Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Epg5'

683137

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

068805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78022434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1059 (L1059Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: L1059Q

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

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: L1059Q

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

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,236,383 (GRCm39)	H44R	unknown	Het
Acp6	C	T	3: 97,078,961 (GRCm39)	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,033,404 (GRCm39)	N97S	possibly damaging	Het
Afm	T	A	5: 90,696,675 (GRCm39)	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,692,952 (GRCm39)	D927E	probably benign	Het
Ap2a2	T	C	7: 141,191,258 (GRCm39)	V275A	probably benign	Het
Arfgef2	A	T	2: 166,701,221 (GRCm39)	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,797,061 (GRCm39)	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,219,516 (GRCm39)	A193V		Het
Bicra	T	A	7: 15,721,481 (GRCm39)	I679L	probably benign	Het
Ccm2l	G	A	2: 152,909,756 (GRCm39)	R36H	probably damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Cela3a	C	T	4: 137,133,222 (GRCm39)	G50D	probably benign	Het
Cep152	T	A	2: 125,421,770 (GRCm39)	R987*	probably null	Het
Cnnm2	T	C	19: 46,845,362 (GRCm39)	V618A	probably benign	Het
Crim1	G	A	17: 78,653,409 (GRCm39)	R593Q	possibly damaging	Het
Ctsc	A	G	7: 87,959,024 (GRCm39)	S435G	probably benign	Het
Dcbld1	G	T	10: 52,195,958 (GRCm39)	A460S	probably benign	Het
Dcbld2	A	G	16: 58,276,715 (GRCm39)	E502G	probably benign	Het
Dhx30	A	T	9: 109,913,513 (GRCm39)	L1207*	probably null	Het
Dlx2	A	T	2: 71,376,716 (GRCm39)	S7R	possibly damaging	Het
Dmwd	T	A	7: 18,814,973 (GRCm39)	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,997,575 (GRCm39)	L588V	possibly damaging	Het
Dmxl1	C	T	18: 50,026,741 (GRCm39)	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,358,528 (GRCm39)	L3339*	probably null	Het
Elovl1	C	A	4: 118,288,709 (GRCm39)	P160Q	probably damaging	Het
Fam149b	C	T	14: 20,402,777 (GRCm39)	S53F	probably benign	Het
Fat1	T	A	8: 45,495,331 (GRCm39)	C4140S	probably damaging	Het
Gria2	C	T	3: 80,615,200 (GRCm39)	V427I	probably damaging	Het
H2al2a	C	A	2: 18,001,537 (GRCm39)	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,684,858 (GRCm39)	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,312,033 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,822,987 (GRCm39)	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,332,273 (GRCm39)	D553E	probably damaging	Het
Kif3a	T	A	11: 53,474,189 (GRCm39)	L251Q	probably damaging	Het
Klb	T	A	5: 65,533,026 (GRCm39)	I445K	probably damaging	Het
Klhl29	T	A	12: 5,190,710 (GRCm39)		probably null	Het
Lipf	A	G	19: 33,942,273 (GRCm39)	K68E	probably benign	Het
Lnx2	T	A	5: 146,970,236 (GRCm39)	I169L	probably benign	Het
Lrba	A	C	3: 86,522,388 (GRCm39)	I2223L	probably benign	Het
Lrp1	C	T	10: 127,391,896 (GRCm39)	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,325,640 (GRCm39)	T926A		Het
Lrrc37a	T	A	11: 103,391,490 (GRCm39)	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,647,153 (GRCm39)	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,141 (GRCm39)	V122A	probably damaging	Het
Lsm14b	T	C	2: 179,667,107 (GRCm39)		probably null	Het
Magel2	A	C	7: 62,029,999 (GRCm39)	I968L	unknown	Het
Mapkbp1	T	C	2: 119,850,050 (GRCm39)	V771A	probably benign	Het
Mtmr4	T	C	11: 87,493,626 (GRCm39)	S295P	probably benign	Het
Nanos3	T	A	8: 84,902,815 (GRCm39)	T116S	probably benign	Het
Nectin3	T	C	16: 46,269,265 (GRCm39)	D379G	probably benign	Het
Nelfa	T	C	5: 34,093,539 (GRCm39)	H14R	possibly damaging	Het
Nnt	A	G	13: 119,502,967 (GRCm39)	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Or4c115	T	A	2: 88,927,891 (GRCm39)	K127*	probably null	Het
Or52p1	A	T	7: 104,267,467 (GRCm39)	T194S	probably damaging	Het
Or5m13b	T	C	2: 85,754,328 (GRCm39)	S239P	probably damaging	Het
Or5w22	T	A	2: 87,362,580 (GRCm39)	C68S	probably benign	Het
Or6f1	T	A	7: 85,970,369 (GRCm39)	I264F	possibly damaging	Het
Palld	A	T	8: 61,969,735 (GRCm39)	D1196E	unknown	Het
Parl	A	G	16: 20,116,909 (GRCm39)	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,852,367 (GRCm39)	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,392,915 (GRCm39)	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,493,229 (GRCm39)	E712G	probably null	Het
Rasgrf2	T	C	13: 92,158,225 (GRCm39)	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,677,792 (GRCm39)	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,016,337 (GRCm39)		probably benign	Het
Rmnd5b	T	C	11: 51,515,322 (GRCm39)	S315G	probably benign	Het
Rp1l1	T	A	14: 64,259,445 (GRCm39)	V29E	probably damaging	Het
Sclt1	T	C	3: 41,681,541 (GRCm39)	T93A	probably benign	Het
Shroom1	T	A	11: 53,355,994 (GRCm39)	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,785 (GRCm39)	K545E	probably benign	Het
Slc20a2	C	T	8: 23,030,396 (GRCm39)	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,879,718 (GRCm39)	Y447C	probably damaging	Het
Slu7	C	A	11: 43,333,480 (GRCm39)	Q367K	probably benign	Het
Spen	T	C	4: 141,201,889 (GRCm39)	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,156,045 (GRCm39)	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,190,541 (GRCm39)	V530A		Het
Tnrc6c	T	C	11: 117,640,089 (GRCm39)	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 21,067,321 (GRCm39)	T170I	possibly damaging	Het
Vps29	A	G	5: 122,498,212 (GRCm39)	D51G	probably benign	Het
Washc2	T	C	6: 116,231,399 (GRCm39)	L874P	probably damaging	Het
Wdr5b	T	C	16: 35,861,926 (GRCm39)	L15P	probably benign	Het
Zscan20	T	A	4: 128,479,847 (GRCm39)	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,479,848 (GRCm39)	Q881P	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
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'- AACTGAGACAGTCCAGCTTG -3'
(R):5'- TAGTCAGTTAAATGGGCGGG -3'

Sequencing Primer
(F):5'- AACTGAGACAGTCCAGCTTGTATCTC -3'
(R):5'- TTGTACCCCTCTCTACAAACTCAGAG -3'

Posted On

2021-10-11