Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01298:Atg3'

73214

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg3

Ensembl Gene

ENSMUSG00000022663

Gene Name

autophagy related 3

Synonyms

PC3-96, 2610016C12Rik, Apg3l, APG3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

45158785-45188538 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45171673 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 88 (M88T)

Ref Sequence

ENSEMBL: ENSMUSP00000023343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023343]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023343
AA Change: M88T

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: M88T

Domain	Start	End	E-Value	Type
Pfam:Autophagy_N	8	153	1.4e-55	PFAM
Pfam:Autophagy_act_C	204	265	8.8e-23	PFAM
Pfam:Autophagy_C	286	310	2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150390

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit decreased autophagy, decreased T cell proliferation, and increased T cell apoptosis. Mice homozygous for a knock-out allele exhibit decreased birth weight, neonatal lethality and abnormal autophagy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Atg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Atg3	APN	16	45183811	critical splice donor site	probably null
IGL02285:Atg3	APN	16	45178317	splice site	probably benign
IGL02626:Atg3	APN	16	45183685	missense	probably benign	0.04
R1494:Atg3	UTSW	16	45171760	splice site	probably benign
R3625:Atg3	UTSW	16	45175261	missense	probably benign	0.07
R3743:Atg3	UTSW	16	45178228	critical splice acceptor site	probably null
R5047:Atg3	UTSW	16	45178232	missense	probably benign	0.00
R5235:Atg3	UTSW	16	45159157	missense	probably benign	0.15
R6696:Atg3	UTSW	16	45175281	missense	possibly damaging	0.93
R7276:Atg3	UTSW	16	45162442	missense	possibly damaging	0.70
R8072:Atg3	UTSW	16	45187685	missense	probably damaging	1.00
R8501:Atg3	UTSW	16	45182931	missense	probably damaging	1.00

Posted On

2013-10-07