Mutagenetix > Incidental Mutation

Incidental Mutation 'R2231:Oaz3'

240029

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

040232-MU

Accession Numbers

Essential gene?

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

Stock #

R2231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94340694-94343958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94341846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 130 (T130A)

Ref Sequence

ENSEMBL: ENSMUSP00000145484 (fasta)

Gene Model

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

AlphaFold

Q9R109

Predicted Effect

probably benign
Transcript: ENSMUST00000029787
AA Change: T127A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029787
Gene: ENSMUSG00000028141
AA Change: T127A

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: T175A

SMART Domains

Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: T175A

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 benign
Transcript: ENSMUST00000199678
AA Change: T175A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: T175A

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 benign
Transcript: ENSMUST00000204913
AA Change: N116S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141
AA Change: N116S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203883
AA Change: T130A

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
AA Change: T130A

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

unknown
Transcript: ENSMUST00000204548
AA Change: N71S

SMART Domains

Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141
AA Change: N71S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199318

Predicted Effect

probably benign
Transcript: ENSMUST00000204980

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

0.0715

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,440 (GRCm39)	R336W	probably damaging	Het
Alkbh6	G	A	7: 30,012,015 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Arsa	T	C	15: 89,359,925 (GRCm39)	M1V	probably null	Het
Cblb	T	A	16: 52,014,635 (GRCm39)	S895T	probably benign	Het
Cdk8	A	T	5: 146,168,414 (GRCm39)		probably benign	Het
Coch	G	A	12: 51,649,648 (GRCm39)	V320I	probably benign	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Eif2b5	T	C	16: 20,323,520 (GRCm39)	Y424H	probably benign	Het
Enoph1	C	T	5: 100,188,136 (GRCm39)	T20I	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Nup153	A	G	13: 46,863,103 (GRCm39)		probably null	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or5b12b	A	G	19: 12,861,313 (GRCm39)	I23V	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plekhd1	T	C	12: 80,768,725 (GRCm39)	F403L	possibly damaging	Het
Pou5f1	A	G	17: 35,820,959 (GRCm39)	T134A	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sacs	A	G	14: 61,443,378 (GRCm39)		probably null	Het
Sbno1	A	T	5: 124,543,767 (GRCm39)	D257E	probably damaging	Het
Scn10a	T	C	9: 119,462,916 (GRCm39)	E1040G	possibly damaging	Het
Sgce	T	C	6: 4,730,066 (GRCm39)	K53E	probably benign	Het
Slc6a11	A	G	6: 114,171,590 (GRCm39)	T254A	probably damaging	Het
Spag1	A	G	15: 36,191,313 (GRCm39)	Y180C	probably benign	Het
Ssna1	G	T	2: 25,162,019 (GRCm39)	N58K	possibly damaging	Het
Tbx3	C	A	5: 119,815,589 (GRCm39)	N296K	probably damaging	Het
Tcerg1	A	G	18: 42,657,309 (GRCm39)	T264A	unknown	Het
Trdmt1	A	T	2: 13,530,436 (GRCm39)	F82I	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp33	C	T	3: 152,079,023 (GRCm39)	A425V	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly damaging	Het
Zw10	C	T	9: 48,975,421 (GRCm39)	T282M	possibly damaging	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
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
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'- TCAATCCATCATATCCCTTGAATGG -3'
(R):5'- CAGGTGGAATCCCTTGCTTC -3'

Sequencing Primer
(F):5'- CATCATATCCCTTGAATGGATTCTG -3'
(R):5'- TGGAATCCCTTGCTTCAGAGAAAAG -3'

Posted On

2014-10-15