Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02323:Epg5'

288323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules autophagy protein 5 homolog (C. elegans)

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.937) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 78012832 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1740 (Y1740*)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044622]

Predicted Effect

probably null
Transcript: ENSMUST00000044622
AA Change: Y1740*

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: Y1740*

Domain	Start	End	E-Value	Type
low complexity region	299	309	N/A	INTRINSIC
low complexity region	395	406	N/A	INTRINSIC
low complexity region	1074	1085	N/A	INTRINSIC
low complexity region	1499	1516	N/A	INTRINSIC
coiled coil region	1600	1626	N/A	INTRINSIC
low complexity region	2132	2145	N/A	INTRINSIC
low complexity region	2416	2427	N/A	INTRINSIC
low complexity region	2454	2469	N/A	INTRINSIC

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 large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit dysfunctional autophagy that leads to aggregate inclusions in motor neurons, motor neuron degeneration, denervation, muscle degeneration and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,291,064	E344G	probably damaging	Het
Actrt2	T	C	4: 154,666,798	T294A	probably benign	Het
Afg1l	C	A	10: 42,454,510	E54*	probably null	Het
Ahi1	T	C	10: 20,972,034	I447T	probably damaging	Het
Akap6	T	C	12: 53,140,429	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,729,980	S103A	possibly damaging	Het
Apc	C	T	18: 34,315,810	Q1886*	probably null	Het
Bcas3	A	G	11: 85,495,845	T148A	probably damaging	Het
Bud13	A	G	9: 46,283,052	T8A	probably benign	Het
Casr	A	T	16: 36,509,710	Y421N	probably damaging	Het
Cd163l1	G	T	7: 140,228,659	A828S	probably benign	Het
Clasp2	T	C	9: 113,868,726		probably benign	Het
Clca4b	T	C	3: 144,913,321	T686A	probably benign	Het
Cntln	T	A	4: 85,049,789	H748Q	probably benign	Het
D430042O09Rik	T	A	7: 125,842,829	S637T	probably benign	Het
Dmtf1	A	T	5: 9,120,056	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 78,063,318	K117R	probably damaging	Het
Eif2a	T	C	3: 58,548,603	M341T	possibly damaging	Het
Fam149b	C	T	14: 20,363,301	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,728,871		probably null	Het
Fbxo3	T	A	2: 104,047,951	N232K	probably benign	Het
Gm5415	A	T	1: 32,545,704	L375*	probably null	Het
Gm6588	A	G	5: 112,449,734	Y49C	probably benign	Het
Gnl3	A	C	14: 31,017,402	H16Q	probably damaging	Het
Gpld1	T	G	13: 24,982,774	V669G	probably damaging	Het
Grik3	A	G	4: 125,685,990		probably benign	Het
Gzmg	A	C	14: 56,157,272	Y180D	probably benign	Het
H2-M9	A	T	17: 36,640,741	Y281N	probably damaging	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,004,957	I125F	probably damaging	Het
Nfam1	T	A	15: 83,022,951	N15I	probably benign	Het
Nol8	T	A	13: 49,655,245		probably benign	Het
Obscn	A	G	11: 59,008,522	V6483A	possibly damaging	Het
Olfr444	A	T	6: 42,955,983	I162F	probably benign	Het
Osbpl3	A	G	6: 50,346,326		probably null	Het
Pla2g16	G	A	19: 7,574,992	W24*	probably null	Het
Ppfibp2	A	T	7: 107,738,629	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,026,429	V277A	probably damaging	Het
Robo3	G	A	9: 37,422,201	A716V	probably benign	Het
Slc29a4	A	G	5: 142,717,652	E227G	probably damaging	Het
Slf1	T	C	13: 77,051,294	D656G	possibly damaging	Het
Sox1	A	G	8: 12,396,692	H111R	possibly damaging	Het
Svep1	G	A	4: 58,070,236	Q2517*	probably null	Het
Syndig1	G	T	2: 149,899,787	V98L	probably benign	Het
Synpo2	T	C	3: 123,117,534	E154G	probably benign	Het
Tex37	A	G	6: 70,913,695		probably benign	Het
Tkt	G	A	14: 30,571,035	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,993,430	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,172,009	T100S	probably damaging	Het
Traf7	C	A	17: 24,513,046	C193F	possibly damaging	Het
Trim12c	C	T	7: 104,348,266	A28T	probably benign	Het
Trpc7	C	A	13: 56,783,751	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,736,743	R575G	probably null	Het
Ttn	T	G	2: 76,851,575		probably benign	Het
Ttn	C	T	2: 76,723,265	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,250,564		probably benign	Het
Uqcrb	A	T	13: 66,902,810		probably benign	Het
Usp33	T	A	3: 152,370,387	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,596,137	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,065,851	I204F	probably damaging	Het

