Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01908:Aoc1'

179719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

1600012D06Rik, Abp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01908

Quality Score

Status

Chromosome

Chromosomal Location

48872189-48886122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48883690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 522 (R522L)

Ref Sequence

ENSEMBL: ENSMUSP00000128816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031835] [ENSMUST00000162948] [ENSMUST00000167529] [ENSMUST00000204856]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031835
AA Change: R522L

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

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: R522L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	44	130	8.8e-26	PFAM
Pfam:Cu_amine_oxidN3	146	246	4.1e-20	PFAM
low complexity region	259	274	N/A	INTRINSIC
Pfam:Cu_amine_oxid	305	720	6.1e-132	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161184

Predicted Effect

probably damaging
Transcript: ENSMUST00000162948
AA Change: R522L

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

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: R522L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	44	130	8.8e-26	PFAM
Pfam:Cu_amine_oxidN3	146	246	4.1e-20	PFAM
low complexity region	259	274	N/A	INTRINSIC
Pfam:Cu_amine_oxid	305	720	6.1e-132	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167529
AA Change: R522L

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

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: R522L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	44	130	2.4e-30	PFAM
Pfam:Cu_amine_oxidN3	146	246	1.5e-23	PFAM
low complexity region	259	274	N/A	INTRINSIC
Pfam:Cu_amine_oxid	305	717	1.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204856

