Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02567:Epg5'

298860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78076288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2562 (Y2562C)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: Y2562C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: Y2562C

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,263,578 (GRCm39)	S199R	possibly damaging	Het
Ano1	A	G	7: 144,165,362 (GRCm39)	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564 (GRCm39)	V404M	probably damaging	Het
Carmil3	A	G	14: 55,736,339 (GRCm39)	S635G	possibly damaging	Het
Ccl12	C	A	11: 81,993,447 (GRCm39)	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr3	T	C	12: 33,088,900 (GRCm39)	N761D	probably benign	Het
Col14a1	T	C	15: 55,208,357 (GRCm39)		probably null	Het
Col28a1	T	C	6: 8,014,819 (GRCm39)	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,175,084 (GRCm39)		probably benign	Het
D5Ertd615e	T	C	5: 45,320,758 (GRCm39)		noncoding transcript	Het
Deup1	T	C	9: 15,486,579 (GRCm39)	E367G	probably damaging	Het
Dpp8	T	G	9: 64,986,058 (GRCm39)	Y849*	probably null	Het
Efhc1	T	A	1: 21,043,188 (GRCm39)	V369E	probably damaging	Het
Entrep2	T	A	7: 64,436,479 (GRCm39)	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,728,059 (GRCm39)		probably null	Het
Frem1	A	T	4: 82,918,292 (GRCm39)	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281 (GRCm39)	S889G	probably benign	Het
Golph3	C	T	15: 12,349,507 (GRCm39)	R176*	probably null	Het
Got2	A	T	8: 96,598,829 (GRCm39)	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,241,890 (GRCm39)		probably benign	Het
H4c16	G	A	6: 136,781,272 (GRCm39)	R36W	probably damaging	Het
Hivep3	A	G	4: 119,991,153 (GRCm39)	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,746,611 (GRCm39)	G227D	probably benign	Het
Ifi202b	C	T	1: 173,791,370 (GRCm39)	S436N	possibly damaging	Het
Nf1	T	A	11: 79,437,969 (GRCm39)	V2109D	probably damaging	Het
Opa1	C	A	16: 29,407,104 (GRCm39)	D29E	probably benign	Het
Papln	C	T	12: 83,825,611 (GRCm39)	P631S	probably benign	Het
Pde4c	T	A	8: 71,200,570 (GRCm39)	M352K	probably benign	Het
Pigu	T	C	2: 155,173,112 (GRCm39)	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,079,965 (GRCm39)	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,621,473 (GRCm39)	D642G	probably damaging	Het
Rnf111	T	C	9: 70,366,287 (GRCm39)	T384A	probably damaging	Het
Scn11a	T	C	9: 119,633,555 (GRCm39)	T393A	probably damaging	Het
Sned1	A	T	1: 93,202,069 (GRCm39)	K619M	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syt9	A	G	7: 107,035,868 (GRCm39)	Y295C	probably damaging	Het
Taar7f	T	A	10: 23,926,323 (GRCm39)	Y306N	probably damaging	Het
Tmem107	T	G	11: 68,961,845 (GRCm39)	L25V	possibly damaging	Het