Other mutations in Epg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Epg5	APN	18	78012741	missense	probably damaging	1.00
IGL01778:Epg5	APN	18	78019274	missense	probably damaging	0.98
IGL01936:Epg5	APN	18	77985101	missense	probably damaging	1.00
IGL02189:Epg5	APN	18	78012870	missense	probably damaging	0.99
IGL02567:Epg5	APN	18	78033073	missense	probably damaging	1.00
IGL02805:Epg5	APN	18	78030191	splice site	probably benign
IGL03282:Epg5	APN	18	77986426	missense	probably benign	0.25
stitch	UTSW	18	77948299	nonsense	probably null
R0011:Epg5	UTSW	18	77948483	missense	probably benign
R0172:Epg5	UTSW	18	78027359	missense	probably benign	0.00
R0335:Epg5	UTSW	18	77986472	missense	probably benign	0.25
R0380:Epg5	UTSW	18	77960841	missense	probably damaging	1.00
R0441:Epg5	UTSW	18	78023271	splice site	probably benign
R0443:Epg5	UTSW	18	77955903	splice site	probably benign
R0445:Epg5	UTSW	18	78014184	missense	possibly damaging	0.87
R0448:Epg5	UTSW	18	78023365	missense	probably damaging	1.00
R0892:Epg5	UTSW	18	77968628	missense	possibly damaging	0.94
R1081:Epg5	UTSW	18	77959533	missense	possibly damaging	0.92
R1183:Epg5	UTSW	18	77960711	missense	probably damaging	1.00
R1374:Epg5	UTSW	18	77981326	missense	probably benign
R1428:Epg5	UTSW	18	77962427	missense	probably damaging	1.00
R1727:Epg5	UTSW	18	78015815	missense	possibly damaging	0.94
R1780:Epg5	UTSW	18	78023990	missense	probably damaging	0.99
R1801:Epg5	UTSW	18	77983490	missense	possibly damaging	0.63
R1864:Epg5	UTSW	18	77975031	missense	probably damaging	0.99
R1908:Epg5	UTSW	18	77959032	missense	probably benign	0.26
R1909:Epg5	UTSW	18	77959032	missense	probably benign	0.26
R1916:Epg5	UTSW	18	77965021	missense	probably benign	0.00
R1986:Epg5	UTSW	18	77982306	critical splice acceptor site	probably null
R2048:Epg5	UTSW	18	78023987	missense	probably damaging	0.98
R2080:Epg5	UTSW	18	77948745	missense	probably benign	0.01
R2106:Epg5	UTSW	18	77991363	nonsense	probably null
R2144:Epg5	UTSW	18	77954197	missense	possibly damaging	0.78
R2151:Epg5	UTSW	18	78027302	missense	probably benign
R2217:Epg5	UTSW	18	77949072	missense	probably benign
R2424:Epg5	UTSW	18	77968613	missense	probably benign	0.05
R2909:Epg5	UTSW	18	77983476	missense	probably damaging	1.00
R3725:Epg5	UTSW	18	78017679	missense	probably benign	0.00
R3899:Epg5	UTSW	18	77957510	missense	probably damaging	1.00
R4019:Epg5	UTSW	18	78030450	missense	probably damaging	0.98
R4260:Epg5	UTSW	18	78015699	missense	probably damaging	1.00
R4260:Epg5	UTSW	18	77959121	missense	possibly damaging	0.50
R4448:Epg5	UTSW	18	77962461	missense	probably damaging	1.00
R4475:Epg5	UTSW	18	77948508	missense	probably benign
R4612:Epg5	UTSW	18	77982414	missense	possibly damaging	0.77
R4666:Epg5	UTSW	18	78012864	missense	probably benign	0.45
R4767:Epg5	UTSW	18	78023283	missense	possibly damaging	0.67
R4779:Epg5	UTSW	18	77991365	missense	probably benign	0.01
