Mutagenetix > Incidental Mutation

Incidental Mutation 'R1183:Epg5'

101838

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules 5 autophagy tethering factor

Synonyms

5430411K18Rik

MMRRC Submission

039255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R1183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77981680-78078228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78003926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 645 (T645A)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: T645A

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

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: T645A

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: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,768,206 (GRCm39)	Y192*	probably null	Het
Abcc6	T	C	7: 45,634,677 (GRCm39)	Y1100C	probably damaging	Het
Adamtsl2	T	C	2: 26,974,092 (GRCm39)	W132R	probably damaging	Het
Adgra2	T	A	8: 27,604,416 (GRCm39)	V497E	probably damaging	Het
Adtrp	T	G	13: 41,981,813 (GRCm39)		probably benign	Het
Alg9	T	A	9: 50,700,833 (GRCm39)	L201Q	possibly damaging	Het
Ap4e1	T	A	2: 126,856,121 (GRCm39)	I84K	probably damaging	Het
Atrnl1	T	C	19: 57,638,725 (GRCm39)	S288P	probably damaging	Het
Bltp1	T	A	3: 36,949,452 (GRCm39)	L366Q	possibly damaging	Het
Cacna1a	A	G	8: 85,306,846 (GRCm39)	D1367G	probably damaging	Het
Card19	C	T	13: 49,358,727 (GRCm39)	R82Q	probably damaging	Het
Cep128	T	C	12: 91,292,372 (GRCm39)	I226V	possibly damaging	Het
Ces1f	A	C	8: 93,994,633 (GRCm39)	D259E	probably benign	Het
Ckap5	T	A	2: 91,416,611 (GRCm39)	M1072K	probably benign	Het
Dcpp2	T	A	17: 24,119,468 (GRCm39)	V94D	probably benign	Het
Dnah2	T	C	11: 69,337,474 (GRCm39)	D3209G	possibly damaging	Het
Dsg1c	A	G	18: 20,416,255 (GRCm39)	T719A	probably damaging	Het
Dsp	G	A	13: 38,375,716 (GRCm39)	W1167*	probably null	Het
Eml5	T	C	12: 98,758,305 (GRCm39)	I1874V	probably benign	Het
F2rl2	T	C	13: 95,837,621 (GRCm39)	L222S	probably damaging	Het
Fam114a1	T	A	5: 65,191,731 (GRCm39)	C495S	probably damaging	Het
Fbn1	A	T	2: 125,163,537 (GRCm39)	D2106E	probably benign	Het
Fgf14	T	A	14: 124,913,936 (GRCm39)	N65I	probably benign	Het
Fip1l1	T	C	5: 74,755,763 (GRCm39)	Y497H	probably damaging	Het
Fn1	A	C	1: 71,625,404 (GRCm39)	D2376E	probably damaging	Het
Foxd2	T	C	4: 114,764,662 (GRCm39)	T453A	possibly damaging	Het
Galnt1	G	T	18: 24,404,647 (GRCm39)	W328L	probably damaging	Het
Gapt	A	G	13: 110,490,372 (GRCm39)	V97A	possibly damaging	Het
Gatad1	A	G	5: 3,693,707 (GRCm39)	V154A	possibly damaging	Het
Gdf15	A	G	8: 71,084,202 (GRCm39)	F21L	probably benign	Het
Igdcc4	T	C	9: 65,029,182 (GRCm39)	F273S	possibly damaging	Het
Invs	A	T	4: 48,421,725 (GRCm39)	R786W	possibly damaging	Het
Itfg1	T	G	8: 86,507,152 (GRCm39)	E236A	probably benign	Het
Jak3	A	T	8: 72,137,194 (GRCm39)	I752F	probably damaging	Het
Kcnip3	C	A	2: 127,306,985 (GRCm39)	G144W	probably damaging	Het
Kctd19	T	C	8: 106,109,598 (GRCm39)	H925R	probably benign	Het
Kdr	C	T	5: 76,107,511 (GRCm39)	A1011T	probably damaging	Het
