Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02737:Aoc1'

305700

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 #

IGL02737

Quality Score

Status

Chromosome

Chromosomal Location

48872189-48886122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48884577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 540 (K540R)

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 benign
Transcript: ENSMUST00000031835
AA Change: K540R

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

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: K540R

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 benign
Transcript: ENSMUST00000162948
AA Change: K540R

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

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: K540R

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 benign
Transcript: ENSMUST00000167529
AA Change: K540R

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

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: K540R

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,566,904 (GRCm39)	H434Q	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,555 (GRCm39)	I50L	probably benign	Het
Ahnak	G	A	19: 8,981,957 (GRCm39)	M1080I	probably benign	Het
Aplp2	T	C	9: 31,064,712 (GRCm39)	M585V	probably benign	Het
C3	A	G	17: 57,511,281 (GRCm39)	L1607P	probably benign	Het
C6	A	G	15: 4,826,396 (GRCm39)	K660E	probably benign	Het
Cabin1	T	C	10: 75,549,419 (GRCm39)	T1329A	probably benign	Het
Ccdc141	T	A	2: 76,888,268 (GRCm39)	N499I	probably damaging	Het
Cdh5	A	G	8: 104,869,560 (GRCm39)	D762G	probably damaging	Het
Cep152	T	C	2: 125,428,394 (GRCm39)	R746G	possibly damaging	Het
Cps1	A	T	1: 67,187,933 (GRCm39)	Q198L	probably benign	Het
Cstpp1	T	A	2: 91,135,142 (GRCm39)	Q9L	probably damaging	Het
Eri3	T	C	4: 117,422,057 (GRCm39)	F112L	probably damaging	Het
Fam180a	C	A	6: 35,290,488 (GRCm39)	R165L	probably benign	Het
Fkbp10	A	C	11: 100,313,481 (GRCm39)	I252L	probably benign	Het
Gtf2f1	G	T	17: 57,310,918 (GRCm39)	Q410K	possibly damaging	Het
Hmcn1	T	C	1: 150,439,579 (GRCm39)	Y5535C	probably damaging	Het
Ifrd2	T	A	9: 107,469,369 (GRCm39)	D372E	probably benign	Het
Il3ra	A	G	14: 14,350,760 (GRCm38)	N165S	probably benign	Het
Kntc1	A	G	5: 123,957,183 (GRCm39)	N2164S	probably benign	Het
Krtap19-9a	A	G	16: 88,721,099 (GRCm39)		noncoding transcript	Het
Nopchap1	T	A	10: 83,200,309 (GRCm39)	M90K	probably damaging	Het
Or12d13	T	A	17: 37,647,664 (GRCm39)	H153L	possibly damaging	Het
Pclo	T	C	5: 14,764,177 (GRCm39)	S4217P	unknown	Het
Ppfibp1	G	A	6: 146,928,806 (GRCm39)	V798I	probably damaging	Het
Prune2	A	T	19: 17,170,775 (GRCm39)	R165*	probably null	Het
Ptges	T	C	2: 30,782,698 (GRCm39)	Y118C	probably damaging	Het
Rab11fip5	C	A	6: 85,325,540 (GRCm39)	G289W	probably damaging	Het
Rfc1	T	C	5: 65,468,506 (GRCm39)	D69G	possibly damaging	Het
Scube1	A	G	15: 83,606,044 (GRCm39)		probably benign	Het
Slc5a6	G	A	5: 31,194,511 (GRCm39)	P565L	probably benign	Het
Sncaip	C	A	18: 53,040,128 (GRCm39)	T774K	probably benign	Het
Spata31f1a	C	A	4: 42,849,431 (GRCm39)	L908F	possibly damaging	Het
Specc1l	G	A	10: 75,082,158 (GRCm39)	S535N	probably damaging	Het
Tbk1	C	T	10: 121,395,767 (GRCm39)	G442E	probably null	Het
Thoc7	A	T	14: 13,953,443 (GRCm38)	M78K	possibly damaging	Het
Usp15	A	G	10: 122,966,937 (GRCm39)	F461S	probably damaging	Het
Vmn2r6	T	A	3: 64,463,911 (GRCm39)	I308L	possibly damaging	Het
Zhx2	C	A	15: 57,685,663 (GRCm39)	T344N	probably damaging	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
IGL01908:Aoc1	APN	6	48,883,690 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16