Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4791001:Oaz3'

556959

Institutional Source

Beutler Lab

Gene Symbol

Oaz3

Ensembl Gene

ENSMUSG00000028141

Gene Name

ornithine decarboxylase antizyme 3

Synonyms

AZ3, ornithine decarboxylase antizyme in testis, AZ-3, Oaz-t, antizyme 3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

PIT4791001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94340694-94343958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94340852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 232 (Y232H)

Ref Sequence

ENSEMBL: ENSMUSP00000139408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045245] [ENSMUST00000166032] [ENSMUST00000191506] [ENSMUST00000196606] [ENSMUST00000197495] [ENSMUST00000197901] [ENSMUST00000199678] [ENSMUST00000203883] [ENSMUST00000204548] [ENSMUST00000204913]

AlphaFold

Q9R109

Predicted Effect

probably benign
Transcript: ENSMUST00000045245

SMART Domains

Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166032

SMART Domains

Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000191506
AA Change: Y232H

SMART Domains

Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: Y232H

Domain	Start	End	E-Value	Type
low complexity region	67	88	N/A	INTRINSIC
Pfam:ODC_AZ	137	233	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196606

SMART Domains

Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	116	1.5e-11	SMART
KH	119	191	2.4e-17	SMART
TUDOR	348	406	1.7e-8	SMART
low complexity region	425	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197495

SMART Domains

Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	150	3e-18	SMART
TUDOR	307	365	1.7e-8	SMART
low complexity region	384	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197901

SMART Domains

Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199678
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: Y232H

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC
Pfam:ODC_AZ	90	186	1.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203883
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
AA Change: Y187H

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:ODC_AZ	91	189	4.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204548

SMART Domains

Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204913

SMART Domains

Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	71	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204980

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

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 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. This transcript initiates translation from a non-AUG (CUG) codon that is highly conserved among the antizyme 3 orthologs. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility due to detachment of sperm tail and head during sperm maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	G	A	15: 72,993,089 (GRCm39)	T472I	possibly damaging	Het
Ambp	T	A	4: 63,072,298 (GRCm39)		probably benign	Het
As3mt	T	A	19: 46,708,788 (GRCm39)	F261I	probably damaging	Het
Atxn1l	A	G	8: 110,458,579 (GRCm39)	L561P	probably damaging	Het
Cnr2	A	G	4: 135,644,263 (GRCm39)	T114A	probably damaging	Het
Dchs1	A	G	7: 105,408,178 (GRCm39)	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,343,604 (GRCm39)	N188S	probably benign	Het
Dennd6b	A	C	15: 89,070,955 (GRCm39)		probably null	Het
Dstyk	A	G	1: 132,377,665 (GRCm39)	T424A	probably benign	Het
Gabrr3	A	G	16: 59,250,298 (GRCm39)		probably null	Het
Gnai3	A	G	3: 108,025,621 (GRCm39)	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,197,599 (GRCm39)	S90R	probably damaging	Het
Lxn	T	C	3: 67,365,979 (GRCm39)	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,342,307 (GRCm39)	I1600N	probably damaging	Het
Myof	A	T	19: 37,971,406 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,762,931 (GRCm39)		probably benign	Het
Or5aq1b	A	T	2: 86,902,046 (GRCm39)	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,527,577 (GRCm39)	R252*	probably null	Het
Plcl1	A	G	1: 55,741,090 (GRCm39)	N907S	probably benign	Het
Plscr1	T	A	9: 92,145,150 (GRCm39)	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756 (GRCm39)	T377A	probably benign	Het
Ptchd3	T	A	11: 121,722,875 (GRCm39)	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,829 (GRCm39)	I366T	probably damaging	Het
Sardh	T	C	2: 27,087,660 (GRCm39)	E737G	probably damaging	Het
Scart2	T	C	7: 139,853,975 (GRCm39)	F326S	possibly damaging	Het
Scn1a	T	C	2: 66,103,626 (GRCm39)	E1878G	probably benign	Het
Slit3	T	C	11: 35,552,072 (GRCm39)	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,713,195 (GRCm39)	Q1054*	probably null	Het
Syne3	T	C	12: 104,929,438 (GRCm39)	T261A	probably benign	Het
Tgif2	T	C	2: 156,695,232 (GRCm39)	S126P	probably benign	Het
Ticrr	T	C	7: 79,319,386 (GRCm39)	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,113,635 (GRCm39)	I299V	probably benign	Het
Tnks1bp1	A	G	2: 84,892,902 (GRCm39)	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,141,681 (GRCm39)	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263 (GRCm39)	L176P	probably benign	Het
Trim34a	C	A	7: 103,909,691 (GRCm39)	T293K	probably benign	Het
Ttc23	A	T	7: 67,312,135 (GRCm39)	D14V	probably damaging	Het
Twsg1	T	C	17: 66,236,706 (GRCm39)	E108G	probably benign	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Vmn1r183	A	G	7: 23,754,266 (GRCm39)	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,449,028 (GRCm39)	V279A	probably damaging	Het
Vmo1	A	C	11: 70,404,661 (GRCm39)	C113W	probably damaging	Het
Zfp984	A	G	4: 147,840,603 (GRCm39)	S83P	probably benign	Het
Zik1	A	C	7: 10,226,256 (GRCm39)	L37R	probably benign	Het

Other mutations in Oaz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02931:Oaz3	APN	3	94,342,287 (GRCm39)	missense	probably benign	0.15
PIT4366001:Oaz3	UTSW	3	94,340,901 (GRCm39)	missense	unknown
R1004:Oaz3	UTSW	3	94,342,350 (GRCm39)	missense	probably damaging	1.00
R1833:Oaz3	UTSW	3	94,343,349 (GRCm39)	unclassified	probably benign
R2230:Oaz3	UTSW	3	94,341,846 (GRCm39)	missense	probably benign	0.21
R2231:Oaz3	UTSW	3	94,341,846 (GRCm39)	missense	probably benign	0.21
R2232:Oaz3	UTSW	3	94,341,846 (GRCm39)	missense	probably benign	0.21
R4487:Oaz3	UTSW	3	94,342,437 (GRCm39)	splice site	probably null
R4776:Oaz3	UTSW	3	94,342,305 (GRCm39)	missense	probably benign	0.00
R5502:Oaz3	UTSW	3	94,342,392 (GRCm39)	missense	probably damaging	1.00
R5930:Oaz3	UTSW	3	94,343,717 (GRCm39)	missense	possibly damaging	0.89
R6212:Oaz3	UTSW	3	94,342,375 (GRCm39)	missense	probably benign	0.23
R6362:Oaz3	UTSW	3	94,342,295 (GRCm39)	missense	probably damaging	0.99
R8247:Oaz3	UTSW	3	94,343,741 (GRCm39)	missense	probably damaging	1.00
R8273:Oaz3	UTSW	3	94,342,434 (GRCm39)	missense	probably damaging	1.00
R8537:Oaz3	UTSW	3	94,343,742 (GRCm39)	missense	probably damaging	0.99
R9667:Oaz3	UTSW	3	94,341,835 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAGATGCTCAGTAAATGGG -3'
(R):5'- CTCTCTTGAGAAAACATGTATGAGGAG -3'

Sequencing Primer
(F):5'- AGAGTTATATTCCTCCAACAGTCC -3'
(R):5'- AGGAGTATATGGGCTGAGCTTC -3'

Posted On

2019-06-07