Mutagenetix > Incidental Mutation

Incidental Mutation 'R2909:Epg5'

261165

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

040496-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R2909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 78026691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 1227 (W1227C)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: W1227C

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

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: W1227C

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	G	A	2: 158,467,140 (GRCm39)	G27R	possibly damaging	Het
Bltp1	A	G	3: 37,002,102 (GRCm39)	D1349G	probably damaging	Het
Chrm3	G	T	13: 9,928,033 (GRCm39)	D334E	probably benign	Het
Clic5	A	C	17: 44,586,146 (GRCm39)	T212P	probably benign	Het
Dapk1	G	A	13: 60,864,631 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,049,114 (GRCm39)	L3262H	probably damaging	Het
Fancm	T	C	12: 65,171,630 (GRCm39)	S1757P	probably damaging	Het
Gm3604	G	C	13: 62,516,832 (GRCm39)	H509D	probably benign	Het
Gramd4	G	T	15: 86,006,384 (GRCm39)	E163*	probably null	Het
Hip1r	T	A	5: 124,138,656 (GRCm39)		probably null	Het
Ice1	G	T	13: 70,744,292 (GRCm39)	T2097K	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Kbtbd7	A	G	14: 79,665,922 (GRCm39)	T585A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	T	C	15: 65,897,085 (GRCm39)	T272A	possibly damaging	Het
Ly6l	T	G	15: 75,321,481 (GRCm39)		probably null	Het
Minar1	T	C	9: 89,473,331 (GRCm39)	N860S	probably damaging	Het
Mrps11	C	A	7: 78,438,497 (GRCm39)	A83E	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Pax7	T	C	4: 139,556,007 (GRCm39)	I156V	possibly damaging	Het
Plbd1	A	T	6: 136,611,572 (GRCm39)	V235D	probably damaging	Het
Pml	T	C	9: 58,154,526 (GRCm39)	S76G	possibly damaging	Het
Ppp1r42	T	A	1: 10,073,637 (GRCm39)		probably benign	Het
Rsl24d1	T	C	9: 73,029,585 (GRCm39)	L61S	probably damaging	Het
Rtp2	T	C	16: 23,746,235 (GRCm39)	E132G	probably damaging	Het
Sgk1	A	G	10: 21,870,715 (GRCm39)	I23V	probably benign	Het
Sharpin	A	G	15: 76,234,811 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Slc12a9	T	C	5: 137,330,463 (GRCm39)	I81V	probably benign	Het
Stxbp5l	G	A	16: 37,028,548 (GRCm39)	T505M	possibly damaging	Het
Tmem40	A	G	6: 115,713,342 (GRCm39)		probably null	Het
Tnfrsf18	A	T	4: 156,112,727 (GRCm39)	N138Y	probably damaging	Het
Vmn2r87	A	T	10: 130,314,865 (GRCm39)	N240K	probably damaging	Het
Vmn2r91	A	G	17: 18,356,661 (GRCm39)	E776G	probably damaging	Het
Vmn2r92	T	A	17: 18,405,377 (GRCm39)	N840K	possibly damaging	Het
Vmn2r98	T	C	17: 19,287,664 (GRCm39)	I499T	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
IGL02567:Epg5	APN	18	78,076,288 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AACTCAATATCTGTGGCTTGAGACC -3'
(R):5'- TTAACAGGCTACAGTGAACGG -3'

Sequencing Primer
(F):5'- GCTTGAGACCTGCATGCATG -3'
(R):5'- CTACAGTGAACGGCTCAGCTAG -3'

Posted On

2015-01-23