Incidental Mutation 'R8537:Oaz3'
| ID |
659277 |
| 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 |
067891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R8537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94340694-94343958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94343742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 40
(K40N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145113
(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: K40N
| 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 |
possibly damaging
Transcript: ENSMUST00000199678
AA Change: K40N
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: K40N
| 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: K40N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141
AA Change: K40N
| 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: 99.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,684,491 (GRCm39) |
D1790V |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,338,364 (GRCm39) |
E579V |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,705,644 (GRCm39) |
Y175* |
probably null |
Het |
| Bmp2 |
A |
T |
2: 133,403,202 (GRCm39) |
D251V |
probably damaging |
Het |
| Camsap2 |
T |
A |
1: 136,204,943 (GRCm39) |
K1191N |
probably damaging |
Het |
| Ccdc102a |
A |
C |
8: 95,632,684 (GRCm39) |
F431C |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,798,677 (GRCm39) |
I270M |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,469,672 (GRCm39) |
Q851R |
probably null |
Het |
| Cyp11b2 |
C |
T |
15: 74,728,016 (GRCm39) |
R22K |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,478,628 (GRCm39) |
F186S |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,280,012 (GRCm39) |
Y926C |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,651,300 (GRCm39) |
M162T |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,893,164 (GRCm39) |
G3309V |
probably damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,216,242 (GRCm39) |
F107S |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,107,870 (GRCm39) |
S867T |
probably benign |
Het |
| Eif2ak1 |
C |
A |
5: 143,835,887 (GRCm39) |
T526K |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,140,394 (GRCm39) |
S188P |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,084,671 (GRCm39) |
D36G |
probably benign |
Het |
| Gucy2e |
C |
A |
11: 69,127,179 (GRCm39) |
R98L |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,161,199 (GRCm39) |
|
probably benign |
Het |
| Icos |
A |
G |
1: 61,033,101 (GRCm39) |
D100G |
probably damaging |
Het |
| Ifi203 |
A |
T |
1: 173,756,472 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
T |
A |
9: 44,695,280 (GRCm39) |
L92Q |
probably damaging |
Het |
| Kcnip2 |
C |
T |
19: 45,804,169 (GRCm39) |
|
probably null |
Het |
| Lgr5 |
T |
C |
10: 115,288,307 (GRCm39) |
Y779C |
probably damaging |
Het |
| Ltk |
G |
T |
2: 119,588,588 (GRCm39) |
P287Q |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,652 (GRCm39) |
C852* |
probably null |
Het |
| Mmp27 |
A |
G |
9: 7,579,776 (GRCm39) |
M443V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,184 (GRCm39) |
D769G |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,110,142 (GRCm39) |
I1107V |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,355,520 (GRCm39) |
H211L |
probably benign |
Het |
| Or5as1 |
T |
A |
2: 86,980,382 (GRCm39) |
T208S |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,848 (GRCm39) |
E22D |
probably damaging |
Het |
| Osbpl10 |
G |
T |
9: 115,058,977 (GRCm39) |
A718S |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,503,619 (GRCm39) |
I64K |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,314,266 (GRCm39) |
|
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,746,059 (GRCm39) |
I424T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
G |
T |
3: 30,872,961 (GRCm39) |
R348L |
unknown |
Het |
| Sema5b |
C |
T |
16: 35,471,979 (GRCm39) |
A479V |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,418 (GRCm39) |
I222T |
probably damaging |
Het |
| Sp1 |
C |
T |
15: 102,316,964 (GRCm39) |
T154I |
possibly damaging |
Het |
| Spata31e1 |
A |
G |
13: 49,940,108 (GRCm39) |
V534A |
possibly damaging |
Het |
| Srek1 |
A |
G |
13: 103,888,957 (GRCm39) |
|
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,812,920 (GRCm39) |
S143P |
possibly damaging |
Het |
| Tmem202 |
A |
T |
9: 59,426,929 (GRCm39) |
C194S |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,403 (GRCm39) |
I93K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,606,653 (GRCm39) |
Y16340H |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (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 |
|
|
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 |
|
R9667:Oaz3
|
UTSW |
3 |
94,341,835 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCAGTCTTCCAACACTG -3'
(R):5'- TTGAACCTCTGCGACTTATCCG -3'
Sequencing Primer
(F):5'- ACCTATGAATTGGTTGCAGGCC -3'
(R):5'- GCGACTTATCCGCTGAACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation