Mutagenetix > Incidental Mutation

Incidental Mutation 'R4525:Aoc1'

334407

Institutional Source

Beutler Lab

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

1600012D06Rik, Abp1

MMRRC Submission

041767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48872189-48886122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48883609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 495 (Y495C)

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: Y495C

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

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Y495C

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: Y495C

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

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Y495C

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: Y495C

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

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Y495C

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

0.4794

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (32/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	G	2: 32,464,388 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,049 (GRCm39)	V510A	probably damaging	Het
Asap2	G	A	12: 21,279,293 (GRCm39)		probably null	Het
Cd47	T	C	16: 49,688,155 (GRCm39)	V25A	probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Cpne3	G	T	4: 19,523,206 (GRCm39)	P527H	probably damaging	Het
Erbin	T	C	13: 103,993,600 (GRCm39)	I347V	probably benign	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Hivep1	T	A	13: 42,309,289 (GRCm39)	C510S	probably benign	Het
Hnrnpk	A	G	13: 58,541,696 (GRCm39)		probably benign	Het
Iqcf4	T	A	9: 106,447,827 (GRCm39)	Q27H	possibly damaging	Het
Kcna4	C	A	2: 107,125,410 (GRCm39)	T48K	possibly damaging	Het
Loxhd1	T	A	18: 77,444,608 (GRCm39)	C336S	probably damaging	Het
Ltbp3	A	G	19: 5,796,387 (GRCm39)	T306A	probably benign	Het
Oplah	G	T	15: 76,189,709 (GRCm39)	L176M	probably damaging	Het
Pon1	T	C	6: 5,177,412 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,966 (GRCm39)	I3932T	probably damaging	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Sipa1	T	A	19: 5,701,985 (GRCm39)	Q947L	probably benign	Het
Slit2	G	T	5: 48,407,215 (GRCm39)	C882F	probably damaging	Het
Speer4a1	A	T	5: 26,244,341 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,034,676 (GRCm39)	D1035G	probably null	Het
Tas2r140	T	C	6: 133,032,207 (GRCm39)	T184A	possibly damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Tmem161b	T	C	13: 84,405,921 (GRCm39)	I50T	probably benign	Het
Tnpo3	T	C	6: 29,561,397 (GRCm39)	N628D	probably benign	Het
Tnrc6a	A	G	7: 122,779,005 (GRCm39)	T102A	probably benign	Het
Vmn2r70	A	T	7: 85,208,787 (GRCm39)	N563K	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
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
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
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'- GCGCCACTTTGACTCAAAC -3'
(R):5'- CCTGCTGCTTCATATTGCTAGG -3'

Sequencing Primer
(F):5'- CGCCACTTTGACTCAAACTTTAAAGG -3'
(R):5'- AGTCTCAGACCATCCCCTGTG -3'

Posted On

2015-08-18