Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Azin1'

586538

Institutional Source

Beutler Lab

Gene Symbol

Azin1

Ensembl Gene

ENSMUSG00000037458

Gene Name

antizyme inhibitor 1

Synonyms

Oazin, 1700085L02Rik, ODC antizyme inhibitor, Oazi

MMRRC Submission

045662-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38487671-38519510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38501665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 29 (V29I)

Ref Sequence

ENSEMBL: ENSMUSP00000065544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065308] [ENSMUST00000110329] [ENSMUST00000127848] [ENSMUST00000129589] [ENSMUST00000151319]

AlphaFold

O35484

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065308
AA Change: V29I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000065544
Gene: ENSMUSG00000037458
AA Change: V29I

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: V29I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105958
Gene: ENSMUSG00000037458
AA Change: V29I

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: ENSMUST00000127848
AA Change: V29I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000129589
AA Change: V29I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117988
Gene: ENSMUSG00000037458
AA Change: V29I

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	44	154	1.8e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151319
AA Change: V29I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000119201
Gene: ENSMUSG00000037458
AA Change: V29I

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	44	149	9.5e-34	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	T	10: 78,902,325 (GRCm39)	V664M	possibly damaging	Het
Abca4	A	G	3: 121,967,663 (GRCm39)	T2238A	probably damaging	Het
Adss2	G	A	1: 177,595,263 (GRCm39)	Q426*	probably null	Het
Afap1l2	T	C	19: 56,933,199 (GRCm39)	E71G	probably damaging	Het
Afg1l	T	C	10: 42,194,607 (GRCm39)	D395G	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Alms1	A	G	6: 85,592,302 (GRCm39)	T385A	probably benign	Het
Ank3	C	T	10: 69,828,402 (GRCm39)	T2357I		Het
Ankfn1	T	A	11: 89,394,797 (GRCm39)	S263C	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
B3galt2	T	C	1: 143,523,042 (GRCm39)	Y393H	probably damaging	Het
Cnbd2	G	T	2: 156,170,296 (GRCm39)	R127L	possibly damaging	Het
Col6a5	A	T	9: 105,741,887 (GRCm39)	L2344*	probably null	Het
Csn3	T	C	5: 88,077,821 (GRCm39)	V109A	not run	Het
Cxcr2	C	G	1: 74,198,074 (GRCm39)	N189K	probably benign	Het
Dclre1a	A	G	19: 56,517,965 (GRCm39)	F1038S	probably damaging	Het
Ddx21	T	C	10: 62,426,449 (GRCm39)	Q468R	probably benign	Het
Dlx6	A	G	6: 6,863,423 (GRCm39)	D15G	probably damaging	Het
Dnajb14	T	C	3: 137,610,558 (GRCm39)	V262A	possibly damaging	Het
Dpp7	A	G	2: 25,245,603 (GRCm39)	V161A	probably benign	Het
Enkur	C	T	2: 21,209,913 (GRCm39)	S16N	probably benign	Het
Ensa	C	A	3: 95,535,956 (GRCm39)	H96Q	probably damaging	Het
Ero1b	T	G	13: 12,617,254 (GRCm39)	C393G	probably damaging	Het
Fbxo3	T	C	2: 103,881,543 (GRCm39)	F292L	possibly damaging	Het
Fcgbpl1	A	G	7: 27,853,848 (GRCm39)	D1604G	possibly damaging	Het
Fos	T	C	12: 85,521,871 (GRCm39)	S102P	probably benign	Het
Foxs1	C	T	2: 152,774,361 (GRCm39)	G231S	probably benign	Het
Furin	T	C	7: 80,046,734 (GRCm39)	D174G	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gm32687	T	A	10: 81,716,023 (GRCm39)	C472S	probably damaging	Het
