Mutagenetix > Incidental Mutation

Incidental Mutation 'R8247:Oaz3'

640684

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

067674-MU

Accession Numbers

Essential gene?

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

Stock #

R8247 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94340694-94343958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94343741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 41 (Y41H)

Ref Sequence

ENSEMBL: ENSMUSP00000143080 (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

SMART Domains

Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: Y41H

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: Y41H

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

SMART Domains

Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: Y41H

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: ENSMUST00000203883

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141

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 damaging
Transcript: ENSMUST00000204913
AA Change: Y41H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141
AA Change: Y41H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204980

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,942 (GRCm39)	S3P	unknown	Het
Abca15	A	T	7: 119,936,445 (GRCm39)	Y170F	possibly damaging	Het
Alpl	C	T	4: 137,473,764 (GRCm39)	V313M	probably damaging	Het
Ankrd44	T	C	1: 54,792,102 (GRCm39)	H311R	probably damaging	Het
Atm	A	T	9: 53,361,870 (GRCm39)	L2749Q		Het
Bicd2	C	T	13: 49,533,462 (GRCm39)	R683W	probably damaging	Het
Brat1	C	A	5: 140,698,893 (GRCm39)	P342T	possibly damaging	Het
Camta1	T	A	4: 151,159,721 (GRCm39)	T482S	probably damaging	Het
Carhsp1	A	G	16: 8,481,535 (GRCm39)	V67A	probably damaging	Het
Carmil1	T	A	13: 24,282,998 (GRCm39)	N512I	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Cd274	C	T	19: 29,362,795 (GRCm39)	Q286*	probably null	Het
Cep192	T	A	18: 67,974,188 (GRCm39)	I1097N	probably benign	Het
Cimip4	A	C	15: 78,262,992 (GRCm39)	S221A	probably benign	Het
Clvs1	A	T	4: 9,281,885 (GRCm39)	N110Y	possibly damaging	Het
Cntln	A	G	4: 85,019,017 (GRCm39)	T102A	probably benign	Het
Cp	A	C	3: 20,020,570 (GRCm39)	I188L	possibly damaging	Het
Crh	A	G	3: 19,748,291 (GRCm39)	L117P	probably benign	Het
Dcaf1	A	T	9: 106,731,427 (GRCm39)	I635F	possibly damaging	Het
Dennd2c	A	G	3: 103,059,637 (GRCm39)	D521G	probably damaging	Het
E2f2	C	T	4: 135,900,126 (GRCm39)	T12M	possibly damaging	Het
Eid2	G	A	7: 27,967,972 (GRCm39)	R198H	probably damaging	Het
Exosc4	G	T	15: 76,213,279 (GRCm39)	C74F	probably damaging	Het
Fanca	A	T	8: 124,010,694 (GRCm39)		probably benign	Het
Ganc	A	T	2: 120,267,181 (GRCm39)	Q499L	probably null	Het
Gfy	T	C	7: 44,827,710 (GRCm39)	T129A	possibly damaging	Het
Gli3	G	T	13: 15,901,360 (GRCm39)	M1582I	possibly damaging	Het
Gm4744	A	G	6: 40,926,402 (GRCm39)	S63P		Het
Htr2b	T	C	1: 86,027,817 (GRCm39)	T230A	probably benign	Het
Iqcb1	T	A	16: 36,678,836 (GRCm39)	N383K	probably benign	Het
Lpcat1	A	T	13: 73,662,071 (GRCm39)	I471F	probably damaging	Het
Lrch3	T	G	16: 32,829,713 (GRCm39)	L781*	probably null	Het
Lrif1	T	A	3: 106,641,692 (GRCm39)	S3T	probably damaging	Het
Lrp2	T	A	2: 69,261,431 (GRCm39)	R4503S	possibly damaging	Het
Lrrc8c	T	C	5: 105,756,310 (GRCm39)	I695T	probably damaging	Het
Mak	G	A	13: 41,193,146 (GRCm39)	T473M	possibly damaging	Het
Map2k5	A	T	9: 63,279,019 (GRCm39)	Y62N	probably damaging	Het
Mbd3l2	T	C	9: 18,356,299 (GRCm39)	L208P	probably damaging	Het
Myo18b	T	C	5: 112,840,062 (GRCm39)	E2577G	probably damaging	Het
Nfia	A	T	4: 97,953,644 (GRCm39)	T461S	probably benign	Het
Or10ab5	T	A	7: 108,245,370 (GRCm39)	I138F	probably damaging	Het
Or1p1	C	A	11: 74,180,315 (GRCm39)	T281K	noncoding transcript	Het
Or2ad1	A	G	13: 21,326,295 (GRCm39)	S311P	probably benign	Het
Or51m1	T	C	7: 103,578,783 (GRCm39)	V251A	possibly damaging	Het
Pin1rt1	T	C	2: 104,544,892 (GRCm39)	E80G	probably damaging	Het
Pmpcb	T	C	5: 21,961,852 (GRCm39)	Y457H	probably damaging	Het
Polr2b	T	C	5: 77,468,062 (GRCm39)	S121P	possibly damaging	Het
Ppm1e	C	T	11: 87,122,101 (GRCm39)	G619R	probably benign	Het
Pramel5	T	A	4: 143,999,395 (GRCm39)	M231L	probably damaging	Het
Prex2	G	T	1: 11,270,194 (GRCm39)	C1293F	probably benign	Het
Psg20	A	G	7: 18,416,562 (GRCm39)	F185L	probably benign	Het
Psg28	A	G	7: 18,156,864 (GRCm39)	V457A	probably benign	Het
Pxmp2	A	G	5: 110,422,445 (GRCm39)	L188P	probably damaging	Het
Scd3	A	T	19: 44,227,003 (GRCm39)	N279I	possibly damaging	Het
Scg2	T	G	1: 79,414,236 (GRCm39)	K162N	possibly damaging	Het
Sipa1l2	T	C	8: 126,149,372 (GRCm39)	E1629G	probably benign	Het
Slc27a2	T	A	2: 126,395,515 (GRCm39)	F147L	probably benign	Het
Smco1	T	C	16: 32,092,557 (GRCm39)	V76A	probably benign	Het
Spic	T	C	10: 88,511,923 (GRCm39)	K111R	probably damaging	Het
Spidr	A	G	16: 15,786,390 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,063,906 (GRCm39)	I1971F	possibly damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Tiam1	G	A	16: 89,695,037 (GRCm39)	T140M	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ufl1	T	C	4: 25,250,606 (GRCm39)	E749G	probably benign	Het
Vmn1r168	G	T	7: 23,240,487 (GRCm39)	V115F	possibly damaging	Het
Wars2	G	A	3: 99,094,965 (GRCm39)	V87I	probably benign	Het
Zdhhc14	T	A	17: 5,736,031 (GRCm39)	C170S	probably damaging	Het
Zfp113	C	T	5: 138,143,296 (GRCm39)	C318Y	possibly damaging	Het
Zfp367	A	G	13: 64,300,482 (GRCm39)	S108P	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
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
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'- AGGACCAGTCTTCCAACACTG -3'
(R):5'- TGAACCTCTGCGACTTATCCG -3'

Sequencing Primer
(F):5'- ACCTATGAATTGGTTGCAGGCC -3'
(R):5'- GCGACTTATCCGCTGAACC -3'

Posted On

2020-07-28