Incidental Mutation 'R2230:Oaz3'
| ID |
239969 |
| 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 |
040231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R2230 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| 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: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,521,347 (GRCm39) |
N280K |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,340 (GRCm39) |
K53R |
probably benign |
Het |
| Atr |
A |
G |
9: 95,802,818 (GRCm39) |
R1827G |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,625,032 (GRCm39) |
E502G |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,371 (GRCm39) |
M138K |
possibly damaging |
Het |
| Cdon |
T |
C |
9: 35,403,222 (GRCm39) |
|
probably null |
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 |
| Dock2 |
T |
A |
11: 34,244,323 (GRCm39) |
I1036F |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,456,102 (GRCm39) |
D553G |
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 |
| Gm10650 |
A |
G |
3: 127,833,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21850 |
G |
T |
2: 153,900,248 (GRCm39) |
V202L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,435,938 (GRCm39) |
E644D |
possibly damaging |
Het |
| Hypk |
G |
A |
2: 121,287,773 (GRCm39) |
|
probably null |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| Mgll |
G |
A |
6: 88,802,714 (GRCm39) |
V318M |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
| Musk |
A |
T |
4: 58,333,672 (GRCm39) |
I256F |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,888 (GRCm39) |
D759G |
probably benign |
Het |
| Nkx2-1 |
G |
A |
12: 56,580,071 (GRCm39) |
Q290* |
probably null |
Het |
| Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or7g16 |
A |
G |
9: 18,727,021 (GRCm39) |
S190P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,442 (GRCm39) |
T226A |
probably benign |
Het |
| Pabpc2 |
G |
A |
18: 39,908,123 (GRCm39) |
V463I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,941,105 (GRCm39) |
R1302L |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,941,610 (GRCm39) |
|
probably benign |
Het |
| Ppl |
G |
A |
16: 4,906,845 (GRCm39) |
T1150I |
possibly damaging |
Het |
| Prkag2 |
G |
T |
5: 25,113,362 (GRCm39) |
A113E |
probably benign |
Het |
| Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,994,345 (GRCm39) |
T380A |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,477,437 (GRCm39) |
Q5123K |
probably benign |
Het |
| Tbc1d21 |
A |
C |
9: 58,270,363 (GRCm39) |
N137K |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,699,573 (GRCm39) |
C317Y |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,223,047 (GRCm39) |
I1377N |
probably damaging |
Het |
| Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,865,260 (GRCm39) |
V544A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,569,527 (GRCm39) |
F267L |
probably benign |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
| Vwa8 |
T |
C |
14: 79,329,843 (GRCm39) |
|
probably null |
Het |
| Zfp708 |
A |
T |
13: 67,219,036 (GRCm39) |
Y229* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,775,242 (GRCm39) |
M1745K |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATCCATCATATCCCTTGAATGG -3'
(R):5'- AATCAGGTGGAATCCCTTGC -3'
Sequencing Primer
(F):5'- CATCATATCCCTTGAATGGATTCTG -3'
(R):5'- ATCAGGTGGAATCCCTTGCTTCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation