Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Epg5'

552424

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78072140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 2384 (N2384I)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: N2384I

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

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: N2384I

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

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
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	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
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
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'- CTTGTGGACATGAGTGTATCTGAC -3'
(R):5'- TCTGAGTCCTTCCCAAGCAC -3'

Sequencing Primer
(F):5'- GTATCTGACACTTCCTCTTGGCG -3'
(R):5'- ACACGCTACTGCCCCTG -3'

Posted On

2019-05-15