Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Epg5'

39348

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R0445 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78057399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1826 (V1826D)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044622
AA Change: V1826D

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: V1826D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTGGTTAAACAGCACTAAGCCC -3'
(R):5'- ACTCCACCCTCCTACAGTGATTGAG -3'

Sequencing Primer
(F):5'- AGCACTAAGCCCCCTCTG -3'
(R):5'- tgcgtgtctcctttcacc -3'

Posted On

2013-05-23