Mutagenetix > Incidental Mutation

Incidental Mutation 'R1723:Aoc3'

191624

Institutional Source

Beutler Lab

Gene Symbol

Aoc3

Ensembl Gene

ENSMUSG00000019326

Gene Name

amine oxidase, copper containing 3

Synonyms

semicarbazide-sensitive amine oxidase, SSAO, VAP1

MMRRC Submission

039755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101221432-101230256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101227261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 378 (V378E)

Ref Sequence

ENSEMBL: ENSMUSP00000017316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000103105]

AlphaFold

O70423

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017316
AA Change: V378E

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: V378E

Domain	Start	End	E-Value	Type
Pfam:Cu_amine_oxidN2	23	109	4.3e-24	PFAM
Pfam:Cu_amine_oxidN3	126	226	1.4e-28	PFAM
Pfam:Cu_amine_oxid	251	444	4.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103105
AA Change: V658E

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: V658E

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	66	152	1.7e-29	PFAM
Pfam:Cu_amine_oxidN3	169	269	1.5e-31	PFAM
low complexity region	284	298	N/A	INTRINSIC
Pfam:Cu_amine_oxid	314	721	5.3e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187880

Meta Mutation Damage Score

0.9317

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice display decreased lymphocyte migration and homing in response to inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,605,735 (GRCm39)	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,937,406 (GRCm39)	E464G	probably damaging	Het
Atp13a5	T	A	16: 29,051,551 (GRCm39)	K1152I	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Calcoco1	C	A	15: 102,627,988 (GRCm39)	G49C	probably damaging	Het
Cd70	T	C	17: 57,453,401 (GRCm39)	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,085,974 (GRCm39)	R56Q	probably benign	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,364,127 (GRCm39)	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,082,143 (GRCm39)	D190G	probably benign	Het
Exoc6b	A	G	6: 85,046,326 (GRCm39)	L21P	probably damaging	Het
Fam110c	A	G	12: 31,124,394 (GRCm39)	R119G	unknown	Het
Gask1b	T	A	3: 79,843,970 (GRCm39)	N32K	probably benign	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Hpcal4	A	G	4: 123,084,532 (GRCm39)	I154V	probably benign	Het
Itgb1	A	G	8: 129,452,519 (GRCm39)	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753 (GRCm39)	D701V	probably damaging	Het
Kif18a	A	G	2: 109,133,227 (GRCm39)	K448E	probably damaging	Het
Kif26a	T	C	12: 112,140,292 (GRCm39)	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,630,276 (GRCm39)		probably benign	Het
Map3k20	T	C	2: 72,219,836 (GRCm39)	I256T	probably damaging	Het
Med29	T	A	7: 28,092,130 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 34,954,026 (GRCm39)	C215R	probably damaging	Het
Mtf2	T	C	5: 108,235,936 (GRCm39)	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,744,140 (GRCm39)	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,748,903 (GRCm39)	D779V	probably damaging	Het
Or51q1c	T	C	7: 103,652,518 (GRCm39)	F18S	probably damaging	Het
Otud3	T	C	4: 138,625,329 (GRCm39)	T242A	probably damaging	Het
Pcare	A	T	17: 72,057,373 (GRCm39)	F768Y	probably damaging	Het
Pnliprp1	T	A	19: 58,720,574 (GRCm39)	M150K	possibly damaging	Het
Polm	T	A	11: 5,784,776 (GRCm39)	Q227L	probably benign	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppfia2	T	A	10: 106,751,533 (GRCm39)		probably null	Het
Rad51	T	G	2: 118,954,295 (GRCm39)	M168R	probably benign	Het
Senp2	A	G	16: 21,846,792 (GRCm39)	T266A	probably benign	Het
Sfswap	A	G	5: 129,616,758 (GRCm39)	T401A	probably benign	Het
Slc35a4	C	A	18: 36,815,788 (GRCm39)	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,963,921 (GRCm39)	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,295 (GRCm39)	K1217R	probably damaging	Het
St18	A	C	1: 6,880,909 (GRCm39)		probably benign	Het
Tdrd6	T	C	17: 43,939,218 (GRCm39)	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,479,108 (GRCm39)	R137L	probably damaging	Het
Tmem94	T	A	11: 115,685,574 (GRCm39)	D942E	probably damaging	Het
Ttn	T	A	2: 76,580,754 (GRCm39)	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,212,393 (GRCm39)		probably null	Het
Vav2	T	C	2: 27,208,976 (GRCm39)	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Zbtb41	A	T	1: 139,351,301 (GRCm39)	Q138L	probably benign	Het
Zfp599	T	C	9: 22,169,361 (GRCm39)	Y37C	probably damaging	Het
Zfp784	T	A	7: 5,038,782 (GRCm39)	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,118,837 (GRCm39)	S236G	probably benign	Het
Zng1	A	G	19: 24,925,458 (GRCm39)	V166A	possibly damaging	Het