Wdr24	T	G	17: 26,043,322 (GRCm39)	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,848 (GRCm39)	D231G	probably benign	Het
Zfp142	T	C	1: 74,617,309 (GRCm39)	K341E	possibly damaging	Het
Zfp142	T	A	1: 74,617,306 (GRCm39)	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,617,308 (GRCm39)	K341T	possibly damaging	Het
Zfp804b	T	A	5: 6,819,989 (GRCm39)	I989L	probably benign	Het
Zfyve9	A	C	4: 108,531,720 (GRCm39)	V1095G	probably damaging	Het

Other mutations in Epg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Epg5	APN	18	78,055,956 (GRCm39)	missense	probably damaging	1.00
IGL01778:Epg5	APN	18	78,062,489 (GRCm39)	missense	probably damaging	0.98
IGL01936:Epg5	APN	18	78,028,316 (GRCm39)	missense	probably damaging	1.00
IGL02189:Epg5	APN	18	78,056,085 (GRCm39)	missense	probably damaging	0.99
IGL02323:Epg5	APN	18	78,056,047 (GRCm39)	nonsense	probably null
IGL02805:Epg5	APN	18	78,073,406 (GRCm39)	splice site	probably benign
IGL03282:Epg5	APN	18	78,029,641 (GRCm39)	missense	probably benign	0.25
stitch	UTSW	18	77,991,514 (GRCm39)	nonsense	probably null
R0011:Epg5	UTSW	18	77,991,698 (GRCm39)	missense	probably benign
R0172:Epg5	UTSW	18	78,070,574 (GRCm39)	missense	probably benign	0.00
R0335:Epg5	UTSW	18	78,029,687 (GRCm39)	missense	probably benign	0.25
R0380:Epg5	UTSW	18	78,004,056 (GRCm39)	missense	probably damaging	1.00
R0441:Epg5	UTSW	18	78,066,486 (GRCm39)	splice site	probably benign
R0443:Epg5	UTSW	18	77,999,118 (GRCm39)	splice site	probably benign
R0445:Epg5	UTSW	18	78,057,399 (GRCm39)	missense	possibly damaging	0.87
R0448:Epg5	UTSW	18	78,066,580 (GRCm39)	missense	probably damaging	1.00
R0892:Epg5	UTSW	18	78,011,843 (GRCm39)	missense	possibly damaging	0.94
R1081:Epg5	UTSW	18	78,002,748 (GRCm39)	missense	possibly damaging	0.92
R1183:Epg5	UTSW	18	78,003,926 (GRCm39)	missense	probably damaging	1.00
R1374:Epg5	UTSW	18	78,024,541 (GRCm39)	missense	probably benign
R1428:Epg5	UTSW	18	78,005,642 (GRCm39)	missense	probably damaging	1.00
R1727:Epg5	UTSW	18	78,059,030 (GRCm39)	missense	possibly damaging	0.94
R1780:Epg5	UTSW	18	78,067,205 (GRCm39)	missense	probably damaging	0.99
R1801:Epg5	UTSW	18	78,026,705 (GRCm39)	missense	possibly damaging	0.63
R1864:Epg5	UTSW	18	78,018,246 (GRCm39)	missense	probably damaging	0.99
R1908:Epg5	UTSW	18	78,002,247 (GRCm39)	missense	probably benign	0.26
R1909:Epg5	UTSW	18	78,002,247 (GRCm39)	missense	probably benign	0.26
R1916:Epg5	UTSW	18	78,008,236 (GRCm39)	missense	probably benign	0.00
R1986:Epg5	UTSW	18	78,025,521 (GRCm39)	critical splice acceptor site	probably null
R2048:Epg5	UTSW	18	78,067,202 (GRCm39)	missense	probably damaging	0.98
R2080:Epg5	UTSW	18	77,991,960 (GRCm39)	missense	probably benign	0.01
R2106:Epg5	UTSW	18	78,034,578 (GRCm39)	nonsense	probably null
R2144:Epg5	UTSW	18	77,997,412 (GRCm39)	missense	possibly damaging	0.78
