Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Azin1'

517959

Institutional Source

Beutler Lab

Gene Symbol

Azin1

Ensembl Gene

ENSMUSG00000037458

Gene Name

antizyme inhibitor 1

Synonyms

Oazin, 1700085L02Rik, ODC antizyme inhibitor, Oazi

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38487671-38519510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38492587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 307 (S307R)

Ref Sequence

ENSEMBL: ENSMUSP00000105958 (fasta)

Gene Model

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

AlphaFold

O35484

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065308
AA Change: S307R

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: S307R

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

possibly damaging
Transcript: ENSMUST00000110329
AA Change: S307R

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: S307R

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

0.0953

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,504,779 (GRCm39)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,694 (GRCm39)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,199,065 (GRCm39)	M1K	probably null	Het
Atl2	G	A	17: 80,157,652 (GRCm39)	T563I	probably benign	Het
Ccdc153	A	G	9: 44,157,077 (GRCm39)	T118A	probably benign	Het
Chac1	G	A	2: 119,184,015 (GRCm39)	V206I	probably damaging	Het
Chrm3	A	G	13: 9,927,698 (GRCm39)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,648 (GRCm39)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,536,956 (GRCm39)	P82L	probably damaging	Het
Ddx60	T	A	8: 62,430,984 (GRCm39)	S840T	probably benign	Het
Ddx60	C	T	8: 62,451,715 (GRCm39)	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,984,609 (GRCm39)	N3102K	probably benign	Het
Dst	A	T	1: 34,155,209 (GRCm39)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,785 (GRCm39)	I839M	probably benign	Het
Fam184b	T	A	5: 45,694,995 (GRCm39)	M750L	probably benign	Het
Frem2	T	C	3: 53,479,799 (GRCm39)	T1965A	probably benign	Het
Ftl1	A	T	7: 45,108,634 (GRCm39)	D41E	probably benign	Het
Garem2	G	A	5: 30,321,735 (GRCm39)	W698*	probably null	Het
Glt8d2	T	C	10: 82,488,740 (GRCm39)	Y283C	probably damaging	Het
Hars1	T	C	18: 36,906,643 (GRCm39)	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,605,036 (GRCm39)	S121P	probably damaging	Het
Hus1b	A	T	13: 31,131,188 (GRCm39)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,853,643 (GRCm39)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,848,131 (GRCm39)	M116L	probably benign	Het
Kif22	T	C	7: 126,628,104 (GRCm39)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,467,679 (GRCm39)	E233G	probably benign	Het
Lipg	T	C	18: 75,090,307 (GRCm39)	M81V	probably benign	Het
Mocos	C	T	18: 24,834,513 (GRCm39)	S850L	probably damaging	Het
Mug2	T	A	6: 122,059,713 (GRCm39)	S1364T	probably damaging	Het
Neb	A	T	2: 52,075,340 (GRCm39)	N208K	probably benign	Het
Oca2	G	T	7: 55,978,515 (GRCm39)	R561L	probably benign	Het
Olfm5	A	G	7: 103,803,260 (GRCm39)	L401P	probably damaging	Het
Or12d17	T	A	17: 37,777,971 (GRCm39)	Y291*	probably null	Het
Or2t49	T	C	11: 58,393,166 (GRCm39)	D72G	probably damaging	Het
Or4a39	C	A	2: 89,236,866 (GRCm39)	A186S	possibly damaging	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8g33	T	A	9: 39,338,187 (GRCm39)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,259,860 (GRCm39)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,145,222 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,176,186 (GRCm39)	I418V	probably benign	Het
Pih1d2	T	C	9: 50,529,909 (GRCm39)	V62A	probably benign	Het
Pkib	T	A	10: 57,604,234 (GRCm39)	V46E	probably damaging	Het
Pum1	A	G	4: 130,455,598 (GRCm39)		probably null	Het
Rbak	G	T	5: 143,162,307 (GRCm39)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,781,959 (GRCm39)	T32A	probably damaging	Het
Shprh	T	C	10: 11,043,617 (GRCm39)	W835R	probably damaging	Het
Sis	T	G	3: 72,819,187 (GRCm39)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,327,588 (GRCm39)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,362,401 (GRCm39)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,791,198 (GRCm39)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,621,669 (GRCm39)	I96N	probably damaging	Het
Stx19	T	C	16: 62,642,420 (GRCm39)	S79P	probably damaging	Het
Tecta	C	T	9: 42,286,563 (GRCm39)	V698M	probably damaging	Het
Timm22	T	C	11: 76,301,965 (GRCm39)	S150P	probably damaging	Het
Tjp1	C	T	7: 64,962,953 (GRCm39)	D995N	possibly damaging	Het
Tmem135	T	A	7: 88,797,002 (GRCm39)	T365S	probably benign	Het
Tmem174	T	C	13: 98,773,489 (GRCm39)	T114A	probably benign	Het
Tnc	A	G	4: 63,926,053 (GRCm39)	I909T	probably benign	Het
Trcg1	A	G	9: 57,148,613 (GRCm39)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,575,005 (GRCm39)	*487K	probably null	Het
Unc79	T	A	12: 103,097,905 (GRCm39)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,321,982 (GRCm39)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,614,697 (GRCm39)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,689,861 (GRCm39)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,975,378 (GRCm39)	V194G	probably damaging	Het
Zfp260	A	T	7: 29,804,235 (GRCm39)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,505,016 (GRCm39)	H292L	possibly damaging	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
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'- GGACTCTGACCTCTATTCAAGTCCC -3'
(R):5'- GTGGACCACAACAATAGGCC -3'

Sequencing Primer
(F):5'- GGACAACTTGCATGGATCAGTTCTC -3'
(R):5'- CCCAGTCTCAGTACTGGATTGAG -3'

Posted On

2018-05-24