Incidental Mutation 'IGL02931:Oaz3'
| ID |
364086 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL02931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94340694-94343958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94342287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 123
(N123S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045245]
[ENSMUST00000166032]
[ENSMUST00000191506]
[ENSMUST00000196606]
[ENSMUST00000197495]
[ENSMUST00000197901]
[ENSMUST00000199678]
[ENSMUST00000203883]
[ENSMUST00000204913]
[ENSMUST00000204548]
|
| 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: N168S
|
| SMART Domains |
Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: N168S
| 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: 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 benign
Transcript: ENSMUST00000199678
AA Change: N168S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: N168S
| 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: N46S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203883
AA Change: N123S
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
AA Change: N123S
| 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: 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: ENSMUST00000204548
|
| SMART Domains |
Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
| 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 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
| Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
| Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
| Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
| Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
| Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,304,808 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
| Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
| Lin54 |
T |
C |
5: 100,628,180 (GRCm39) |
I8V |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
| Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
| Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
| Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,891,356 (GRCm39) |
T421I |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
| Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
| Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
| Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
| Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
| Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
| Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
| Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,661,939 (GRCm39) |
Y164H |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
| Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,203,307 (GRCm39) |
F18L |
probably benign |
Het |
|
| Other mutations in Oaz3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation