Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Aoc3'

218484

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

038870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0685 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

101330605-101341938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101336447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 382 (D382G)

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: D382G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: D382G

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: D662G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: D662G

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

0.2303

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438 (GRCm38)	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953 (GRCm38)	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035 (GRCm38)	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450 (GRCm38)		probably benign	Het
Apob	C	A	12: 8,010,742 (GRCm38)	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977 (GRCm38)	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643 (GRCm38)	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919 (GRCm38)	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267 (GRCm38)	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471 (GRCm38)	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542 (GRCm38)		probably null	Het
Clstn1	G	A	4: 149,646,855 (GRCm38)	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546 (GRCm38)	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192 (GRCm38)	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277 (GRCm38)	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178 (GRCm38)	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521 (GRCm38)	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318 (GRCm38)		probably benign	Het
Gm884	T	C	11: 103,616,888 (GRCm38)		probably benign	Het
Gm9955	G	T	18: 24,709,257 (GRCm38)		probably benign	Het
Gstm5	T	A	3: 107,897,319 (GRCm38)	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702 (GRCm38)		probably benign	Het
Hectd2	T	A	19: 36,569,431 (GRCm38)	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559 (GRCm38)	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559 (GRCm38)		probably benign	Het
Iqca	C	A	1: 90,142,731 (GRCm38)	G133V	probably null	Het
Kiz	C	A	2: 146,856,058 (GRCm38)		probably benign	Het
Lcmt2	C	A	2: 121,139,240 (GRCm38)	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957 (GRCm38)		probably benign	Het
Lin37	T	C	7: 30,555,874 (GRCm38)	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814 (GRCm38)		probably null	Het
Mctp1	T	C	13: 76,825,799 (GRCm38)		probably null	Het
Mdp1	C	A	14: 55,659,269 (GRCm38)	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134 (GRCm38)	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397 (GRCm38)		probably null	Het
Muc5ac	T	C	7: 141,807,709 (GRCm38)	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772 (GRCm38)	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855 (GRCm38)	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418 (GRCm38)	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263 (GRCm38)	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154 (GRCm38)	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093 (GRCm38)	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612 (GRCm38)	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413 (GRCm38)	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572 (GRCm38)	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991 (GRCm38)	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820 (GRCm38)	S132*	probably null	Het
Psme4	A	G	11: 30,878,415 (GRCm38)	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482 (GRCm38)		probably benign	Het
Reep3	A	G	10: 67,021,739 (GRCm38)		probably benign	Het
Rexo4	A	T	2: 26,958,574 (GRCm38)		probably benign	Het
Rnf6	A	C	5: 146,211,658 (GRCm38)	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737 (GRCm38)	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499 (GRCm38)	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710 (GRCm38)	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345 (GRCm38)	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795 (GRCm38)	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820 (GRCm38)	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648 (GRCm38)	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998 (GRCm38)	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633 (GRCm38)	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181 (GRCm38)	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854 (GRCm38)	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173 (GRCm38)	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538 (GRCm38)	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003 (GRCm38)	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240 (GRCm38)	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725 (GRCm38)	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814 (GRCm38)		probably benign	Het
Uhrf1	G	T	17: 56,310,742 (GRCm38)	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278 (GRCm38)	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275 (GRCm38)	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010 (GRCm38)	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741 (GRCm38)	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638 (GRCm38)		probably benign	Het
Zcwpw1	A	G	5: 137,799,592 (GRCm38)	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476 (GRCm38)	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774 (GRCm38)	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542 (GRCm38)	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717 (GRCm38)	H232L	probably damaging	Het

Other mutations in Aoc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Aoc3	APN	11	101,337,478 (GRCm38)	missense	possibly damaging	0.73
IGL02026:Aoc3	APN	11	101,337,595 (GRCm38)	missense	probably benign
IGL02500:Aoc3	APN	11	101,337,389 (GRCm38)	nonsense	probably null
R0463:Aoc3	UTSW	11	101,331,606 (GRCm38)	missense	probably damaging	1.00
R0524:Aoc3	UTSW	11	101,337,511 (GRCm38)	missense	probably damaging	1.00
R0538:Aoc3	UTSW	11	101,332,138 (GRCm38)	missense	possibly damaging	0.77
R0740:Aoc3	UTSW	11	101,332,332 (GRCm38)	missense	probably benign	0.01
R0946:Aoc3	UTSW	11	101,332,305 (GRCm38)	missense	possibly damaging	0.89
R1723:Aoc3	UTSW	11	101,336,435 (GRCm38)	missense	possibly damaging	0.82
R1869:Aoc3	UTSW	11	101,331,467 (GRCm38)	nonsense	probably null
R3735:Aoc3	UTSW	11	101,332,219 (GRCm38)	missense	probably damaging	0.99
R4497:Aoc3	UTSW	11	101,332,045 (GRCm38)	missense	possibly damaging	0.70
R4613:Aoc3	UTSW	11	101,337,659 (GRCm38)	intron	probably benign
R4858:Aoc3	UTSW	11	101,331,662 (GRCm38)	missense	probably damaging	1.00
R4954:Aoc3	UTSW	11	101,332,099 (GRCm38)	missense	probably damaging	1.00
R4976:Aoc3	UTSW	11	101,330,974 (GRCm38)	missense	probably damaging	1.00
R5770:Aoc3	UTSW	11	101,331,752 (GRCm38)	nonsense	probably null
R6679:Aoc3	UTSW	11	101,331,453 (GRCm38)	missense	probably damaging	1.00
R7485:Aoc3	UTSW	11	101,337,403 (GRCm38)	missense	probably damaging	1.00
R7693:Aoc3	UTSW	11	101,332,512 (GRCm38)	missense	probably benign	0.00
R7888:Aoc3	UTSW	11	101,332,497 (GRCm38)	missense	probably damaging	1.00
R8041:Aoc3	UTSW	11	101,332,306 (GRCm38)	missense	probably benign	0.00
R8444:Aoc3	UTSW	11	101,341,747 (GRCm38)	missense	unknown
R8491:Aoc3	UTSW	11	101,332,216 (GRCm38)	missense	probably benign	0.41
R8685:Aoc3	UTSW	11	101,332,216 (GRCm38)	missense	probably benign	0.00
R8732:Aoc3	UTSW	11	101,331,817 (GRCm38)	missense	probably benign	0.00
R9660:Aoc3	UTSW	11	101,331,088 (GRCm38)	missense	possibly damaging	0.49

Predicted Primers

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

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

Posted On

2014-08-11