Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Epg5'

180683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

ectopic P-granules autophagy protein 5 homolog (C. elegans)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77985101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1286 (R1286S)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044622
AA Change: R1286S

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

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: R1286S

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,861,423 (GRCm38)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371 (GRCm38)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925 (GRCm38)	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051 (GRCm38)		probably null	Het
C3ar1	T	A	6: 122,851,235 (GRCm38)	T8S	probably benign	Het
Caskin2	T	C	11: 115,804,717 (GRCm38)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399 (GRCm38)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332 (GRCm38)		probably null	Het
Cfap45	T	G	1: 172,534,049 (GRCm38)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376 (GRCm38)	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368 (GRCm38)		probably benign	Het
Col7a1	T	A	9: 108,967,999 (GRCm38)		probably benign	Het
Cops7a	T	C	6: 124,962,416 (GRCm38)	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232 (GRCm38)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069 (GRCm38)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601 (GRCm38)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132 (GRCm38)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249 (GRCm38)	E1009*	probably null	Het
Etv1	T	C	12: 38,835,061 (GRCm38)		probably benign	Het
Exosc7	T	C	9: 123,135,891 (GRCm38)		probably benign	Het
Fam227a	T	C	15: 79,612,546 (GRCm38)	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774 (GRCm38)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065 (GRCm38)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm38)	S79T	probably damaging	Het
Gm10093	T	C	17: 78,492,129 (GRCm38)	V183A	probably damaging	Het
Gpnmb	C	T	6: 49,047,450 (GRCm38)	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067 (GRCm38)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654 (GRCm38)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307 (GRCm38)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339 (GRCm38)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843 (GRCm38)	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384 (GRCm38)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274 (GRCm38)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087 (GRCm38)	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504 (GRCm38)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355 (GRCm38)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376 (GRCm38)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244 (GRCm38)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414 (GRCm38)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607 (GRCm38)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519 (GRCm38)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726 (GRCm38)	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773 (GRCm38)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,558,226 (GRCm38)		probably benign	Het
Nr2e1	T	A	10: 42,567,973 (GRCm38)	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057 (GRCm38)	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403 (GRCm38)	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335 (GRCm38)	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895 (GRCm38)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,479,188 (GRCm38)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,200,194 (GRCm38)	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670 (GRCm38)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689 (GRCm38)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698 (GRCm38)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638 (GRCm38)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434 (GRCm38)	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887 (GRCm38)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564 (GRCm38)	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705 (GRCm38)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814 (GRCm38)	S229N	probably benign	Het
Thsd1	G	A	8: 22,252,231 (GRCm38)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,694,549 (GRCm38)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391 (GRCm38)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420 (GRCm38)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242 (GRCm38)	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128 (GRCm38)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820 (GRCm38)		probably benign	Het
Xrn1	T	C	9: 96,048,344 (GRCm38)	S1535P	probably damaging	Het