SMART Domains

Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811

Domain	Start	End	E-Value	Type
signal peptide	1	49	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	66	152	4.3e-28	PFAM
Pfam:Cu_amine_oxidN3	168	250	8.9e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	G	T	3: 81,913,877 (GRCm39)	G184*	probably null	Het
Bcr	T	A	10: 74,897,705 (GRCm39)	I283N	possibly damaging	Het
Bscl2	A	G	19: 8,822,640 (GRCm39)	T134A	probably damaging	Het
Clip1	A	G	5: 123,761,270 (GRCm39)		probably benign	Het
Clnk	T	A	5: 38,870,485 (GRCm39)	N358Y	probably damaging	Het
Crnkl1	A	T	2: 145,770,075 (GRCm39)	V256E	probably benign	Het
Ctsm	A	T	13: 61,685,601 (GRCm39)	S270R	probably benign	Het
Dhx57	G	T	17: 80,558,872 (GRCm39)	P1029H	probably damaging	Het
Dock3	A	G	9: 106,783,861 (GRCm39)	M277T	possibly damaging	Het
Fbxo11	T	C	17: 88,299,728 (GRCm39)	K874R	probably benign	Het
Fyco1	A	T	9: 123,658,295 (GRCm39)	L627Q	probably damaging	Het
Ghr	A	T	15: 3,349,929 (GRCm39)	C416*	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif13b	T	C	14: 64,995,007 (GRCm39)	C920R	probably damaging	Het
Lrp1b	T	C	2: 40,592,816 (GRCm39)	T3768A	probably benign	Het
Luzp2	T	G	7: 54,821,944 (GRCm39)	S154A	probably damaging	Het
Or52p1	A	T	7: 104,266,906 (GRCm39)	T7S	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,508,592 (GRCm39)	V838D	probably damaging	Het
Sbf1	A	T	15: 89,186,929 (GRCm39)	D816E	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stim1	T	C	7: 102,084,857 (GRCm39)	V603A	probably benign	Het
Tinagl1	G	T	4: 130,061,223 (GRCm39)	T309K	probably damaging	Het
Trappc11	G	A	8: 47,957,029 (GRCm39)	A799V	probably damaging	Het
Vmn1r113	T	C	7: 20,521,943 (GRCm39)	L245P	probably damaging	Het
Vmn1r40	T	G	6: 89,691,291 (GRCm39)	V36G	probably damaging	Het
Vmn1r40	C	T	6: 89,691,285 (GRCm39)	A34V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Aoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Aoc1	APN	6	48,885,598 (GRCm39)	missense	possibly damaging	0.92
IGL01115:Aoc1	APN	6	48,883,131 (GRCm39)	missense	probably damaging	1.00
IGL01626:Aoc1	APN	6	48,883,465 (GRCm39)	missense	probably damaging	1.00
IGL01891:Aoc1	APN	6	48,885,776 (GRCm39)	unclassified	probably benign
IGL01919:Aoc1	APN	6	48,885,223 (GRCm39)	missense	probably damaging	1.00
IGL01960:Aoc1	APN	6	48,885,537 (GRCm39)	missense	probably benign	0.00
IGL02102:Aoc1	APN	6	48,882,896 (GRCm39)	missense	probably damaging	0.99
IGL02121:Aoc1	APN	6	48,883,254 (GRCm39)	splice site	probably null
IGL02229:Aoc1	APN	6	48,882,843 (GRCm39)	nonsense	probably null
IGL02325:Aoc1	APN	6	48,882,829 (GRCm39)	missense	possibly damaging	0.46
IGL02626:Aoc1	APN	6	48,883,044 (GRCm39)	missense	probably benign	0.04
IGL02737:Aoc1	APN	6	48,884,577 (GRCm39)	missense	probably benign	0.01
IGL03244:Aoc1	APN	6	48,882,756 (GRCm39)	missense	possibly damaging	0.79
IGL03371:Aoc1	APN	6	48,883,380 (GRCm39)	missense	probably benign	0.05
R0100:Aoc1	UTSW	6	48,885,538 (GRCm39)	missense	possibly damaging	0.92
R0835:Aoc1	UTSW	6	48,882,448 (GRCm39)	missense	probably damaging	1.00
R1240:Aoc1	UTSW	6	48,882,549 (GRCm39)	missense	probably benign	0.10
R1400:Aoc1	UTSW	6	48,883,645 (GRCm39)	missense	probably benign
R1400:Aoc1	UTSW	6	48,883,217 (GRCm39)	nonsense	probably null
R1443:Aoc1	UTSW	6	48,882,379 (GRCm39)	missense	possibly damaging	0.95
R1447:Aoc1	UTSW	6	48,883,176 (GRCm39)	missense	probably benign	0.00
R1572:Aoc1	UTSW	6	48,882,720 (GRCm39)	missense	possibly damaging	0.48
R1850:Aoc1	UTSW	6	48,882,202 (GRCm39)	missense	probably benign	0.19
R2008:Aoc1	UTSW	6	48,882,831 (GRCm39)	missense	probably damaging	1.00
R2256:Aoc1	UTSW	6	48,883,374 (GRCm39)	missense	possibly damaging	0.95
R3429:Aoc1	UTSW	6	48,883,010 (GRCm39)	missense	probably benign
R3430:Aoc1	UTSW	6	48,883,010 (GRCm39)	missense	probably benign
R3432:Aoc1	UTSW	6	48,882,778 (GRCm39)	missense	probably damaging	1.00
R3783:Aoc1	UTSW	6	48,882,589 (GRCm39)	missense	probably damaging	1.00
R3786:Aoc1	UTSW	6	48,882,589 (GRCm39)	missense	probably damaging	1.00
R3787:Aoc1	UTSW	6	48,882,589 (GRCm39)	missense	probably damaging	1.00
R4024:Aoc1	UTSW	6	48,885,203 (GRCm39)	missense	probably damaging	1.00
R4025:Aoc1	UTSW	6	48,885,203 (GRCm39)	missense	probably damaging	1.00
R4455:Aoc1	UTSW	6	48,882,401 (GRCm39)	missense	probably damaging	0.98
R4510:Aoc1	UTSW	6	48,884,740 (GRCm39)	missense	probably damaging	0.99
R4511:Aoc1	UTSW	6	48,884,740 (GRCm39)	missense	probably damaging	0.99
R4525:Aoc1	UTSW	6	48,883,609 (GRCm39)	missense	probably damaging	1.00
R4659:Aoc1	UTSW	6	48,883,010 (GRCm39)	missense	probably benign
R4876:Aoc1	UTSW	6	48,883,681 (GRCm39)	missense	possibly damaging	0.78
R5150:Aoc1	UTSW	6	48,883,084 (GRCm39)	missense	possibly damaging	0.88
R5153:Aoc1	UTSW	6	48,885,681 (GRCm39)	missense	probably benign	0.19
R5437:Aoc1	UTSW	6	48,884,684 (GRCm39)	missense	probably benign	0.00
R6000:Aoc1	UTSW	6	48,884,573 (GRCm39)	missense	probably benign	0.05
R6112:Aoc1	UTSW	6	48,885,625 (GRCm39)	missense	probably damaging	1.00
R6195:Aoc1	UTSW	6	48,885,611 (GRCm39)	missense	probably damaging	1.00
R6252:Aoc1	UTSW	6	48,883,015 (GRCm39)	missense	probably benign	0.01
R6703:Aoc1	UTSW	6	48,882,648 (GRCm39)	missense	probably damaging	1.00
R6748:Aoc1	UTSW	6	48,883,228 (GRCm39)	missense	possibly damaging	0.84
R6765:Aoc1	UTSW	6	48,882,871 (GRCm39)	missense	probably benign	0.00
R6935:Aoc1	UTSW	6	48,885,161 (GRCm39)	missense	probably damaging	1.00
R7002:Aoc1	UTSW	6	48,882,810 (GRCm39)	missense	probably benign
R7066:Aoc1	UTSW	6	48,885,553 (GRCm39)	missense	probably damaging	1.00
R7120:Aoc1	UTSW	6	48,883,531 (GRCm39)	missense	probably damaging	1.00
R7234:Aoc1	UTSW	6	48,882,750 (GRCm39)	nonsense	probably null
R7362:Aoc1	UTSW	6	48,882,345 (GRCm39)	missense	probably benign	0.18
R7452:Aoc1	UTSW	6	48,885,724 (GRCm39)	missense	probably benign	0.11
R7618:Aoc1	UTSW	6	48,883,320 (GRCm39)	missense	possibly damaging	0.71
R7773:Aoc1	UTSW	6	48,883,146 (GRCm39)	missense	probably benign	0.00
R7821:Aoc1	UTSW	6	48,882,745 (GRCm39)	missense	probably damaging	1.00
R7837:Aoc1	UTSW	6	48,882,584 (GRCm39)	nonsense	probably null
R8010:Aoc1	UTSW	6	48,882,582 (GRCm39)	missense	probably benign	0.40
R8517:Aoc1	UTSW	6	48,883,644 (GRCm39)	nonsense	probably null
R8774:Aoc1	UTSW	6	48,885,529 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Aoc1	UTSW	6	48,885,529 (GRCm39)	missense	probably damaging	1.00
R8853:Aoc1	UTSW	6	48,882,994 (GRCm39)	missense	probably benign	0.00
R9116:Aoc1	UTSW	6	48,885,522 (GRCm39)	missense	probably damaging	0.97
R9283:Aoc1	UTSW	6	48,882,261 (GRCm39)	missense	probably benign	0.00
R9371:Aoc1	UTSW	6	48,883,102 (GRCm39)	missense	probably benign
R9570:Aoc1	UTSW	6	48,882,772 (GRCm39)	missense	probably damaging	1.00
X0066:Aoc1	UTSW	6	48,885,186 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07