Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Aoc1'

420303

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 #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

48872189-48886122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48883380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 419 (R419C)

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: R419C

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: R419C

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: R419C

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: R419C

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: R419C

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: R419C

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
Agk	C	T	6: 40,371,576 (GRCm39)	R358C	probably benign	Het
Ahnak	G	T	19: 8,981,592 (GRCm39)	V959F	possibly damaging	Het
Brf2	T	C	8: 27,615,872 (GRCm39)	D171G	probably benign	Het
Cnot1	T	C	8: 96,501,344 (GRCm39)	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,719 (GRCm39)	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,494,377 (GRCm39)	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,354,422 (GRCm39)	D137N	probably damaging	Het
Erich3	A	T	3: 154,433,114 (GRCm39)	I363F	probably damaging	Het
F13b	T	A	1: 139,434,674 (GRCm39)	C147S	probably damaging	Het
Fam186b	T	C	15: 99,178,258 (GRCm39)	E356G	probably benign	Het
Fat2	T	A	11: 55,201,990 (GRCm39)	R361S	probably benign	Het
Fat4	A	T	3: 39,037,336 (GRCm39)	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,323,687 (GRCm39)	E308*	probably null	Het
Ifna11	A	G	4: 88,738,412 (GRCm39)	K73E	probably benign	Het
Itga10	A	G	3: 96,562,104 (GRCm39)	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,768,563 (GRCm39)	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,051,298 (GRCm39)	A378D	probably damaging	Het
Mixl1	T	C	1: 180,522,191 (GRCm39)	N230S	probably benign	Het
Ncbp1	T	A	4: 46,171,991 (GRCm39)	C786*	probably null	Het
Nup153	C	T	13: 46,836,628 (GRCm39)	S1327N	probably benign	Het
Or4c12b	A	T	2: 89,647,509 (GRCm39)	T280S	possibly damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Osr2	C	A	15: 35,301,000 (GRCm39)	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,851,403 (GRCm39)	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630 (GRCm39)	I107F	probably damaging	Het
Rin2	G	A	2: 145,727,846 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,605,538 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,677,137 (GRCm39)	Y466H	probably null	Het
Slc25a40	C	T	5: 8,477,442 (GRCm39)	P9L	probably benign	Het
Slc27a1	T	C	8: 72,038,052 (GRCm39)	S567P	probably benign	Het
Sox8	G	A	17: 25,786,414 (GRCm39)	R430C	probably damaging	Het
Tacc2	T	C	7: 130,227,791 (GRCm39)	V1492A	possibly damaging	Het
Taf5l	A	G	8: 124,724,725 (GRCm39)	S365P	possibly damaging	Het
Tet2	T	A	3: 133,173,312 (GRCm39)	H1650L	possibly damaging	Het
Tmem117	G	A	15: 94,909,274 (GRCm39)	R229H	probably damaging	Het
Ttc17	A	G	2: 94,216,450 (GRCm39)	L79P	probably damaging	Het
Usp54	A	T	14: 20,639,436 (GRCm39)		probably benign	Het
Zfp455	T	A	13: 67,355,066 (GRCm39)	C111*	probably null	Het
Zmym4	A	C	4: 126,808,881 (GRCm39)	C389G	possibly 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
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
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

2016-08-02