Other mutations in Epg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Epg5	APN	18	78,012,741 (GRCm38)	missense	probably damaging	1.00
IGL01778:Epg5	APN	18	78,019,274 (GRCm38)	missense	probably damaging	0.98
IGL02189:Epg5	APN	18	78,012,870 (GRCm38)	missense	probably damaging	0.99
IGL02323:Epg5	APN	18	78,012,832 (GRCm38)	nonsense	probably null
IGL02567:Epg5	APN	18	78,033,073 (GRCm38)	missense	probably damaging	1.00
IGL02805:Epg5	APN	18	78,030,191 (GRCm38)	splice site	probably benign
IGL03282:Epg5	APN	18	77,986,426 (GRCm38)	missense	probably benign	0.25
stitch	UTSW	18	77,948,299 (GRCm38)	nonsense	probably null
R0011:Epg5	UTSW	18	77,948,483 (GRCm38)	missense	probably benign
R0172:Epg5	UTSW	18	78,027,359 (GRCm38)	missense	probably benign	0.00
R0335:Epg5	UTSW	18	77,986,472 (GRCm38)	missense	probably benign	0.25
R0380:Epg5	UTSW	18	77,960,841 (GRCm38)	missense	probably damaging	1.00
R0441:Epg5	UTSW	18	78,023,271 (GRCm38)	splice site	probably benign
R0443:Epg5	UTSW	18	77,955,903 (GRCm38)	splice site	probably benign
R0445:Epg5	UTSW	18	78,014,184 (GRCm38)	missense	possibly damaging	0.87
R0448:Epg5	UTSW	18	78,023,365 (GRCm38)	missense	probably damaging	1.00
R0892:Epg5	UTSW	18	77,968,628 (GRCm38)	missense	possibly damaging	0.94
R1081:Epg5	UTSW	18	77,959,533 (GRCm38)	missense	possibly damaging	0.92
R1183:Epg5	UTSW	18	77,960,711 (GRCm38)	missense	probably damaging	1.00
R1374:Epg5	UTSW	18	77,981,326 (GRCm38)	missense	probably benign
R1428:Epg5	UTSW	18	77,962,427 (GRCm38)	missense	probably damaging	1.00
R1727:Epg5	UTSW	18	78,015,815 (GRCm38)	missense	possibly damaging	0.94
R1780:Epg5	UTSW	18	78,023,990 (GRCm38)	missense	probably damaging	0.99
R1801:Epg5	UTSW	18	77,983,490 (GRCm38)	missense	possibly damaging	0.63
R1864:Epg5	UTSW	18	77,975,031 (GRCm38)	missense	probably damaging	0.99
R1908:Epg5	UTSW	18	77,959,032 (GRCm38)	missense	probably benign	0.26
R1909:Epg5	UTSW	18	77,959,032 (GRCm38)	missense	probably benign	0.26
R1916:Epg5	UTSW	18	77,965,021 (GRCm38)	missense	probably benign	0.00
R1986:Epg5	UTSW	18	77,982,306 (GRCm38)	critical splice acceptor site	probably null
R2048:Epg5	UTSW	18	78,023,987 (GRCm38)	missense	probably damaging	0.98
R2080:Epg5	UTSW	18	77,948,745 (GRCm38)	missense	probably benign	0.01
R2106:Epg5	UTSW	18	77,991,363 (GRCm38)	nonsense	probably null
R2144:Epg5	UTSW	18	77,954,197 (GRCm38)	missense	possibly damaging	0.78
R2151:Epg5	UTSW	18	78,027,302 (GRCm38)	missense	probably benign
R2217:Epg5	UTSW	18	77,949,072 (GRCm38)	missense	probably benign
R2424:Epg5	UTSW	18	77,968,613 (GRCm38)	missense	probably benign	0.05
R2909:Epg5	UTSW	18	77,983,476 (GRCm38)	missense	probably damaging	1.00
R3725:Epg5	UTSW	18	78,017,679 (GRCm38)	missense	probably benign	0.00
R3899:Epg5	UTSW	18	77,957,510 (GRCm38)	missense	probably damaging	1.00
R4019:Epg5	UTSW	18	78,030,450 (GRCm38)	missense	probably damaging	0.98
R4260:Epg5	UTSW	18	78,015,699 (GRCm38)	missense	probably damaging	1.00
R4260:Epg5	UTSW	18	77,959,121 (GRCm38)	missense	possibly damaging	0.50
R4448:Epg5	UTSW	18	77,962,461 (GRCm38)	missense	probably damaging	1.00
R4475:Epg5	UTSW	18	77,948,508 (GRCm38)	missense	probably benign
R4612:Epg5	UTSW	18	77,982,414 (GRCm38)	missense	possibly damaging	0.77
R4666:Epg5	UTSW	18	78,012,864 (GRCm38)	missense	probably benign	0.45
R4767:Epg5	UTSW	18	78,023,283 (GRCm38)	missense	possibly damaging	0.67
R4779:Epg5	UTSW	18	77,991,365 (GRCm38)	missense	probably benign	0.01
R4791:Epg5	UTSW	18	77,948,996 (GRCm38)	nonsense	probably null
R4797:Epg5	UTSW	18	78,030,399 (GRCm38)	missense	probably benign	0.00
R4812:Epg5	UTSW	18	77,979,184 (GRCm38)	missense	probably benign	0.01
R4899:Epg5	UTSW	18	77,985,057 (GRCm38)	missense	probably damaging	1.00
R5000:Epg5	UTSW	18	77,954,161 (GRCm38)	missense	probably benign
R5031:Epg5	UTSW	18	78,028,948 (GRCm38)	missense	probably benign	0.00
R5050:Epg5	UTSW	18	77,975,941 (GRCm38)	missense	possibly damaging	0.55
R5114:Epg5	UTSW	18	77,995,613 (GRCm38)	missense	probably benign
