Mutagenetix > Incidental Mutation

Incidental Mutation 'R4025:Aoc1'

313439

Institutional Source

Beutler Lab

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

1600012D06Rik, Abp1

MMRRC Submission

040958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48872189-48886122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48885203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 646 (N646I)

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: N646I

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

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: N646I

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: N646I

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

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: N646I

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: N646I

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

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: N646I

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

Meta Mutation Damage Score

0.8339

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	A	G	11: 80,011,512 (GRCm39)	D1293G	probably damaging	Het
Cacna1a	C	T	8: 85,307,962 (GRCm39)	T1409I	probably damaging	Het
Cdk5rap2	T	A	4: 70,168,624 (GRCm39)	K1428N	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Fbxl7	A	G	15: 26,552,905 (GRCm39)	S121P	probably benign	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Gm9920	A	G	15: 54,975,966 (GRCm39)	R25G	probably benign	Het
Golgb1	C	T	16: 36,735,706 (GRCm39)	A1651V	probably benign	Het
Grk3	T	A	5: 113,062,850 (GRCm39)	N666Y	possibly damaging	Het
Mctp2	C	A	7: 71,739,987 (GRCm39)	C801F	possibly damaging	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Nutm2	A	G	13: 50,623,389 (GRCm39)	I29V	probably benign	Het
Odf2	C	T	2: 29,816,827 (GRCm39)	R763W	probably damaging	Het
Or8d4	T	C	9: 40,038,796 (GRCm39)	T154A	probably benign	Het
Papss2	T	C	19: 32,629,323 (GRCm39)	I304T	probably damaging	Het
Polr2a	T	A	11: 69,634,485 (GRCm39)	I693F	possibly damaging	Het
Ppm1d	T	A	11: 85,236,583 (GRCm39)	I454N	probably benign	Het
Ranbp2	A	G	10: 58,316,378 (GRCm39)	E2366G	probably benign	Het
Slc22a20	T	C	19: 6,035,808 (GRCm39)	T121A	probably damaging	Het
Slc4a3	T	C	1: 75,525,685 (GRCm39)	S262P	probably damaging	Het
Slfn4	A	T	11: 83,078,040 (GRCm39)	N276I	probably damaging	Het
Spag7	C	A	11: 70,555,300 (GRCm39)	E130D	probably damaging	Het
Spns1	A	T	7: 125,976,118 (GRCm39)	C28*	probably null	Het
Stab1	C	T	14: 30,876,909 (GRCm39)	G805D	possibly damaging	Het
Swi5	T	C	2: 32,171,800 (GRCm39)	D41G	possibly damaging	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uxs1	T	C	1: 43,841,776 (GRCm39)		probably benign	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Xirp2	A	G	2: 67,341,746 (GRCm39)	D1329G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGGCATTCTTGAAGACTCC -3'
(R):5'- CAGTTCCATTGGAGAGGTGG -3'

Sequencing Primer
(F):5'- GCATTCTTGAAGACTCCCAGGAG -3'
(R):5'- GGGTGGATCTATCATGACCCTAAC -3'

Posted On

2015-04-30