Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Atg3'

692620

Institutional Source

Beutler Lab

Gene Symbol

Atg3

Ensembl Gene

ENSMUSG00000022663

Gene Name

autophagy related 3

Synonyms

2610016C12Rik, Apg3l, PC3-96, APG3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44979192-45008901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45006564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 277 (V277A)

Ref Sequence

ENSEMBL: ENSMUSP00000023343 (fasta)

Gene Model

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

AlphaFold

Q9CPX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023343
AA Change: V277A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: V277A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Akap5	T	A	12: 76,374,592 (GRCm39)	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Ccr7	A	G	11: 99,036,086 (GRCm39)	Y279H	probably damaging	Het
Cfap210	G	T	2: 69,612,103 (GRCm39)	S175*	probably null	Het
Clint1	A	G	11: 45,781,562 (GRCm39)	T211A	probably damaging	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Raly	T	A	2: 154,703,785 (GRCm39)	S119T	probably damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	probably damaging	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
R7276:Atg3	UTSW	16	44,982,805 (GRCm39)	missense	possibly damaging	0.70
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
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'- TCATAGCTCAGCAGTTGACAG -3'
(R):5'- AACCACTGAGTGCAGCATAC -3'

Sequencing Primer
(F):5'- GCTCAGCAGTTGACAGCATTTTATAG -3'
(R):5'- AACCACTGAGTGCAGCATACTTTTC -3'

Posted On

2021-12-30