R2151:Epg5	UTSW	18	78,070,517 (GRCm39)	missense	probably benign
R2217:Epg5	UTSW	18	77,992,287 (GRCm39)	missense	probably benign
R2424:Epg5	UTSW	18	78,011,828 (GRCm39)	missense	probably benign	0.05
R2909:Epg5	UTSW	18	78,026,691 (GRCm39)	missense	probably damaging	1.00
R3725:Epg5	UTSW	18	78,060,894 (GRCm39)	missense	probably benign	0.00
R3899:Epg5	UTSW	18	78,000,725 (GRCm39)	missense	probably damaging	1.00
R4019:Epg5	UTSW	18	78,073,665 (GRCm39)	missense	probably damaging	0.98
R4260:Epg5	UTSW	18	78,058,914 (GRCm39)	missense	probably damaging	1.00
R4260:Epg5	UTSW	18	78,002,336 (GRCm39)	missense	possibly damaging	0.50
R4448:Epg5	UTSW	18	78,005,676 (GRCm39)	missense	probably damaging	1.00
R4475:Epg5	UTSW	18	77,991,723 (GRCm39)	missense	probably benign
R4612:Epg5	UTSW	18	78,025,629 (GRCm39)	missense	possibly damaging	0.77
R4666:Epg5	UTSW	18	78,056,079 (GRCm39)	missense	probably benign	0.45
R4767:Epg5	UTSW	18	78,066,498 (GRCm39)	missense	possibly damaging	0.67
R4779:Epg5	UTSW	18	78,034,580 (GRCm39)	missense	probably benign	0.01
R4791:Epg5	UTSW	18	77,992,211 (GRCm39)	nonsense	probably null
R4797:Epg5	UTSW	18	78,073,614 (GRCm39)	missense	probably benign	0.00
R4812:Epg5	UTSW	18	78,022,399 (GRCm39)	missense	probably benign	0.01
R4899:Epg5	UTSW	18	78,028,272 (GRCm39)	missense	probably damaging	1.00
R5000:Epg5	UTSW	18	77,997,376 (GRCm39)	missense	probably benign
R5031:Epg5	UTSW	18	78,072,163 (GRCm39)	missense	probably benign	0.00
R5050:Epg5	UTSW	18	78,019,156 (GRCm39)	missense	possibly damaging	0.55
R5114:Epg5	UTSW	18	78,038,828 (GRCm39)	missense	probably benign
R5144:Epg5	UTSW	18	78,058,895 (GRCm39)	missense	probably damaging	1.00
R5209:Epg5	UTSW	18	77,994,497 (GRCm39)	missense	probably damaging	1.00
R5213:Epg5	UTSW	18	78,058,049 (GRCm39)	missense	probably benign	0.01
R5270:Epg5	UTSW	18	78,026,778 (GRCm39)	missense	possibly damaging	0.79
R5324:Epg5	UTSW	18	78,005,660 (GRCm39)	missense	possibly damaging	0.94
R5443:Epg5	UTSW	18	78,070,712 (GRCm39)	missense	possibly damaging	0.55
R5503:Epg5	UTSW	18	77,994,422 (GRCm39)	missense	possibly damaging	0.81
R5593:Epg5	UTSW	18	78,000,689 (GRCm39)	missense	probably damaging	1.00
R5718:Epg5	UTSW	18	78,029,618 (GRCm39)	missense	probably damaging	1.00
R5773:Epg5	UTSW	18	78,004,040 (GRCm39)	missense	probably damaging	1.00
R5828:Epg5	UTSW	18	78,064,066 (GRCm39)	missense	probably damaging	0.99
R5847:Epg5	UTSW	18	78,073,270 (GRCm39)	missense	probably benign	0.06
R5858:Epg5	UTSW	18	77,991,514 (GRCm39)	nonsense	probably null
R5914:Epg5	UTSW	18	78,002,847 (GRCm39)	critical splice donor site	probably null
R6124:Epg5	UTSW	18	78,073,260 (GRCm39)	missense	probably benign
R6228:Epg5	UTSW	18	77,991,677 (GRCm39)	missense	possibly damaging	0.90
R6252:Epg5	UTSW	18	78,028,382 (GRCm39)	missense	probably damaging	1.00
