124 147 3.86e0 SMART
LRR 148 171 4.98e-1 SMART
LRR 172 195 1.62e1 SMART
LRR 246 267 3.46e2 SMART
LRR 269 291 3.86e0 SMART
LRR 292 315 3.24e0 SMART
LRR 316 339 4.34e-1 SMART
LRRCT 351 404 7.18e-3 SMART
IGc2 419 486 3.12e-14 SMART
transmembrane domain 526 548 N/A INTRINSIC
low complexity region 571 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060987
SMART Domains Protein: ENSMUSP00000055922
Gene: ENSMUSG00000035242

DomainStartEndE-ValueType
Pfam:ODC_AZ 109 217 1.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157368
Predicted Effect probably benign
Transcript: ENSMUST00000177850
SMART Domains Protein: ENSMUSP00000136469
Gene: ENSMUSG00000035242

DomainStartEndE-ValueType
Pfam:ODC_AZ 108 210 5.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179172
SMART Domains Protein: ENSMUSP00000136186
Gene: ENSMUSG00000035242

DomainStartEndE-ValueType
PDB:1ZO0|A 94 155 5e-37 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000179341
Predicted Effect probably benign
Transcript: ENSMUST00000179620
SMART Domains Protein: ENSMUSP00000136134
Gene: ENSMUSG00000035242

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ODC_AZ 68 176 2.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179894
Predicted Effect probably benign
Transcript: ENSMUST00000180036
SMART Domains Protein: ENSMUSP00000137400
Gene: ENSMUSG00000035242

DomainStartEndE-ValueType
Pfam:ODC_AZ 110 218 6.4e-30 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,519,690 V154A possibly damaging Het
Adcy4 T C 14: 55,778,010 Y481C probably damaging Het
Adcy5 T C 16: 35,157,042 V315A probably benign Het
Atf7ip G A 6: 136,605,382 S1130N possibly damaging Het
Ctss A G 3: 95,538,830 D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 K254N probably benign Het
Dnajc10 A G 2: 80,349,303 D727G probably damaging Het
Dsg3 G A 18: 20,536,972 probably null Het
Ehmt1 T C 2: 24,852,734 M478V probably benign Het
Enam A T 5: 88,503,299 N889I probably benign Het
Exo1 G T 1: 175,908,437 *148L probably null Het
Fam133b G T 5: 3,559,646 probably benign Het
Foxj2 G A 6: 122,838,180 A392T probably benign Het
Gbp4 G T 5: 105,120,000 A460E possibly damaging Het
Has3 A T 8: 106,878,610 I483F probably benign Het
Hist1h1b G A 13: 21,779,947 probably benign Het
Irak2 T A 6: 113,676,651 V260E probably damaging Het
Kcnj8 T C 6: 142,566,473 probably null Het
Lama5 A G 2: 180,195,967 V936A probably benign Het
Lmo7 C T 14: 101,929,333 probably benign Het
Morc3 T A 16: 93,862,724 probably benign Het
Muc6 T C 7: 141,640,147 probably benign Het
Nkx2-2 T C 2: 147,185,822 Y66C probably damaging Het
Olfr1392 A T 11: 49,293,458 I46F probably damaging Het
Olfr768 G A 10: 129,093,188 A262V possibly damaging Het
Olfr808 A T 10: 129,768,041 M182L probably benign Het
Pkd2 A T 5: 104,494,887 probably benign Het
Plcb4 A G 2: 135,950,429 probably benign Het
Ralgapa2 C A 2: 146,460,775 probably benign Het
Rfx7 T C 9: 72,619,685 S1386P probably damaging Het
Ric1 T G 19: 29,599,833 W1046G probably benign Het
Rrp12 C A 19: 41,872,997 R957L probably damaging Het
Scn7a T C 2: 66,676,098 I1482M probably damaging Het
Sema3b T C 9: 107,602,063 N236S probably damaging Het
Skint6 T A 4: 112,991,244 probably null Het
Slfn5 T C 11: 82,956,561 Y91H probably benign Het
Sptbn2 T A 19: 4,724,233 probably null Het
Szt2 A G 4: 118,391,849 L546P probably benign Het
Tas1r3 A G 4: 155,861,843 probably benign Het
Trim75 A G 8: 64,983,786 V4A probably benign Het
Usp19 T C 9: 108,493,145 L56P probably damaging Het
Vmn1r181 T G 7: 23,984,575 I155S possibly damaging Het
Vmn2r43 G T 7: 8,255,097 D372E probably benign Het
Vstm2b C A 7: 40,902,521 S99* probably null Het
Wdr11 A G 7: 129,624,336 D735G probably damaging Het
Wee2 T A 6: 40,461,981 M346K probably benign Het
Zap70 A G 1: 36,779,717 K371R possibly damaging Het
Zfp990 A T 4: 145,537,110 H226L possibly damaging Het
Other mutations in Oaz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03399:Oaz1 APN 10 80828342 missense probably benign 0.34
R7289:Oaz1 UTSW 10 80826839 missense possibly damaging 0.86
Z1088:Oaz1 UTSW 10 80826829 missense possibly damaging 0.74
Posted On2016-08-02