Kif13b	C	A	14: 65,019,826 (GRCm39)	H1398Q	probably benign	Het
Lrp4	A	T	2: 91,307,864 (GRCm39)		probably null	Het
Lrtm2	T	C	6: 119,297,846 (GRCm39)	D65G	probably benign	Het
Lyz1	A	G	10: 117,128,715 (GRCm39)	L10P	probably damaging	Het
Metap2	A	T	10: 93,706,046 (GRCm39)	N245K	probably damaging	Het
Mms19	T	C	19: 41,943,270 (GRCm39)	D297G	possibly damaging	Het
Mocs3	A	G	2: 168,073,573 (GRCm39)	D340G	possibly damaging	Het
Mtfr1l	A	G	4: 134,256,436 (GRCm39)	L243P	probably damaging	Het
Mtss1	A	G	15: 58,842,897 (GRCm39)	I105T	probably damaging	Het
Myo18a	T	C	11: 77,748,571 (GRCm39)	S1967P	probably damaging	Het
Ncor2	T	C	5: 125,100,585 (GRCm39)	N2248S	possibly damaging	Het
Nfatc2	T	C	2: 168,432,008 (GRCm39)	D35G	possibly damaging	Het
Nup210l	T	A	3: 90,067,252 (GRCm39)	M764K	probably benign	Het
Or10a3n	A	G	7: 108,492,948 (GRCm39)	L222P	probably damaging	Het
Otof	T	C	5: 30,529,256 (GRCm39)	S1753G	probably damaging	Het
Otog	G	A	7: 45,939,179 (GRCm39)	V2070I	probably benign	Het
Piezo2	A	G	18: 63,219,824 (GRCm39)	V961A	probably damaging	Het
Pofut1	C	T	2: 153,103,158 (GRCm39)	S169L	probably benign	Het
Ppp1r10	T	A	17: 36,240,335 (GRCm39)	S542T	possibly damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Ptges3l	T	C	11: 101,312,731 (GRCm39)	D113G	possibly damaging	Het
Pycr3	G	A	15: 75,790,647 (GRCm39)	L71F	probably benign	Het
Ramp3	A	G	11: 6,624,867 (GRCm39)	K54E	possibly damaging	Het
Rbpms	C	A	8: 34,294,100 (GRCm39)	Q214H	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo4	C	A	9: 37,319,348 (GRCm39)	D565E	probably damaging	Het
S100a1	C	T	3: 90,418,641 (GRCm39)	V58I	probably benign	Het
Setx	T	A	2: 29,070,104 (GRCm39)	D2636E	probably benign	Het
Sun2	A	T	15: 79,612,669 (GRCm39)	V417E	probably damaging	Het
Tbccd1	T	C	16: 22,660,519 (GRCm39)	N99S	probably benign	Het
Tex15	A	G	8: 34,064,893 (GRCm39)	D1441G	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Trim32	A	G	4: 65,532,628 (GRCm39)	Y395C	probably benign	Het
Trpm2	A	G	10: 77,759,398 (GRCm39)	Y1129H	probably damaging	Het
Trpm8	A	T	1: 88,275,813 (GRCm39)	R470S	probably damaging	Het
Tsg101	G	T	7: 46,539,372 (GRCm39)	D389E	probably benign	Het
Ubn1	T	C	16: 4,882,406 (GRCm39)	L46P	probably damaging	Het
Ubr5	T	C	15: 37,997,419 (GRCm39)	I1745V	possibly damaging	Het
Usp20	T	C	2: 30,901,797 (GRCm39)	Y521H	probably benign	Het
Vmn1r159	A	T	7: 22,543,019 (GRCm39)	H4Q	probably null	Het
Vmn2r27	T	A	6: 124,177,491 (GRCm39)	E504D	probably benign	Het
Wdr72	A	T	9: 74,086,867 (GRCm39)	I612F	probably benign	Het
Zbtb8a	T	C	4: 129,251,520 (GRCm39)	H317R	possibly damaging	Het
Zfp507	T	C	7: 35,494,315 (GRCm39)	S243G	probably damaging	Het
Zfp764	A	G	7: 127,005,419 (GRCm39)	W73R	probably damaging	Het
Zmym4	A	T	4: 126,819,632 (GRCm39)	D90E	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
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'- TGTAACCCGACATGAAATCGCAGTC -3'
(R):5'- TTCCCAAGCAGGAAGCTTGCAC -3'

Sequencing Primer
(F):5'- GCTAAGGCCATTACCGTGAG -3'
(R):5'- AGGAAGCTTGCACCAGCG -3'

Posted On

2014-01-15