Mutagenetix > Incidental Mutation

Incidental Mutation 'R5828:Epg5'

450300

Institutional Source

Beutler Lab

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 #

R5828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78064066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 2048 (Y2048N)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: Y2048N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: Y2048N

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

0.4176

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,144 (GRCm39)	D95G	unknown	Het
Arl10	T	A	13: 54,726,768 (GRCm39)	V182E	probably damaging	Het
Cacna1g	T	G	11: 94,347,980 (GRCm39)	S703R	probably damaging	Het
Ces2a	C	A	8: 105,465,956 (GRCm39)	T363N	probably benign	Het
Col14a1	G	A	15: 55,300,372 (GRCm39)	V967I	unknown	Het
Col22a1	A	T	15: 71,881,340 (GRCm39)	F4I	probably benign	Het
D630045J12Rik	A	G	6: 38,173,302 (GRCm39)	W289R	possibly damaging	Het
Disc1	A	G	8: 125,977,763 (GRCm39)	Q793R	probably damaging	Het
Dnhd1	C	T	7: 105,369,388 (GRCm39)	T4337I	probably benign	Het
Eif2b5	T	A	16: 20,321,536 (GRCm39)	V363D	possibly damaging	Het
Emsy	T	C	7: 98,242,699 (GRCm39)	T1147A	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxred1	A	G	9: 35,121,492 (GRCm39)		probably benign	Het
Gpaa1	T	C	15: 76,216,471 (GRCm39)		probably benign	Het
Gria4	A	C	9: 4,432,832 (GRCm39)	L784V	probably damaging	Het
Homer3	A	G	8: 70,738,956 (GRCm39)	Y105C	probably benign	Het
Hpgd	T	C	8: 56,772,106 (GRCm39)	S193P	probably benign	Het
Irf1	T	A	11: 53,666,762 (GRCm39)	W247R	probably benign	Het
Lpgat1	A	G	1: 191,508,494 (GRCm39)	Q344R	possibly damaging	Het
Luzp1	T	C	4: 136,267,993 (GRCm39)	V72A	probably damaging	Het
Malrd1	G	A	2: 15,531,464 (GRCm39)	V8M	probably benign	Het
Msmo1	T	C	8: 65,172,144 (GRCm39)	H253R	probably damaging	Het
Nom1	A	G	5: 29,640,124 (GRCm39)	K150R	possibly damaging	Het
Onecut1	A	G	9: 74,770,042 (GRCm39)	E155G	probably benign	Het
Or12k7	A	G	2: 36,959,001 (GRCm39)	H228R	probably benign	Het
Or14c46	T	A	7: 85,918,728 (GRCm39)	M90L	probably benign	Het
Or5p59	T	C	7: 107,703,005 (GRCm39)	V163A	possibly damaging	Het
Osbpl10	G	A	9: 114,890,944 (GRCm39)	V111M	probably damaging	Het
Pcdhgb6	T	C	18: 37,877,457 (GRCm39)	S722P	probably benign	Het
Plin4	T	A	17: 56,414,064 (GRCm39)	D187V	probably damaging	Het
Pmf1	T	C	3: 88,303,294 (GRCm39)	E89G	possibly damaging	Het
Polr1d	A	T	5: 147,014,408 (GRCm39)		probably benign	Het
Ppp1r9a	T	C	6: 5,158,200 (GRCm39)	Y1006H	probably damaging	Het
Ppp2r5c	A	G	12: 110,537,134 (GRCm39)	K420E	probably benign	Het
Prdx1	T	C	4: 116,551,006 (GRCm39)	L159P	probably damaging	Het
Psmd6	G	T	14: 14,119,990 (GRCm38)	D39E	probably benign	Het
Rffl	T	C	11: 82,709,244 (GRCm39)	K60E	probably damaging	Het
Rspo2	A	T	15: 42,939,283 (GRCm39)	L169Q	probably damaging	Het
Sbf1	T	A	15: 89,172,837 (GRCm39)	D1892V	probably damaging	Het
Sbno2	G	A	10: 79,902,424 (GRCm39)	S475F	possibly damaging	Het
Serpina3i	T	A	12: 104,231,474 (GRCm39)	V37E	probably benign	Het
Siglecf	G	A	7: 43,001,137 (GRCm39)	C35Y	probably damaging	Het
Slc22a27	G	T	19: 7,903,767 (GRCm39)	D123E	probably damaging	Het
Smim23	T	A	11: 32,770,592 (GRCm39)	K105*	probably null	Het
Soat1	C	T	1: 156,265,318 (GRCm39)	S348N	probably benign	Het
Sp2	C	T	11: 96,851,811 (GRCm39)		probably benign	Het
St14	T	A	9: 31,002,803 (GRCm39)	H700L	probably damaging	Het
St3gal1	T	A	15: 66,985,634 (GRCm39)	K7*	probably null	Het
Tgm1	T	C	14: 55,943,011 (GRCm39)	K610E	probably benign	Het
Tob1	T	A	11: 94,104,583 (GRCm39)	Y40N	probably damaging	Het
Tob1	T	A	11: 94,104,585 (GRCm39)	Y40*	probably null	Het
Trpc4ap	A	G	2: 155,477,130 (GRCm39)		probably benign	Het
Ttc9	C	T	12: 81,678,450 (GRCm39)	P91L	probably benign	Het
Zbtb18	T	C	1: 177,275,446 (GRCm39)	S269P	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	A	T	13: 92,650,410 (GRCm39)	V858E	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
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'- ACATGGACTTGGGTTAAAAGCC -3'
(R):5'- TAGCAGAGCCAAAGTCCTTCC -3'

Sequencing Primer
(F):5'- GGTTAAAAGCCGTTTAGAAGTTTTG -3'
(R):5'- AGAGCCAAAGTCCTTCCTCTGG -3'

Posted On

2016-12-20