Mutagenetix > Incidental Mutations

Incidental Mutation 'R7452:Aoc1'

577802

Institutional Source

Beutler Lab

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

Abp1, 1600012D06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48872896-48909188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48908790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 743 (V743G)

Ref Sequence

ENSEMBL: ENSMUSP00000031835 (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: V743G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: V743G

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: ENSMUST00000162948
AA Change: V743G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: V743G

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: V743G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: V743G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	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	splice site	probably null
IGL02229:Aoc1	APN	6	48905909	nonsense	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
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
R8010:Aoc1	UTSW	6	48905648	missense	probably benign	0.40
R8517:Aoc1	UTSW	6	48906710	nonsense	probably null
R8774:Aoc1	UTSW	6	48908595	missense	probably damaging	1.00
R8774-TAIL:Aoc1	UTSW	6	48908595	missense	probably damaging	1.00
R8853:Aoc1	UTSW	6	48906060	missense	probably benign	0.00
R9116:Aoc1	UTSW	6	48908588	missense	probably damaging	0.97
R9283:Aoc1	UTSW	6	48905327	missense	probably benign	0.00
R9371:Aoc1	UTSW	6	48906168	missense	probably benign
X0066:Aoc1	UTSW	6	48908252	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGATGTCCCCAACACAG -3'
(R):5'- CCTTTGCATTGGTCATGGAAGTC -3'

Sequencing Primer
(F):5'- GCCACACCTGGAAATTGTG -3'
(R):5'- GAGTAGAGCCAGCCCTCACATG -3'

Posted On

2019-10-07