Incidental Mutation 'R6212:Oaz3'
| ID |
503487 |
| 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 |
044345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R6212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94340694-94343958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94342375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 139
(T139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143080
(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: T139S
|
| SMART Domains |
Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
AA Change: T139S
| 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: T139S
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
AA Change: T139S
| 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
AA Change: T94S
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
AA Change: T94S
| 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: ENSMUST00000204980
AA Change: T17S
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,172,505 (GRCm39) |
I116N |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,630,207 (GRCm39) |
H821N |
unknown |
Het |
| Apex1 |
C |
T |
14: 51,164,350 (GRCm39) |
P264S |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,251,698 (GRCm39) |
Y10C |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,359,278 (GRCm39) |
T208A |
probably benign |
Het |
| Brd4 |
G |
T |
17: 32,421,423 (GRCm39) |
P771Q |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,307,667 (GRCm39) |
S69G |
probably benign |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,800,888 (GRCm39) |
H2519R |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,439,155 (GRCm39) |
N48I |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,353,255 (GRCm39) |
P2803S |
probably damaging |
Het |
| Dusp26 |
G |
A |
8: 31,584,252 (GRCm39) |
D120N |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,719 (GRCm39) |
H160R |
possibly damaging |
Het |
| Erg |
C |
T |
16: 95,180,022 (GRCm39) |
V215I |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,681,189 (GRCm39) |
D124G |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,139,661 (GRCm39) |
H203R |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,319,373 (GRCm39) |
L59P |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,503 (GRCm39) |
M42V |
possibly damaging |
Het |
| Hk2 |
C |
A |
6: 82,705,823 (GRCm39) |
A827S |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,694 (GRCm39) |
E227G |
probably damaging |
Het |
| Itgax |
C |
A |
7: 127,729,504 (GRCm39) |
H31N |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 127,747,025 (GRCm39) |
D942G |
probably benign |
Het |
| Kars1 |
A |
T |
8: 112,726,829 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
C |
18: 12,646,702 (GRCm39) |
F1739L |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,112,445 (GRCm39) |
L155Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,067,431 (GRCm39) |
D1013V |
probably damaging |
Het |
| Mocs1 |
G |
A |
17: 49,742,224 (GRCm39) |
G118S |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,229,650 (GRCm39) |
S37P |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,673,553 (GRCm39) |
|
probably null |
Het |
| Nodal |
C |
T |
10: 61,259,300 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 73,421,950 (GRCm39) |
V999M |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,367 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
A |
G |
9: 19,694,585 (GRCm39) |
D52G |
probably damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,606 (GRCm39) |
T522S |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,554,052 (GRCm39) |
F457S |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,866,729 (GRCm39) |
Y530H |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,270,070 (GRCm39) |
C31S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,220 (GRCm39) |
N24Y |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,709,452 (GRCm39) |
V937A |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,734,830 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,148,861 (GRCm39) |
N2027K |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,884,664 (GRCm39) |
Y565H |
probably benign |
Het |
| Tmem262 |
A |
G |
19: 6,130,668 (GRCm39) |
E62G |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,742,965 (GRCm39) |
|
probably null |
Het |
| Txlnb |
T |
C |
10: 17,675,057 (GRCm39) |
I70T |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,412,923 (GRCm39) |
L25* |
probably null |
Het |
| Zfp326 |
T |
A |
5: 106,058,097 (GRCm39) |
V412E |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,661 (GRCm39) |
R779G |
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 |
|
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 |
|
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'- GCAAGCTCTTGTCTGTGTGC -3'
(R):5'- GGTGTGATTTTAGGACAAAATGAGC -3'
Sequencing Primer
(F):5'- CAAGCTCTTGTCTGTGTGCTACTAG -3'
(R):5'- CCTGGAACTCAATTTGTAGATCAGGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation