Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03399:Oaz1'

421369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oaz1

Ensembl Gene

ENSMUSG00000035242

Gene Name

ornithine decarboxylase antizyme 1

Synonyms

Antizyme, AZ1, AZ-1, antizyme 1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03399

Quality Score

Status

Chromosome

Chromosomal Location

80662490-80665124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80664176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 84 (S84N)

Ref Sequence

ENSEMBL: ENSMUSP00000137400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053986] [ENSMUST00000060987] [ENSMUST00000177850] [ENSMUST00000179172] [ENSMUST00000179341] [ENSMUST00000179620] [ENSMUST00000180036]

AlphaFold

P54369

Predicted Effect

probably benign
Transcript: ENSMUST00000053986

SMART Domains

Protein: ENSMUSP00000054960
Gene: ENSMUSG00000051067

Domain	Start	End	E-Value	Type
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
AA Change: S83N

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055922
Gene: ENSMUSG00000035242
AA Change: S83N

Domain	Start	End	E-Value	Type
Pfam:ODC_AZ	109	217	1.8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157368

Predicted Effect

probably benign
Transcript: ENSMUST00000177850
AA Change: S82N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000136469
Gene: ENSMUSG00000035242
AA Change: S82N

Domain	Start	End	E-Value	Type
Pfam:ODC_AZ	108	210	5.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179172
AA Change: S84N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136186
Gene: ENSMUSG00000035242
AA Change: S84N

Domain	Start	End	E-Value	Type
PDB:1ZO0\|A	94	155	5e-37	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000179341

Predicted Effect

probably benign
Transcript: ENSMUST00000179620
AA Change: S42N

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136134
Gene: ENSMUSG00000035242
AA Change: S42N

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ODC_AZ	68	176	2.1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180036
AA Change: S84N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137400
Gene: ENSMUSG00000035242
AA Change: S84N

Domain	Start	End	E-Value	Type
Pfam:ODC_AZ	110	218	6.4e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179894

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	C	T	2: 150,479,798 (GRCm39)	G303D	probably damaging	Het
Adam6b	A	T	12: 113,454,728 (GRCm39)	Y515F	probably damaging	Het
Birc2	A	T	9: 7,821,088 (GRCm39)	L412Q	probably damaging	Het
Birc6	T	C	17: 74,901,368 (GRCm39)	I1144T	probably benign	Het
Dip2b	A	T	15: 100,073,208 (GRCm39)	N770I	possibly damaging	Het
Dmxl2	T	C	9: 54,353,956 (GRCm39)	N671D	probably damaging	Het
Dpyd	A	G	3: 119,108,426 (GRCm39)	D823G	probably damaging	Het
Eif5	A	G	12: 111,511,024 (GRCm39)	D367G	probably damaging	Het
Exog	T	G	9: 119,276,017 (GRCm39)	S56A	possibly damaging	Het
Hap1	C	A	11: 100,245,093 (GRCm39)	M39I	possibly damaging	Het
Hsd17b6	A	T	10: 127,829,625 (GRCm39)	H192Q	probably benign	Het
Insrr	T	A	3: 87,716,638 (GRCm39)	L622Q	probably null	Het
Kars1	G	T	8: 112,734,926 (GRCm39)	A20E	probably benign	Het
Kyat3	A	G	3: 142,431,771 (GRCm39)	D197G	probably damaging	Het
Mapk9	T	A	11: 49,774,126 (GRCm39)		probably benign	Het
Naip1	A	T	13: 100,545,426 (GRCm39)	D1367E	probably damaging	Het
Ofcc1	T	C	13: 40,296,314 (GRCm39)	R507G	possibly damaging	Het
Or1j16	T	G	2: 36,530,894 (GRCm39)	V281G	possibly damaging	Het
Or5p6	A	G	7: 107,630,789 (GRCm39)	F254L	probably benign	Het
Or8g24	A	T	9: 38,989,533 (GRCm39)	C169*	probably null	Het
Pclo	T	A	5: 14,816,745 (GRCm39)	D4540E	unknown	Het
Ppp6r1	A	G	7: 4,646,251 (GRCm39)	V150A	probably damaging	Het
Prdm2	T	C	4: 142,861,658 (GRCm39)	D544G	probably benign	Het
Rab27b	A	G	18: 70,120,067 (GRCm39)	I128T	possibly damaging	Het
Scart2	G	A	7: 139,827,869 (GRCm39)	E26K	probably benign	Het
Slc25a1	G	T	16: 17,743,684 (GRCm39)	T195K	probably damaging	Het
Tex10	T	C	4: 48,459,915 (GRCm39)	N479D	probably benign	Het
Thsd7b	G	T	1: 129,556,622 (GRCm39)	W326L	probably damaging	Het
Tril	T	C	6: 53,797,042 (GRCm39)	D60G	probably benign	Het
Ttn	C	T	2: 76,615,625 (GRCm39)	R14984H	probably damaging	Het
Uba2	G	A	7: 33,843,939 (GRCm39)	T12I	probably damaging	Het
Vmn2r107	T	C	17: 20,578,220 (GRCm39)		probably benign	Het
Vti1a	A	G	19: 55,487,703 (GRCm39)	K183R	probably benign	Het
Zkscan16	T	C	4: 58,956,915 (GRCm39)	V399A	probably benign	Het

Other mutations in Oaz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03026:Oaz1	APN	10	80,664,634 (GRCm39)	splice site	probably benign
R7289:Oaz1	UTSW	10	80,662,673 (GRCm39)	missense	possibly damaging	0.86
R9260:Oaz1	UTSW	10	80,662,603 (GRCm39)	missense	possibly damaging	0.94
Z1088:Oaz1	UTSW	10	80,662,663 (GRCm39)	missense	possibly damaging	0.74

Posted On

2016-08-02