Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Aoc3'

727536

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

Accession Numbers

Essential gene?

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

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101221432-101230256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 101221914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 50 (P50R)

Ref Sequence

ENSEMBL: ENSMUSP00000099394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]

AlphaFold

O70423

Predicted Effect

probably damaging
Transcript: ENSMUST00000017316
AA Change: P7R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: P7R

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: ENSMUST00000041095

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651

Domain	Start	End	E-Value	Type
transmembrane domain	5	26	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	62	148	1.7e-29	PFAM
Pfam:Cu_amine_oxidN3	165	263	5.7e-22	PFAM
Pfam:Cu_amine_oxid	309	718	3.7e-110	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103105
AA Change: P50R

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: P50R

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

probably benign
Transcript: ENSMUST00000107264

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651

Domain	Start	End	E-Value	Type
transmembrane domain	5	26	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	62	148	8.2e-24	PFAM
Pfam:Cu_amine_oxidN3	165	263	9.9e-20	PFAM
Pfam:Cu_amine_oxid	308	605	5.9e-86	PFAM
Pfam:Cu_amine_oxid	600	694	7.3e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTAGAAGCCTGTCCATCAAGAAG -3'
(R):5'- CAATGCCTCTCTCACAGGTG -3'

Sequencing Primer
(F):5'- GCCTGTCCATCAAGAAGCAATG -3'
(R):5'- TCTGTCCAAGTGGGCCAG -3'

Posted On

2022-10-06