Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Epg5'

708939

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R9365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77997957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 462 (L462I)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: L462I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: L462I

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: 99.0%

Validation Efficiency

100% (60/60)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ahi1	G	A	10: 20,848,035 (GRCm39)	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,101,555 (GRCm39)	I77T	probably damaging	Het
Ash1l	T	A	3: 88,889,207 (GRCm39)	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,225,294 (GRCm39)	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,738,011 (GRCm39)	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288 (GRCm39)	V15I	probably benign	Het
Cenpe	T	A	3: 134,954,207 (GRCm39)	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,774,727 (GRCm39)	F4I	probably benign	Het
Chchd6	G	A	6: 89,551,413 (GRCm39)	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798 (GRCm39)	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146 (GRCm39)	L108P	probably damaging	Het
Cyb5a	T	C	18: 84,894,979 (GRCm39)		probably benign	Het
Dhrs4	C	T	14: 55,724,776 (GRCm39)	T181I	probably benign	Het
Disc1	T	C	8: 125,851,285 (GRCm39)	S392P	probably benign	Het
Dnah3	A	G	7: 119,566,859 (GRCm39)	F69L		Het
Ehmt1	T	C	2: 24,728,722 (GRCm39)	D726G	probably damaging	Het
Exoc2	A	T	13: 31,040,697 (GRCm39)	S774T	probably benign	Het
Fam135b	A	G	15: 71,334,813 (GRCm39)	S794P	probably benign	Het
Frmd4a	T	C	2: 4,606,973 (GRCm39)	V646A	probably benign	Het
Gm3543	G	T	14: 41,804,093 (GRCm39)	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,736,124 (GRCm39)	D1831E	probably damaging	Het
Hace1	T	G	10: 45,586,092 (GRCm39)		probably null	Het
Irgc	T	C	7: 24,131,872 (GRCm39)	E315G	possibly damaging	Het
Ism1	A	G	2: 139,582,321 (GRCm39)	Y211C	probably damaging	Het
Kpna1	T	G	16: 35,833,287 (GRCm39)	V121G	probably damaging	Het
Lifr	T	A	15: 7,198,521 (GRCm39)	F250L	probably damaging	Het
Llgl2	A	G	11: 115,740,407 (GRCm39)	T368A	probably benign	Het
Lmln	T	A	16: 32,925,169 (GRCm39)	C467*	probably null	Het
Lrrtm3	T	C	10: 63,923,943 (GRCm39)	E408G	probably benign	Het
Melk	C	T	4: 44,340,693 (GRCm39)	A330V	probably null	Het
Mmp13	T	G	9: 7,277,921 (GRCm39)	D271E	probably benign	Het
Myh11	T	C	16: 14,052,297 (GRCm39)	T390A		Het
Myh8	A	G	11: 67,174,632 (GRCm39)	K249R	probably benign	Het
Nr1h4	T	A	10: 89,319,315 (GRCm39)	M184L	probably damaging	Het
Obscn	T	A	11: 58,885,337 (GRCm39)		probably null	Het
Otog	T	G	7: 45,920,688 (GRCm39)	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,010,589 (GRCm39)	S170P	probably benign	Het
Pcdha4	T	C	18: 37,087,112 (GRCm39)	S432P	possibly damaging	Het
Prb1a	T	A	6: 132,184,201 (GRCm39)	R477S	unknown	Het
Prh1	G	A	6: 132,549,108 (GRCm39)	G205D	unknown	Het
Psg23	C	T	7: 18,344,393 (GRCm39)	G354D	probably damaging	Het
Pura	T	G	18: 36,420,913 (GRCm39)	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,315,117 (GRCm39)	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,026,620 (GRCm39)	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,148,465 (GRCm39)	F7L	probably benign	Het
Sftpb	A	T	6: 72,284,189 (GRCm39)	R203*	probably null	Het
Slc30a9	A	G	5: 67,507,142 (GRCm39)	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,496,333 (GRCm39)	M156K	probably benign	Het
Slc41a3	A	G	6: 90,612,327 (GRCm39)	I232V	probably benign	Het
Slit2	A	G	5: 48,461,534 (GRCm39)	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,623,540 (GRCm39)	V389G	possibly damaging	Het
Sun2	C	T	15: 79,622,720 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,064,597 (GRCm39)	A2386D	probably damaging	Het
Tex15	T	A	8: 34,064,564 (GRCm39)	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,942,349 (GRCm39)	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Ube4a	T	C	9: 44,862,191 (GRCm39)	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712 (GRCm39)	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,488,064 (GRCm39)	D312E	probably damaging	Het
Wdr55	T	G	18: 36,893,354 (GRCm39)	C5W	probably damaging	Het
Zbtb24	C	A	10: 41,332,540 (GRCm39)	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,079,591 (GRCm39)	I789F	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
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
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'- GGATGTTGACTCACCAAGTGTC -3'
(R):5'- CACATCCTCCTGGTTGAAGG -3'

Sequencing Primer
(F):5'- GTTGACTCACCAAGTGTCTAATTATG -3'
(R):5'- GGTAAGAACACTGGCTGCTCTTC -3'

Posted On

2022-04-18