R4791:Epg5	UTSW	18	77948996	nonsense	probably null
R4797:Epg5	UTSW	18	78030399	missense	probably benign	0.00
R4812:Epg5	UTSW	18	77979184	missense	probably benign	0.01
R4899:Epg5	UTSW	18	77985057	missense	probably damaging	1.00
R5000:Epg5	UTSW	18	77954161	missense	probably benign
R5031:Epg5	UTSW	18	78028948	missense	probably benign	0.00
R5050:Epg5	UTSW	18	77975941	missense	possibly damaging	0.55
R5114:Epg5	UTSW	18	77995613	missense	probably benign
R5144:Epg5	UTSW	18	78015680	missense	probably damaging	1.00
R5209:Epg5	UTSW	18	77951282	missense	probably damaging	1.00
R5213:Epg5	UTSW	18	78014834	missense	probably benign	0.01
R5270:Epg5	UTSW	18	77983563	missense	possibly damaging	0.79
R5324:Epg5	UTSW	18	77962445	missense	possibly damaging	0.94
R5443:Epg5	UTSW	18	78027497	missense	possibly damaging	0.55
R5503:Epg5	UTSW	18	77951207	missense	possibly damaging	0.81
R5593:Epg5	UTSW	18	77957474	missense	probably damaging	1.00
R5718:Epg5	UTSW	18	77986403	missense	probably damaging	1.00
R5773:Epg5	UTSW	18	77960825	missense	probably damaging	1.00
R5828:Epg5	UTSW	18	78020851	missense	probably damaging	0.99
R5847:Epg5	UTSW	18	78030055	missense	probably benign	0.06
R5858:Epg5	UTSW	18	77948299	nonsense	probably null
R5914:Epg5	UTSW	18	77959632	critical splice donor site	probably null
R6124:Epg5	UTSW	18	78030045	missense	probably benign
R6228:Epg5	UTSW	18	77948462	missense	possibly damaging	0.90
R6252:Epg5	UTSW	18	77985167	missense	probably damaging	1.00
R6269:Epg5	UTSW	18	77948370	missense	probably benign
R6312:Epg5	UTSW	18	77979211	missense	possibly damaging	0.72
R6320:Epg5	UTSW	18	77962398	missense	probably damaging	1.00
R6328:Epg5	UTSW	18	78028964	missense	possibly damaging	0.88
R6430:Epg5	UTSW	18	77975885	missense	probably damaging	1.00
R6458:Epg5	UTSW	18	77948254	missense	probably benign	0.03
R6852:Epg5	UTSW	18	78012891	missense	probably damaging	1.00
R6915:Epg5	UTSW	18	77979165	missense	probably benign	0.00
R6930:Epg5	UTSW	18	78014163	missense	probably damaging	0.99
R6932:Epg5	UTSW	18	77948609	missense	probably benign	0.00
R7127:Epg5	UTSW	18	78028925	missense	probably damaging	1.00
R7207:Epg5	UTSW	18	77948955	missense	probably damaging	1.00
R7225:Epg5	UTSW	18	78012702	missense	probably benign	0.45
R7358:Epg5	UTSW	18	77959037	missense	possibly damaging	0.78
R7414:Epg5	UTSW	18	77983532	missense	possibly damaging	0.65
R7437:Epg5	UTSW	18	78023278	missense	probably benign	0.01
R7535:Epg5	UTSW	18	78032926	missense	probably benign	0.18
R7586:Epg5	UTSW	18	78030060	missense	probably benign
R7651:Epg5	UTSW	18	77981400	nonsense	probably null
R7715:Epg5	UTSW	18	77968586	missense	probably damaging	1.00
R7753:Epg5	UTSW	18	77948345	missense	possibly damaging	0.92
X0023:Epg5	UTSW	18	77968657	missense	probably damaging	0.99
X0060:Epg5	UTSW	18	77962485	missense	possibly damaging	0.94
Z1088:Epg5	UTSW	18	77959139	missense	probably benign	0.00

Posted On

2015-04-16