Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Azin1'

661909

Institutional Source

Beutler Lab

Gene Symbol

Azin1

Ensembl Gene

ENSMUSG00000037458

Gene Name

antizyme inhibitor 1

Synonyms

Oazin, 1700085L02Rik, ODC antizyme inhibitor, Oazi

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38487671-38519510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38493775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 283 (L283F)

Ref Sequence

ENSEMBL: ENSMUSP00000065544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065308] [ENSMUST00000110329] [ENSMUST00000129589]

AlphaFold

O35484

PDB Structure

Crystal structure of antizyme inhibitor, an ornithine decarboxylase homologous protein [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065308
AA Change: L283F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: L283F

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 damaging
Transcript: ENSMUST00000110329
AA Change: L283F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: L283F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	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
R3434:Azin1	UTSW	15	38,493,820 (GRCm39)	missense	probably benign	0.00
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
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'- GGTCTGACGCTCTAGTAAAGTAAG -3'
(R):5'- TCCCTGCTAGGTTGGAATTG -3'

Sequencing Primer
(F):5'- GAGGTAGATTCTCCATCCAATACAAG -3'
(R):5'- CCCTGCTAGGTTGGAATTGAATAG -3'

Posted On

2021-03-08