Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Atg10'

410337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg10

Ensembl Gene

ENSMUSG00000021619

Gene Name

autophagy related 10

Synonyms

APG10, Apg10l, 5430428K15Rik, 5330424L23Rik, Apg10p

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

91083475-91372087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91085412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 179 (R179I)

Ref Sequence

ENSEMBL: ENSMUSP00000022119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022119] [ENSMUST00000224449]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000022119
AA Change: R179I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022119
Gene: ENSMUSG00000021619
AA Change: R179I

Domain	Start	End	E-Value	Type
Pfam:Autophagy_act_C	95	162	9.1e-19	PFAM
low complexity region	188	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223729

Predicted Effect

probably benign
Transcript: ENSMUST00000224449

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	probably damaging	Het

Other mutations in Atg10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Atg10	APN	13	91,302,330 (GRCm39)	splice site	probably benign
R0362:Atg10	UTSW	13	91,189,109 (GRCm39)	critical splice acceptor site	probably null
R0826:Atg10	UTSW	13	91,084,705 (GRCm39)	critical splice donor site	probably null
R1593:Atg10	UTSW	13	91,302,380 (GRCm39)	missense	probably benign	0.02
R2918:Atg10	UTSW	13	91,189,027 (GRCm39)	missense	probably damaging	1.00
R3012:Atg10	UTSW	13	91,302,397 (GRCm39)	missense	probably damaging	0.99
R3036:Atg10	UTSW	13	91,189,017 (GRCm39)	missense	probably damaging	1.00
R3837:Atg10	UTSW	13	91,085,499 (GRCm39)	missense	probably damaging	1.00
R3838:Atg10	UTSW	13	91,085,499 (GRCm39)	missense	probably damaging	1.00
R3839:Atg10	UTSW	13	91,085,499 (GRCm39)	missense	probably damaging	1.00
R4324:Atg10	UTSW	13	91,189,085 (GRCm39)	missense	probably damaging	1.00
R6195:Atg10	UTSW	13	91,356,555 (GRCm39)	splice site	probably null
R6478:Atg10	UTSW	13	91,085,466 (GRCm39)	missense	probably damaging	1.00
R8287:Atg10	UTSW	13	91,170,799 (GRCm39)	splice site	probably benign
R9036:Atg10	UTSW	13	91,189,071 (GRCm39)	missense	probably benign	0.07
R9151:Atg10	UTSW	13	91,189,032 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02