Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01876:Aoc1l3'

178910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aoc1l3

Ensembl Gene

ENSMUSG00000039215

Gene Name

amine oxidase copper containing 1-like 3

Synonyms

SVS I, Svs1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01876

Quality Score

Status

Chromosome

Chromosomal Location

48963795-48968656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48966970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 639 (R639S)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037696]

AlphaFold

Q6WIZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037696
AA Change: R639S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: R639S

Domain	Start	End	E-Value	Type
Pfam:Cu_amine_oxidN2	44	130	1.5e-24	PFAM
Pfam:Cu_amine_oxidN3	146	246	2.7e-16	PFAM
internal_repeat_1	286	342	7.28e-22	PROSPERO
Pfam:Cu_amine_oxid	408	811	2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203494

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	T	C	13: 63,338,336 (GRCm39)	S570P	probably damaging	Het
Ap3b2	T	A	7: 81,123,602 (GRCm39)		probably null	Het
Api5	A	G	2: 94,249,299 (GRCm39)		probably benign	Het
Arhgap1	A	G	2: 91,480,564 (GRCm39)		probably null	Het
Cip2a	T	C	16: 48,822,041 (GRCm39)	V223A	probably damaging	Het
Cldn6	G	T	17: 23,900,158 (GRCm39)	V41F	probably damaging	Het
Dctn1	G	T	6: 83,174,903 (GRCm39)	V1032L	probably damaging	Het
Eef2	T	A	10: 81,016,104 (GRCm39)	F488L	probably benign	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Hnrnpc	T	C	14: 52,319,330 (GRCm39)	N91S	probably null	Het
Magel2	T	C	7: 62,028,575 (GRCm39)	V493A	possibly damaging	Het
Odr4	G	T	1: 150,258,089 (GRCm39)	T182N	probably benign	Het
Or4c117	A	T	2: 88,956,081 (GRCm39)		probably null	Het
Or5ac17	A	G	16: 59,036,382 (GRCm39)	V198A	possibly damaging	Het
Pcnx2	G	T	8: 126,592,770 (GRCm39)	S731R	probably benign	Het
Plekhm1	A	G	11: 103,267,577 (GRCm39)	L798P	probably damaging	Het
Prkd1	T	C	12: 50,413,131 (GRCm39)	E680G	probably damaging	Het
Rabggta	T	C	14: 55,956,128 (GRCm39)	T140A	probably damaging	Het
Slc2a1	G	A	4: 118,990,575 (GRCm39)	D236N	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sptlc1	C	A	13: 53,528,048 (GRCm39)	V39F	probably benign	Het
Vmn1r6	A	G	6: 56,979,446 (GRCm39)	K36R	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdpcp	T	A	11: 21,763,383 (GRCm39)	D581E	possibly damaging	Het

Other mutations in Aoc1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Aoc1l3	APN	6	48,964,673 (GRCm39)	missense	probably damaging	0.98
IGL01934:Aoc1l3	APN	6	48,965,695 (GRCm39)	missense	probably damaging	0.97
IGL03002:Aoc1l3	APN	6	48,964,052 (GRCm39)	missense	probably benign	0.01
IGL03059:Aoc1l3	APN	6	48,964,349 (GRCm39)	missense	probably benign	0.13
IGL03213:Aoc1l3	APN	6	48,965,279 (GRCm39)	missense	possibly damaging	0.92
IGL03249:Aoc1l3	APN	6	48,965,303 (GRCm39)	missense	probably benign
IGL03365:Aoc1l3	APN	6	48,965,531 (GRCm39)	missense	probably damaging	0.97
PIT4280001:Aoc1l3	UTSW	6	48,964,054 (GRCm39)	missense	probably benign	0.01
PIT4495001:Aoc1l3	UTSW	6	48,964,710 (GRCm39)	missense	possibly damaging	0.92
R0010:Aoc1l3	UTSW	6	48,965,840 (GRCm39)	missense	probably damaging	0.99
R0528:Aoc1l3	UTSW	6	48,964,965 (GRCm39)	missense	probably benign
R0784:Aoc1l3	UTSW	6	48,964,235 (GRCm39)	missense	possibly damaging	0.78
R0959:Aoc1l3	UTSW	6	48,965,566 (GRCm39)	missense	possibly damaging	0.89
R1173:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1174:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1175:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1940:Aoc1l3	UTSW	6	48,967,007 (GRCm39)	nonsense	probably null
R3115:Aoc1l3	UTSW	6	48,964,331 (GRCm39)	missense	probably damaging	0.99
R3116:Aoc1l3	UTSW	6	48,964,331 (GRCm39)	missense	probably damaging	0.99
R3808:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R3809:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R3852:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R4455:Aoc1l3	UTSW	6	48,964,394 (GRCm39)	missense	possibly damaging	0.56
R4898:Aoc1l3	UTSW	6	48,964,651 (GRCm39)	missense	possibly damaging	0.95
R4933:Aoc1l3	UTSW	6	48,964,426 (GRCm39)	missense	probably damaging	1.00
R5108:Aoc1l3	UTSW	6	48,965,504 (GRCm39)	missense	probably damaging	0.97
R5320:Aoc1l3	UTSW	6	48,964,509 (GRCm39)	missense	probably benign	0.02
R6053:Aoc1l3	UTSW	6	48,965,422 (GRCm39)	missense	probably benign	0.42
R6728:Aoc1l3	UTSW	6	48,965,779 (GRCm39)	missense	possibly damaging	0.86
R6922:Aoc1l3	UTSW	6	48,964,508 (GRCm39)	missense	probably damaging	0.99
R7045:Aoc1l3	UTSW	6	48,965,546 (GRCm39)	missense	possibly damaging	0.81
R7046:Aoc1l3	UTSW	6	48,964,512 (GRCm39)	missense	probably benign	0.11
R7137:Aoc1l3	UTSW	6	48,967,083 (GRCm39)	missense	probably damaging	1.00
R7267:Aoc1l3	UTSW	6	48,964,952 (GRCm39)	small deletion	probably benign
R7874:Aoc1l3	UTSW	6	48,965,600 (GRCm39)	missense	possibly damaging	0.91
R7993:Aoc1l3	UTSW	6	48,964,542 (GRCm39)	missense	possibly damaging	0.85
R8238:Aoc1l3	UTSW	6	48,966,975 (GRCm39)	missense	probably damaging	0.96
R8807:Aoc1l3	UTSW	6	48,965,188 (GRCm39)	missense	probably benign	0.30
R9036:Aoc1l3	UTSW	6	48,965,074 (GRCm39)	small deletion	probably benign
R9070:Aoc1l3	UTSW	6	48,965,329 (GRCm39)	missense	possibly damaging	0.80
R9350:Aoc1l3	UTSW	6	48,965,260 (GRCm39)	missense	probably damaging	1.00
R9451:Aoc1l3	UTSW	6	48,965,774 (GRCm39)	missense	probably damaging	1.00
R9498:Aoc1l3	UTSW	6	48,964,952 (GRCm39)	small deletion	probably benign
X0022:Aoc1l3	UTSW	6	48,965,273 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07