R6269:Epg5	UTSW	18	77,991,585 (GRCm39)	missense	probably benign
R6312:Epg5	UTSW	18	78,022,426 (GRCm39)	missense	possibly damaging	0.72
R6320:Epg5	UTSW	18	78,005,613 (GRCm39)	missense	probably damaging	1.00
R6328:Epg5	UTSW	18	78,072,179 (GRCm39)	missense	possibly damaging	0.88
R6430:Epg5	UTSW	18	78,019,100 (GRCm39)	missense	probably damaging	1.00
R6458:Epg5	UTSW	18	77,991,469 (GRCm39)	missense	probably benign	0.03
R6852:Epg5	UTSW	18	78,056,106 (GRCm39)	missense	probably damaging	1.00
R6915:Epg5	UTSW	18	78,022,380 (GRCm39)	missense	probably benign	0.00
R6930:Epg5	UTSW	18	78,057,378 (GRCm39)	missense	probably damaging	0.99
R6932:Epg5	UTSW	18	77,991,824 (GRCm39)	missense	probably benign	0.00
R7127:Epg5	UTSW	18	78,072,140 (GRCm39)	missense	probably damaging	1.00
R7207:Epg5	UTSW	18	77,992,170 (GRCm39)	missense	probably damaging	1.00
R7225:Epg5	UTSW	18	78,055,917 (GRCm39)	missense	probably benign	0.45
R7358:Epg5	UTSW	18	78,002,252 (GRCm39)	missense	possibly damaging	0.78
R7414:Epg5	UTSW	18	78,026,747 (GRCm39)	missense	possibly damaging	0.65
R7437:Epg5	UTSW	18	78,066,493 (GRCm39)	missense	probably benign	0.01
R7535:Epg5	UTSW	18	78,076,141 (GRCm39)	missense	probably benign	0.18
R7586:Epg5	UTSW	18	78,073,275 (GRCm39)	missense	probably benign
R7651:Epg5	UTSW	18	78,024,615 (GRCm39)	nonsense	probably null
R7715:Epg5	UTSW	18	78,011,801 (GRCm39)	missense	probably damaging	1.00
R7753:Epg5	UTSW	18	77,991,560 (GRCm39)	missense	possibly damaging	0.92
R7981:Epg5	UTSW	18	78,052,929 (GRCm39)	critical splice donor site	probably null
R8114:Epg5	UTSW	18	78,073,365 (GRCm39)	missense	probably benign	0.41
R8124:Epg5	UTSW	18	78,008,211 (GRCm39)	missense	probably benign	0.05
R8307:Epg5	UTSW	18	78,065,894 (GRCm39)	missense	probably damaging	1.00
R8458:Epg5	UTSW	18	77,991,946 (GRCm39)	missense	probably benign	0.00
R8751:Epg5	UTSW	18	78,008,225 (GRCm39)	missense	probably benign	0.28
R8751:Epg5	UTSW	18	78,008,224 (GRCm39)	missense	possibly damaging	0.65
R8751:Epg5	UTSW	18	78,008,223 (GRCm39)	missense	probably benign	0.07
R8888:Epg5	UTSW	18	78,056,086 (GRCm39)	missense	possibly damaging	0.76
R8971:Epg5	UTSW	18	78,022,434 (GRCm39)	missense	probably damaging	1.00
R9045:Epg5	UTSW	18	77,992,014 (GRCm39)	missense	probably damaging	1.00
R9291:Epg5	UTSW	18	78,056,065 (GRCm39)	nonsense	probably null
R9327:Epg5	UTSW	18	77,991,435 (GRCm39)	missense	probably benign	0.00
R9365:Epg5	UTSW	18	77,997,957 (GRCm39)	missense	probably damaging	1.00
R9742:Epg5	UTSW	18	78,024,170 (GRCm39)	missense	probably damaging	1.00
X0023:Epg5	UTSW	18	78,011,872 (GRCm39)	missense	probably damaging	0.99
X0060:Epg5	UTSW	18	78,005,700 (GRCm39)	missense	possibly damaging	0.94
Z1088:Epg5	UTSW	18	78,002,354 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16