Gmip	A	G	8: 70,267,085 (GRCm39)	E327G	probably benign	Het
Gpld1	A	G	13: 25,146,388 (GRCm39)	T211A	probably benign	Het
Grin2d	T	C	7: 45,511,803 (GRCm39)	H214R	probably benign	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hnrnpd	A	T	5: 100,115,113 (GRCm39)	F142I	probably damaging	Het
Krt32	T	A	11: 99,972,047 (GRCm39)	T434S	probably benign	Het
Lct	T	G	1: 128,228,469 (GRCm39)	D1008A	probably damaging	Het
Man1c1	A	G	4: 134,291,814 (GRCm39)		probably null	Het
Marchf7	T	A	2: 60,060,048 (GRCm39)	C58*	probably null	Het
Mccc1	C	T	3: 36,029,943 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,385,187 (GRCm39)	D484V	probably damaging	Het
Myh10	T	A	11: 68,636,806 (GRCm39)	C227S	unknown	Het
Niban1	T	A	1: 151,594,063 (GRCm39)	V916E	probably benign	Het
Nin	T	C	12: 70,109,480 (GRCm39)	E153G		Het
Nr1h2	G	A	7: 44,200,216 (GRCm39)	T313M	probably damaging	Het
Or4g7	T	A	2: 111,309,477 (GRCm39)	I116K	probably damaging	Het
Or5k15	G	T	16: 58,709,629 (GRCm39)	A318D	probably benign	Het
Otog	C	A	7: 45,937,279 (GRCm39)	H1663N	possibly damaging	Het
Piezo2	G	T	18: 63,186,081 (GRCm39)	T1696K	probably benign	Het
Plcd1	A	T	9: 118,901,322 (GRCm39)	N703K	possibly damaging	Het
Plekhg4	T	A	8: 106,102,031 (GRCm39)	C7S	probably benign	Het
Pnma2	A	G	14: 67,153,428 (GRCm39)		probably benign	Het
Potegl	A	G	2: 23,097,837 (GRCm39)	Y5C	probably benign	Het
Prag1	A	G	8: 36,614,096 (GRCm39)	Y1216C	probably damaging	Het
Prima1	T	C	12: 103,163,566 (GRCm39)	Y135C	probably damaging	Het
Prkce	C	A	17: 86,800,721 (GRCm39)	S379*	probably null	Het
Prmt7	A	G	8: 106,968,835 (GRCm39)	N383S	probably damaging	Het
Ptafr	A	G	4: 132,307,063 (GRCm39)	Y151C	probably damaging	Het
Ptprn2	T	C	12: 116,449,486 (GRCm39)	M1T	probably null	Het
Rad23a	A	T	8: 85,565,108 (GRCm39)	S136T	probably benign	Het
Rnf123	A	T	9: 107,947,818 (GRCm39)	Y137N	probably damaging	Het
Sfxn4	A	C	19: 60,842,324 (GRCm39)	I126S	probably benign	Het
Slc4a4	A	G	5: 89,373,726 (GRCm39)	H935R	probably damaging	Het
Slitrk3	T	G	3: 72,958,448 (GRCm39)	N108T	probably damaging	Het
Spred1	T	A	2: 117,007,806 (GRCm39)	H237Q	probably benign	Het
Syne1	T	A	10: 5,074,820 (GRCm39)	K1168N	probably damaging	Het
Syt14	T	C	1: 192,665,885 (GRCm39)	K340E	unknown	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tmem268	G	T	4: 63,480,681 (GRCm39)		probably benign	Het
Tmem52b	T	A	6: 129,493,040 (GRCm39)	Y48*	probably null	Het
Tox2	C	A	2: 163,157,822 (GRCm39)	Y295*	probably null	Het
Trp53bp1	T	G	2: 121,067,119 (GRCm39)	T536P	possibly damaging	Het
Tysnd1	T	C	10: 61,531,665 (GRCm39)	C106R	probably benign	Het
Unc5d	T	C	8: 29,381,449 (GRCm39)	I63V	probably damaging	Het
Vmn1r235	A	G	17: 21,481,881 (GRCm39)	N69D	possibly damaging	Het
Vps11	A	T	9: 44,260,258 (GRCm39)	M868K	probably benign	Het
Wipf3	A	G	6: 54,462,509 (GRCm39)	T240A	possibly damaging	Het
Xirp2	G	A	2: 67,345,309 (GRCm39)	E2517K	possibly damaging	Het
Ylpm1	T	A	12: 85,043,994 (GRCm39)	L244Q	unknown	Het
Zdhhc18	G	T	4: 133,342,520 (GRCm39)	S198*	probably null	Het
Zfp760	T	A	17: 21,941,242 (GRCm39)	L139*	probably null	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
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'- AACAGGGTTCTATGATTGTTTCCTG -3'
(R):5'- TTCTAAGGACCCAGACATAGGC -3'

Sequencing Primer
(F):5'- GATCAAACTGTATCAACACATACTGG -3'
(R):5'- ACCCAGACATAGGCTTGGTG -3'

Posted On

2019-10-24