Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03249:Aoc1l3'

414511

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 #

IGL03249

Quality Score

Status

Chromosome

Chromosomal Location

48963795-48968656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48965303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 437 (H437L)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

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

AlphaFold

Q6WIZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000037696
AA Change: H437L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: H437L

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,149 (GRCm39)	Y18C	probably damaging	Het
Abcc4	A	G	14: 118,865,118 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,381,787 (GRCm39)	K202E	probably benign	Het
Arid2	A	T	15: 96,299,846 (GRCm39)	R1786S	probably damaging	Het
Atp2a1	C	T	7: 126,061,977 (GRCm39)	E40K	probably benign	Het
Cdc23	A	G	18: 34,777,069 (GRCm39)		probably benign	Het
Ctnnd2	A	G	15: 30,683,382 (GRCm39)	D461G	probably benign	Het
Galntl6	G	T	8: 58,230,210 (GRCm39)		probably benign	Het
Gcc2	T	A	10: 58,106,814 (GRCm39)	Y583*	probably null	Het
Or11g7	T	C	14: 50,690,668 (GRCm39)	V53A	probably damaging	Het
Plekhg2	C	A	7: 28,067,427 (GRCm39)	R281L	probably damaging	Het
Rbm27	A	G	18: 42,434,812 (GRCm39)	D292G	probably damaging	Het
Ryr3	A	T	2: 112,471,001 (GRCm39)	M4594K	probably benign	Het
Sec22a	T	C	16: 35,168,133 (GRCm39)	Y126C	probably damaging	Het
Svopl	T	C	6: 37,993,988 (GRCm39)	T348A	probably benign	Het
Tecta	T	C	9: 42,303,182 (GRCm39)	E150G	probably benign	Het
Ttc8	T	G	12: 98,910,080 (GRCm39)		probably benign	Het
Zfp51	T	A	17: 21,683,701 (GRCm39)	N105K	probably 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
IGL01876:Aoc1l3	APN	6	48,966,970 (GRCm39)	missense	possibly damaging	0.71
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
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

2016-08-02