Other mutations in Aoc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Aoc3	APN	11	101,228,304 (GRCm39)	missense	possibly damaging	0.73
IGL02026:Aoc3	APN	11	101,228,421 (GRCm39)	missense	probably benign
IGL02500:Aoc3	APN	11	101,228,215 (GRCm39)	nonsense	probably null
R0463:Aoc3	UTSW	11	101,222,432 (GRCm39)	missense	probably damaging	1.00
R0524:Aoc3	UTSW	11	101,228,337 (GRCm39)	missense	probably damaging	1.00
R0538:Aoc3	UTSW	11	101,222,964 (GRCm39)	missense	possibly damaging	0.77
R0685:Aoc3	UTSW	11	101,227,273 (GRCm39)	missense	possibly damaging	0.84
R0740:Aoc3	UTSW	11	101,223,158 (GRCm39)	missense	probably benign	0.01
R0946:Aoc3	UTSW	11	101,223,131 (GRCm39)	missense	possibly damaging	0.89
R1869:Aoc3	UTSW	11	101,222,293 (GRCm39)	nonsense	probably null
R3735:Aoc3	UTSW	11	101,223,045 (GRCm39)	missense	probably damaging	0.99
R4497:Aoc3	UTSW	11	101,222,871 (GRCm39)	missense	possibly damaging	0.70
R4613:Aoc3	UTSW	11	101,228,485 (GRCm39)	intron	probably benign
R4858:Aoc3	UTSW	11	101,222,488 (GRCm39)	missense	probably damaging	1.00
R4954:Aoc3	UTSW	11	101,222,925 (GRCm39)	missense	probably damaging	1.00
R4976:Aoc3	UTSW	11	101,221,800 (GRCm39)	missense	probably damaging	1.00
R5770:Aoc3	UTSW	11	101,222,578 (GRCm39)	nonsense	probably null
R6679:Aoc3	UTSW	11	101,222,279 (GRCm39)	missense	probably damaging	1.00
R7485:Aoc3	UTSW	11	101,228,229 (GRCm39)	missense	probably damaging	1.00
R7693:Aoc3	UTSW	11	101,223,338 (GRCm39)	missense	probably benign	0.00
R7888:Aoc3	UTSW	11	101,223,323 (GRCm39)	missense	probably damaging	1.00
R8041:Aoc3	UTSW	11	101,223,132 (GRCm39)	missense	probably benign	0.00
R8444:Aoc3	UTSW	11	101,232,573 (GRCm39)	missense	unknown
R8491:Aoc3	UTSW	11	101,223,042 (GRCm39)	missense	probably benign	0.41
R8685:Aoc3	UTSW	11	101,223,042 (GRCm39)	missense	probably benign	0.00
R8732:Aoc3	UTSW	11	101,222,643 (GRCm39)	missense	probably benign	0.00
R9660:Aoc3	UTSW	11	101,221,914 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TCAGAGCATTTAGCCTGCTTCCATC -3'
(R):5'- TAGAACACTGGTTCCCAGCCCAAG -3'

Sequencing Primer
(F):5'- TTCCATCATGCAGCTTAGAGAC -3'
(R):5'- atggttggggggggtgg -3'

Posted On

2014-05-14