Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Aoc1'

158646

Institutional Source

Beutler Lab

Gene Symbol

Aoc1

Ensembl Gene

ENSMUSG00000029811

Gene Name

amine oxidase, copper-containing 1

Synonyms

Abp1, 1600012D06Rik

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48872896-48909188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48905445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 107 (K107M)

Ref Sequence

ENSEMBL: ENSMUSP00000144764 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031835
AA Change: K85M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: K85M

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

possibly damaging
Transcript: ENSMUST00000162948
AA Change: K85M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: K85M

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

possibly damaging
Transcript: ENSMUST00000167529
AA Change: K85M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: K85M

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

possibly damaging
Transcript: ENSMUST00000204856
AA Change: K107M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: K107M

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: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
C7	T	C	15: 5,059,419	I13M	probably benign	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,777,971	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mtmr7	A	G	8: 40,560,882	S212P	probably damaging	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Synj2	A	G	17: 6,023,665	K245E	probably damaging	Het
Tmem131	G	A	1: 36,825,478	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	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
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
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
R9570:Aoc1	UTSW	6	48905838	missense	probably damaging	1.00
X0066:Aoc1	UTSW	6	48908252	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCTGTGACGACTCCTCATGAC -3'
(R):5'- GATAAGCCAGCTTCTACGCTGACC -3'

Sequencing Primer
(F):5'- TGACGACTCCTCATGACAAAGC -3'
(R):5'- TAGAGGAGGTCATACTCCGCTG -3'

Posted On

2014-03-14