Mutagenetix > Incidental Mutation

Incidental Mutation 'R8444:Aoc3'

654398

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

067826-MU

Accession Numbers

Essential gene?

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

Stock #

R8444 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

101221432-101230256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101232573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 466 (R466S)

Ref Sequence

ENSEMBL: ENSMUSP00000017316 (fasta)

Gene Model

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

AlphaFold

O70423

Predicted Effect

unknown
Transcript: ENSMUST00000017316
AA Change: R466S

SMART Domains

Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: R466S

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

SMART Domains

Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,127,755 (GRCm39)	R56S	possibly damaging	Het
Abca14	T	A	7: 119,918,133 (GRCm39)	I1545K	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,058,839 (GRCm39)	V535A	probably benign	Het
Adcy9	T	C	16: 4,106,487 (GRCm39)	T1113A	probably damaging	Het
Afdn	A	T	17: 14,104,062 (GRCm39)	N1133Y	probably benign	Het
Aip	T	A	19: 4,166,034 (GRCm39)	D139V	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	G	A	7: 44,799,115 (GRCm39)	P56S	probably benign	Het
Alpk3	A	C	7: 80,707,468 (GRCm39)	T31P	probably benign	Het
Atoh1	T	C	6: 64,706,641 (GRCm39)	L112P	probably benign	Het
Atp2b2	T	A	6: 113,770,772 (GRCm39)	N424I	probably benign	Het
Brms1	T	C	19: 5,091,520 (GRCm39)		probably null	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd34	T	A	1: 194,640,808 (GRCm39)	S224R	probably benign	Het
Cdh20	T	A	1: 104,898,583 (GRCm39)	F437I	probably benign	Het
Cdkal1	A	T	13: 29,510,087 (GRCm39)	V557E	probably benign	Het
Cfap276	A	G	3: 108,451,384 (GRCm39)	H115R	probably benign	Het
Chst5	T	C	8: 112,617,395 (GRCm39)	H75R	probably damaging	Het
Col5a2	A	T	1: 45,435,305 (GRCm39)	N713K	probably benign	Het
Cpne5	A	T	17: 29,407,357 (GRCm39)	M181K	probably benign	Het
Cpt1a	T	C	19: 3,431,981 (GRCm39)	F731S	probably benign	Het
Cyfip1	A	G	7: 55,521,902 (GRCm39)	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,442,672 (GRCm39)	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,181,259 (GRCm39)	H805L	probably benign	Het
Dnm1l	C	T	16: 16,158,906 (GRCm39)	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,222,636 (GRCm39)	D612V	probably benign	Het
Ephb2	C	T	4: 136,388,711 (GRCm39)	G628R	probably damaging	Het
Esrrb	G	A	12: 86,552,595 (GRCm39)	R195H	probably benign	Het
Flg2	A	T	3: 93,107,585 (GRCm39)	E23D	probably damaging	Het
Gja8	A	G	3: 96,826,990 (GRCm39)	L224P	probably damaging	Het
Hps6	T	G	19: 45,993,867 (GRCm39)	S601R	possibly damaging	Het
Ice1	T	C	13: 70,752,495 (GRCm39)	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,200,857 (GRCm39)	A366D	possibly damaging	Het
Ighm	A	C	12: 113,384,813 (GRCm39)	S347A		Het
Immt	C	T	6: 71,848,492 (GRCm39)	R494*	probably null	Het
Irs2	A	G	8: 11,056,683 (GRCm39)	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,903,508 (GRCm39)	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245 (GRCm39)	I716F	probably benign	Het
Klhl1	T	A	14: 96,755,326 (GRCm39)	D143V	probably benign	Het
Lrp1b	T	C	2: 40,760,272 (GRCm39)	T2999A		Het
Map3k9	A	G	12: 81,768,970 (GRCm39)	L1026P	probably damaging	Het
Mtg1	T	C	7: 139,718,283 (GRCm39)	V54A	probably damaging	Het
Mx1	G	T	16: 97,252,687 (GRCm39)	C231*	probably null	Het
Odad4	G	T	11: 100,452,731 (GRCm39)		probably null	Het
Or10ag59	G	A	2: 87,406,083 (GRCm39)	M218I	probably benign	Het
Or56a41	A	G	7: 104,740,165 (GRCm39)	V227A	probably damaging	Het
Or5p6	C	A	7: 107,631,070 (GRCm39)	W160L	probably benign	Het
Or5p79	A	G	7: 108,221,027 (GRCm39)	I3V	probably benign	Het
Or6c65	T	A	10: 129,603,794 (GRCm39)	V143E	probably damaging	Het
Otogl	T	A	10: 107,692,975 (GRCm39)	E836D	probably benign	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,177,327 (GRCm39)	W194*	probably null	Het
Rbm25	T	A	12: 83,711,025 (GRCm39)	S379R	unknown	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Shoc2	A	G	19: 53,976,503 (GRCm39)	Y131C	probably damaging	Het
Slc23a1	T	A	18: 35,757,489 (GRCm39)	M261L	possibly damaging	Het
Slc34a1	A	T	13: 24,003,061 (GRCm39)	H237L	probably benign	Het
Slc35d1	G	C	4: 103,071,896 (GRCm39)	I35M		Het
Slc8b1	C	T	5: 120,651,203 (GRCm39)		probably benign	Het
Smr3a	A	C	5: 88,152,611 (GRCm39)	L8F	unknown	Het
Snx8	G	A	5: 140,343,929 (GRCm39)	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,752,509 (GRCm39)	V325A	possibly damaging	Het
Stk40	A	G	4: 126,012,127 (GRCm39)	T10A	probably benign	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Trim6	G	A	7: 103,881,879 (GRCm39)	V403M	probably damaging	Het
Tysnd1	A	G	10: 61,531,950 (GRCm39)	R201G	probably benign	Het
Vmn2r67	A	T	7: 84,785,854 (GRCm39)	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,387,383 (GRCm39)	V727A	probably benign	Het
Wdr49	A	C	3: 75,358,997 (GRCm39)	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,326,424 (GRCm39)	V247A	probably benign	Het
Zfp532	C	A	18: 65,757,330 (GRCm39)	A421E	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
R1723:Aoc3	UTSW	11	101,227,261 (GRCm39)	missense	possibly damaging	0.82
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
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'- GAGCTTTAGGATGGAGGCC -3'
(R):5'- TCTGTGAAACTCTTTACTGCAAG -3'

Sequencing Primer
(F):5'- CCATGGAGGGATACTACTTACTGAC -3'
(R):5'- GTCTGGAACTGAACTTGG -3'

Posted On

2020-10-20