Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Oaz3'

97916

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

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

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

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94340694-94343958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94342350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 102 (H102L)

Ref Sequence

ENSEMBL: ENSMUSP00000145484 (fasta)

Gene Model

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

AlphaFold

Q9R109

Predicted Effect

probably damaging
Transcript: ENSMUST00000029787
AA Change: H99L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029787
Gene: ENSMUSG00000028141
AA Change: H99L

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC
Pfam:ODC_AZ	88	186	3.8e-18	PFAM

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: H147L

SMART Domains

Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: H147L

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

noncoding transcript
Transcript: ENSMUST00000196799

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 damaging
Transcript: ENSMUST00000199678
AA Change: H147L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: H147L

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

unknown
Transcript: ENSMUST00000204980
AA Change: H25L

Predicted Effect

probably damaging
Transcript: ENSMUST00000203883
AA Change: H102L

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

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
AA Change: H102L

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

noncoding transcript
Transcript: ENSMUST00000199318

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

Meta Mutation Damage Score

0.2729

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,042,780 (GRCm39)	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,780,386 (GRCm39)	E453V	probably damaging	Het
Agxt	A	G	1: 93,063,421 (GRCm39)	M108V	possibly damaging	Het
Akap13	T	C	7: 75,337,034 (GRCm39)	I831T	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arid1a	A	G	4: 133,414,586 (GRCm39)	M1215T	unknown	Het
Cd163	G	T	6: 124,302,306 (GRCm39)	D957Y	probably damaging	Het
Ces2e	A	G	8: 105,656,370 (GRCm39)	D200G	probably damaging	Het
Cfap54	T	C	10: 92,902,558 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 113,888,671 (GRCm39)		probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dpp4	T	A	2: 62,162,984 (GRCm39)	Q754L	probably benign	Het
Ece1	A	G	4: 137,653,550 (GRCm39)	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544 (GRCm39)	V779M	possibly damaging	Het
Gatm	C	T	2: 122,440,141 (GRCm39)		probably benign	Het
Gpc2	A	G	5: 138,276,487 (GRCm39)	L213P	probably damaging	Het
Hook1	A	C	4: 95,910,524 (GRCm39)	N713H	probably benign	Het
Kdm5b	T	A	1: 134,516,642 (GRCm39)	I178K	possibly damaging	Het
Mettl9	G	A	7: 120,675,460 (GRCm39)	V287I	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,378,353 (GRCm39)	T3774I	probably benign	Het
Nup58	C	A	14: 60,484,930 (GRCm39)		probably benign	Het
Nxf1	A	T	19: 8,741,681 (GRCm39)	T119S	probably benign	Het
Or8g2b	T	C	9: 39,751,276 (GRCm39)	F182S	probably benign	Het
Pfpl	A	T	19: 12,407,789 (GRCm39)	Q680L	probably benign	Het
Poli	T	A	18: 70,658,509 (GRCm39)	Q75L	probably benign	Het
Ppp2r3d	C	T	9: 101,075,829 (GRCm39)		probably null	Het
Prr30	A	G	14: 101,436,529 (GRCm39)	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,688,493 (GRCm39)	Y345F	probably benign	Het
Ric1	A	G	19: 29,579,757 (GRCm39)	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,518,225 (GRCm39)		probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Skp1	G	C	11: 52,128,207 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,320,786 (GRCm39)	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,595,763 (GRCm39)	N35S	probably damaging	Het
Tcstv2c	T	A	13: 120,616,558 (GRCm39)	D132E	probably benign	Het
Xrcc5	A	G	1: 72,422,937 (GRCm39)		probably benign	Het
Zfp235	T	A	7: 23,840,169 (GRCm39)	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,133,103 (GRCm39)		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
PIT4791001:Oaz3	UTSW	3	94,340,852 (GRCm39)	missense	unknown
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'- TGAGTCTAAGTCCAGCAACTGACCC -3'
(R):5'- AGCAAGATGACACCCTGAGCTTCC -3'

Sequencing Primer
(F):5'- GAACTGCAAGCTCTTGTCTG -3'
(R):5'- atctgcctgcctctgcc -3'

Posted On

2014-01-05