Incidental Mutation 'R3434:Azin1'
| ID |
266364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azin1
|
| Ensembl Gene |
ENSMUSG00000037458 |
| Gene Name |
antizyme inhibitor 1 |
| Synonyms |
Oazin, 1700085L02Rik, ODC antizyme inhibitor, Oazi |
| MMRRC Submission |
040652-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38487671-38519510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38493820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 268
(I268V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065308]
[ENSMUST00000110329]
[ENSMUST00000129589]
|
| AlphaFold |
O35484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065308
AA Change: I268V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: I268V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orn_Arg_deC_N
|
44 |
279 |
5.2e-66 |
PFAM |
|
Pfam:Orn_DAP_Arg_deC
|
282 |
406 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110328
|
| SMART Domains |
Protein: ENSMUSP00000105957
Gene: ENSMUSG00000037458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orn_Arg_deC_N
|
44 |
279 |
9.4e-67 |
PFAM |
|
Pfam:Orn_DAP_Arg_deC
|
282 |
357 |
7.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110329
AA Change: I268V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: I268V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orn_Arg_deC_N
|
44 |
279 |
5.4e-69 |
PFAM |
|
Pfam:Orn_DAP_Arg_deC
|
283 |
405 |
3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129589
|
| SMART Domains |
Protein: ENSMUSP00000117988
Gene: ENSMUSG00000037458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orn_Arg_deC_N
|
44 |
154 |
1.8e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226152
|
| Meta Mutation Damage Score |
0.2289 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous disruption of this gene results in neonatal lethality, a slight reduction in birth weight, and abnormal liver morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,508,511 (GRCm39) |
A1008V |
probably damaging |
Het |
| Adora3 |
A |
G |
3: 105,812,231 (GRCm39) |
K39R |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,742,760 (GRCm39) |
V1085A |
probably damaging |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,480,769 (GRCm39) |
F81S |
probably damaging |
Het |
| Ccnjl |
A |
G |
11: 43,470,688 (GRCm39) |
Y152C |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,931,610 (GRCm39) |
I61F |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,514,522 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
T |
A |
9: 97,336,768 (GRCm39) |
D903V |
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,494,126 (GRCm39) |
V70I |
probably benign |
Het |
| Drg2 |
A |
T |
11: 60,352,218 (GRCm39) |
K180* |
probably null |
Het |
| Dync2h1 |
A |
C |
9: 7,011,236 (GRCm39) |
H3659Q |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,047,870 (GRCm39) |
Y349F |
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,040,865 (GRCm39) |
N533D |
probably benign |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Fasn |
G |
A |
11: 120,713,599 (GRCm39) |
A24V |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,308 (GRCm39) |
T158A |
probably benign |
Het |
| Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,355,883 (GRCm39) |
M358K |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Lhx4 |
A |
G |
1: 155,578,147 (GRCm39) |
Y332H |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,940 (GRCm39) |
K44E |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or2ag13 |
A |
T |
7: 106,472,976 (GRCm39) |
Y159N |
probably benign |
Het |
| Or4a67 |
T |
C |
2: 88,598,413 (GRCm39) |
D82G |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,418 (GRCm39) |
F204L |
probably benign |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,489,482 (GRCm39) |
T363A |
probably benign |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,234 (GRCm39) |
A1047T |
probably damaging |
Het |
| Ppat |
A |
G |
5: 77,065,912 (GRCm39) |
I402T |
probably damaging |
Het |
| Rpgr |
A |
G |
X: 10,042,841 (GRCm39) |
S656P |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,110,928 (GRCm39) |
|
probably benign |
Het |
| Sacs |
A |
G |
14: 61,449,752 (GRCm39) |
K3933E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,847 (GRCm39) |
I1681V |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,274,432 (GRCm39) |
D1016G |
probably benign |
Het |
| Sf3a3 |
C |
A |
4: 124,618,870 (GRCm39) |
T277N |
possibly damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,964,396 (GRCm39) |
I279T |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,874,877 (GRCm39) |
T142A |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,321,376 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,698,721 (GRCm39) |
T5A |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,708,381 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 188,465,955 (GRCm39) |
P2841L |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,330,370 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Azin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02174:Azin1
|
APN |
15 |
38,493,730 (GRCm39) |
missense |
probably benign |
|
|
IGL02406:Azin1
|
APN |
15 |
38,491,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
H2330:Azin1
|
UTSW |
15 |
38,497,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0562:Azin1
|
UTSW |
15 |
38,493,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3416:Azin1
|
UTSW |
15 |
38,493,790 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3978:Azin1
|
UTSW |
15 |
38,498,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4535:Azin1
|
UTSW |
15 |
38,493,849 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4720:Azin1
|
UTSW |
15 |
38,493,744 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5266:Azin1
|
UTSW |
15 |
38,491,795 (GRCm39) |
missense |
probably benign |
|
|
R6416:Azin1
|
UTSW |
15 |
38,492,587 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7242:Azin1
|
UTSW |
15 |
38,501,749 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7283:Azin1
|
UTSW |
15 |
38,501,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7577:Azin1
|
UTSW |
15 |
38,501,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Azin1
|
UTSW |
15 |
38,491,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Azin1
|
UTSW |
15 |
38,492,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Azin1
|
UTSW |
15 |
38,493,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Azin1
|
UTSW |
15 |
38,490,646 (GRCm39) |
missense |
probably benign |
|
|
R9420:Azin1
|
UTSW |
15 |
38,493,871 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACGCTCTAGTAAAGTAAGAGGTAG -3'
(R):5'- TCCCTGCTAGGTTGGAATTG -3'
Sequencing Primer
(F):5'- GTAGATTCTCCATCCAATACAAGAGG -3'
(R):5'- CCCTGCTAGGTTGGAATTGAATAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation