Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Atg3'

565609

Institutional Source

Beutler Lab

Gene Symbol

Atg3

Ensembl Gene

ENSMUSG00000022663

Gene Name

autophagy related 3

Synonyms

2610016C12Rik, Apg3l, PC3-96, APG3

MMRRC Submission

045359-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44979192-45008901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44982805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 37 (E37K)

Ref Sequence

ENSEMBL: ENSMUSP00000023343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023343] [ENSMUST00000023344] [ENSMUST00000114600] [ENSMUST00000180636] [ENSMUST00000181177] [ENSMUST00000181750]

AlphaFold

Q9CPX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023343
AA Change: E37K

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: E37K

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

probably benign
Transcript: ENSMUST00000023344

SMART Domains

Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	28	387	1.3e-54	PFAM
low complexity region	424	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114600

SMART Domains

Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Nuc_sug_transp	107	155	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180636

SMART Domains

Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:UAA	30	196	5.2e-8	PFAM
Pfam:TPT	31	177	3.3e-7	PFAM
Pfam:EamA	73	179	1.2e-7	PFAM
Pfam:Nuc_sug_transp	91	222	7.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181177

SMART Domains

Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	30	94	1.1e-12	PFAM
low complexity region	139	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181750

SMART Domains

Protein: ENSMUSP00000137937
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
transmembrane domain	15	36	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,283,660 (GRCm39)	V562E	probably damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hcn2	T	A	10: 79,564,934 (GRCm39)	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nasp	A	G	4: 116,471,546 (GRCm39)	S94P	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Nsun7	A	G	5: 66,434,484 (GRCm39)	D275G	probably benign	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Or52e8	T	A	7: 104,624,857 (GRCm39)	M116L	possibly damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	probably benign	Het

Other mutations in Atg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Atg3	APN	16	45,004,174 (GRCm39)	critical splice donor site	probably null
IGL01298:Atg3	APN	16	44,992,036 (GRCm39)	missense	possibly damaging	0.78
IGL02285:Atg3	APN	16	44,998,680 (GRCm39)	splice site	probably benign
IGL02626:Atg3	APN	16	45,004,048 (GRCm39)	missense	probably benign	0.04
R1494:Atg3	UTSW	16	44,992,123 (GRCm39)	splice site	probably benign
R3625:Atg3	UTSW	16	44,995,624 (GRCm39)	missense	probably benign	0.07
R3743:Atg3	UTSW	16	44,998,591 (GRCm39)	critical splice acceptor site	probably null
R5047:Atg3	UTSW	16	44,998,595 (GRCm39)	missense	probably benign	0.00
R5235:Atg3	UTSW	16	44,979,520 (GRCm39)	missense	probably benign	0.15
R6696:Atg3	UTSW	16	44,995,644 (GRCm39)	missense	possibly damaging	0.93
R8072:Atg3	UTSW	16	45,008,048 (GRCm39)	missense	probably damaging	1.00
R8501:Atg3	UTSW	16	45,003,294 (GRCm39)	missense	probably damaging	1.00
R9117:Atg3	UTSW	16	45,006,564 (GRCm39)	missense	probably damaging	0.96
R9297:Atg3	UTSW	16	44,987,371 (GRCm39)	missense	possibly damaging	0.90
R9482:Atg3	UTSW	16	44,979,481 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGTTTGTCTCTGTTAGCAAG -3'
(R):5'- ATCTGCTAAGGGAAGTAGGAATTCTC -3'

Sequencing Primer
(F):5'- GTCTCTGTTAGCAAGGACTAGTG -3'
(R):5'- AGGGAAGTAGGAATTCTCTTAACC -3'

Posted On

2019-06-26