R5144:Epg5	UTSW	18	78,015,680 (GRCm38)	missense	probably damaging	1.00
R5209:Epg5	UTSW	18	77,951,282 (GRCm38)	missense	probably damaging	1.00
R5213:Epg5	UTSW	18	78,014,834 (GRCm38)	missense	probably benign	0.01
R5270:Epg5	UTSW	18	77,983,563 (GRCm38)	missense	possibly damaging	0.79
R5324:Epg5	UTSW	18	77,962,445 (GRCm38)	missense	possibly damaging	0.94
R5443:Epg5	UTSW	18	78,027,497 (GRCm38)	missense	possibly damaging	0.55
R5503:Epg5	UTSW	18	77,951,207 (GRCm38)	missense	possibly damaging	0.81
R5593:Epg5	UTSW	18	77,957,474 (GRCm38)	missense	probably damaging	1.00
R5718:Epg5	UTSW	18	77,986,403 (GRCm38)	missense	probably damaging	1.00
R5773:Epg5	UTSW	18	77,960,825 (GRCm38)	missense	probably damaging	1.00
R5828:Epg5	UTSW	18	78,020,851 (GRCm38)	missense	probably damaging	0.99
R5847:Epg5	UTSW	18	78,030,055 (GRCm38)	missense	probably benign	0.06
R5858:Epg5	UTSW	18	77,948,299 (GRCm38)	nonsense	probably null
R5914:Epg5	UTSW	18	77,959,632 (GRCm38)	critical splice donor site	probably null
R6124:Epg5	UTSW	18	78,030,045 (GRCm38)	missense	probably benign
R6228:Epg5	UTSW	18	77,948,462 (GRCm38)	missense	possibly damaging	0.90
R6252:Epg5	UTSW	18	77,985,167 (GRCm38)	missense	probably damaging	1.00
R6269:Epg5	UTSW	18	77,948,370 (GRCm38)	missense	probably benign
R6312:Epg5	UTSW	18	77,979,211 (GRCm38)	missense	possibly damaging	0.72
R6320:Epg5	UTSW	18	77,962,398 (GRCm38)	missense	probably damaging	1.00
R6328:Epg5	UTSW	18	78,028,964 (GRCm38)	missense	possibly damaging	0.88
R6430:Epg5	UTSW	18	77,975,885 (GRCm38)	missense	probably damaging	1.00
R6458:Epg5	UTSW	18	77,948,254 (GRCm38)	missense	probably benign	0.03
R6852:Epg5	UTSW	18	78,012,891 (GRCm38)	missense	probably damaging	1.00
R6915:Epg5	UTSW	18	77,979,165 (GRCm38)	missense	probably benign	0.00
R6930:Epg5	UTSW	18	78,014,163 (GRCm38)	missense	probably damaging	0.99
R6932:Epg5	UTSW	18	77,948,609 (GRCm38)	missense	probably benign	0.00
R7127:Epg5	UTSW	18	78,028,925 (GRCm38)	missense	probably damaging	1.00
R7207:Epg5	UTSW	18	77,948,955 (GRCm38)	missense	probably damaging	1.00
R7225:Epg5	UTSW	18	78,012,702 (GRCm38)	missense	probably benign	0.45
R7358:Epg5	UTSW	18	77,959,037 (GRCm38)	missense	possibly damaging	0.78
R7414:Epg5	UTSW	18	77,983,532 (GRCm38)	missense	possibly damaging	0.65
R7437:Epg5	UTSW	18	78,023,278 (GRCm38)	missense	probably benign	0.01
R7535:Epg5	UTSW	18	78,032,926 (GRCm38)	missense	probably benign	0.18
R7586:Epg5	UTSW	18	78,030,060 (GRCm38)	missense	probably benign
R7651:Epg5	UTSW	18	77,981,400 (GRCm38)	nonsense	probably null
R7715:Epg5	UTSW	18	77,968,586 (GRCm38)	missense	probably damaging	1.00
R7753:Epg5	UTSW	18	77,948,345 (GRCm38)	missense	possibly damaging	0.92
R7981:Epg5	UTSW	18	78,009,714 (GRCm38)	critical splice donor site	probably null
R8114:Epg5	UTSW	18	78,030,150 (GRCm38)	missense	probably benign	0.41
R8124:Epg5	UTSW	18	77,964,996 (GRCm38)	missense	probably benign	0.05
R8307:Epg5	UTSW	18	78,022,679 (GRCm38)	missense	probably damaging	1.00
R8458:Epg5	UTSW	18	77,948,731 (GRCm38)	missense	probably benign	0.00
R8751:Epg5	UTSW	18	77,965,010 (GRCm38)	missense	probably benign	0.28
R8751:Epg5	UTSW	18	77,965,009 (GRCm38)	missense	possibly damaging	0.65
R8751:Epg5	UTSW	18	77,965,008 (GRCm38)	missense	probably benign	0.07
R8888:Epg5	UTSW	18	78,012,871 (GRCm38)	missense	possibly damaging	0.76
R8971:Epg5	UTSW	18	77,979,219 (GRCm38)	missense	probably damaging	1.00
R9045:Epg5	UTSW	18	77,948,799 (GRCm38)	missense	probably damaging	1.00
R9291:Epg5	UTSW	18	78,012,850 (GRCm38)	nonsense	probably null
R9327:Epg5	UTSW	18	77,948,220 (GRCm38)	missense	probably benign	0.00
R9365:Epg5	UTSW	18	77,954,742 (GRCm38)	missense	probably damaging	1.00
R9742:Epg5	UTSW	18	77,980,955 (GRCm38)	missense	probably damaging	1.00
X0023:Epg5	UTSW	18	77,968,657 (GRCm38)	missense	probably damaging	0.99
X0060:Epg5	UTSW	18	77,962,485 (GRCm38)	missense	possibly damaging	0.94
Z1088:Epg5	UTSW	18	77,959,139 (GRCm38)	missense	probably benign	0.00

Posted On

2014-05-07