Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02229:Aoc1'

285431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

Abp1, 1600012D06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

48872896-48909188 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 48905909 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 240 (Q240*)

Ref Sequence

ENSEMBL: ENSMUSP00000128816 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000031835
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Q240*

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 null
Transcript: ENSMUST00000162948
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Q240*

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 null
Transcript: ENSMUST00000167529
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Q240*

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,353	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532	N416I	probably benign	Het
Atl1	G	A	12: 69,926,025	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753	I591V	probably benign	Het
Cic	C	A	7: 25,290,950	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556	S397P	probably damaging	Het
D130043K22Rik	T	C	13: 24,875,924	Y593H	probably damaging	Het
Dck	A	G	5: 88,774,105	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077		probably null	Het
Gucy2f	A	G	X: 142,179,988	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428		probably benign	Het
Myo18b	A	G	5: 112,878,110	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800		probably benign	Het
Rab3gap2	A	G	1: 185,259,383	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169		probably benign	Het

Other mutations in Aoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Aoc1	APN	6	48908664	missense	possibly damaging	0.92
IGL01115:Aoc1	APN	6	48906197	missense	probably damaging	1.00
IGL01626:Aoc1	APN	6	48906531	missense	probably damaging	1.00
IGL01891:Aoc1	APN	6	48908842	unclassified	probably benign
IGL01908:Aoc1	APN	6	48906756	missense	probably damaging	1.00
IGL01919:Aoc1	APN	6	48908289	missense	probably damaging	1.00
IGL01960:Aoc1	APN	6	48908603	missense	probably benign	0.00
IGL02102:Aoc1	APN	6	48905962	missense	probably damaging	0.99
IGL02121:Aoc1	APN	6	48906320	unclassified	probably null
IGL02325:Aoc1	APN	6	48905895	missense	possibly damaging	0.46
IGL02626:Aoc1	APN	6	48906110	missense	probably benign	0.04
IGL02737:Aoc1	APN	6	48907643	missense	probably benign	0.01
IGL03244:Aoc1	APN	6	48905822	missense	possibly damaging	0.79
IGL03371:Aoc1	APN	6	48906446	missense	probably benign	0.05
R0100:Aoc1	UTSW	6	48908604	missense	possibly damaging	0.92
R0835:Aoc1	UTSW	6	48905514	missense	probably damaging	1.00
R1240:Aoc1	UTSW	6	48905615	missense	probably benign	0.10
R1400:Aoc1	UTSW	6	48906283	nonsense	probably null
R1400:Aoc1	UTSW	6	48906711	missense	probably benign
R1443:Aoc1	UTSW	6	48905445	missense	possibly damaging	0.95
R1447:Aoc1	UTSW	6	48906242	missense	probably benign	0.00
R1572:Aoc1	UTSW	6	48905786	missense	possibly damaging	0.48
R1850:Aoc1	UTSW	6	48905268	missense	probably benign	0.19
R2008:Aoc1	UTSW	6	48905897	missense	probably damaging	1.00
R2256:Aoc1	UTSW	6	48906440	missense	possibly damaging	0.95
R3429:Aoc1	UTSW	6	48906076	missense	probably benign
R3430:Aoc1	UTSW	6	48906076	missense	probably benign
R3432:Aoc1	UTSW	6	48905844	missense	probably damaging	1.00
R3783:Aoc1	UTSW	6	48905655	missense	probably damaging	1.00
R3786:Aoc1	UTSW	6	48905655	missense	probably damaging	1.00
R3787:Aoc1	UTSW	6	48905655	missense	probably damaging	1.00
R4024:Aoc1	UTSW	6	48908269	missense	probably damaging	1.00
R4025:Aoc1	UTSW	6	48908269	missense	probably damaging	1.00
R4455:Aoc1	UTSW	6	48905467	missense	probably damaging	0.98
R4510:Aoc1	UTSW	6	48907806	missense	probably damaging	0.99
R4511:Aoc1	UTSW	6	48907806	missense	probably damaging	0.99
R4525:Aoc1	UTSW	6	48906675	missense	probably damaging	1.00
R4659:Aoc1	UTSW	6	48906076	missense	probably benign
R4876:Aoc1	UTSW	6	48906747	missense	possibly damaging	0.78
R5150:Aoc1	UTSW	6	48906150	missense	possibly damaging	0.88
R5153:Aoc1	UTSW	6	48908747	missense	probably benign	0.19
R5437:Aoc1	UTSW	6	48907750	missense	probably benign	0.00
R6000:Aoc1	UTSW	6	48907639	missense	probably benign	0.05
R6112:Aoc1	UTSW	6	48908691	missense	probably damaging	1.00
R6195:Aoc1	UTSW	6	48908677	missense	probably damaging	1.00
R6252:Aoc1	UTSW	6	48906081	missense	probably benign	0.01
R6703:Aoc1	UTSW	6	48905714	missense	probably damaging	1.00
R6748:Aoc1	UTSW	6	48906294	missense	possibly damaging	0.84
R6765:Aoc1	UTSW	6	48905937	missense	probably benign	0.00
R6935:Aoc1	UTSW	6	48908227	missense	probably damaging	1.00
R7002:Aoc1	UTSW	6	48905876	missense	probably benign
R7066:Aoc1	UTSW	6	48908619	missense	probably damaging	1.00
R7120:Aoc1	UTSW	6	48906597	missense	probably damaging	1.00
R7234:Aoc1	UTSW	6	48905816	nonsense	probably null
R7362:Aoc1	UTSW	6	48905411	missense	probably benign	0.18
R7452:Aoc1	UTSW	6	48908790	missense	probably benign	0.11
R7618:Aoc1	UTSW	6	48906386	missense	possibly damaging	0.71
R7773:Aoc1	UTSW	6	48906212	missense	probably benign	0.00
R7821:Aoc1	UTSW	6	48905811	missense	probably damaging	1.00
R7837:Aoc1	UTSW	6	48905650	nonsense	probably null
R7920:Aoc1	UTSW	6	48905650	nonsense	probably null
R8010:Aoc1	UTSW	6	48905648	missense	probably benign	0.40
X0066:Aoc1	UTSW	6	48908252	missense	probably damaging	1.00

Posted On

2015-04-16