Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03282:Epg5'

415623

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 #

IGL03282

Quality Score

Status

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77986426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1335 (S1335G)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably benign
Transcript: ENSMUST00000044622
AA Change: S1335G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: S1335G

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 69,954,464 (GRCm38)	I333M	possibly damaging	Het
Atxn2	A	G	5: 121,785,235 (GRCm38)	T52A	probably benign	Het
Atxn7	T	A	14: 14,100,564 (GRCm38)	L750H	probably damaging	Het
Cadps	T	C	14: 12,465,856 (GRCm38)		probably benign	Het
Cts6	T	A	13: 61,196,447 (GRCm38)	I264F	possibly damaging	Het
Dnah6	G	T	6: 73,053,647 (GRCm38)		probably benign	Het
Gm10073	A	T	8: 106,573,340 (GRCm38)	V4D	probably benign	Het
Gpld1	T	A	13: 24,971,408 (GRCm38)	M342K	probably benign	Het
Herc1	T	A	9: 66,451,459 (GRCm38)	F2607L	probably benign	Het
Ighv2-9-1	T	C	12: 113,769,865 (GRCm38)	Y112C	probably damaging	Het
Itga4	A	T	2: 79,325,594 (GRCm38)	H968L	probably damaging	Het
Me1	C	T	9: 86,613,596 (GRCm38)	R286Q	probably damaging	Het
Med1	G	A	11: 98,156,817 (GRCm38)	T1051M	probably damaging	Het
Msh2	T	G	17: 87,689,002 (GRCm38)	D379E	probably benign	Het
Mup4	T	A	4: 59,958,547 (GRCm38)	M118L	possibly damaging	Het
Ostm1	A	T	10: 42,698,231 (GRCm38)	S152C	probably damaging	Het
Pla2g1b	A	G	5: 115,470,880 (GRCm38)	N45D	probably damaging	Het
Rab21	A	G	10: 115,298,898 (GRCm38)		probably benign	Het
Rapgef4	G	A	2: 72,205,752 (GRCm38)		probably benign	Het
Slc38a8	G	T	8: 119,499,716 (GRCm38)	N111K	probably damaging	Het
Snrnp35	A	G	5: 124,490,309 (GRCm38)	T62A	probably damaging	Het
Strn3	T	C	12: 51,627,209 (GRCm38)	I540V	probably benign	Het
Tgm1	A	G	14: 55,711,070 (GRCm38)	V208A	probably damaging	Het
Vmn1r62	A	T	7: 5,675,548 (GRCm38)	D76V	possibly damaging	Het
Vmn1r90	A	T	7: 14,562,168 (GRCm38)	S2T	possibly damaging	Het
Vmn1r90	T	A	7: 14,561,501 (GRCm38)	H224L	probably benign	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
IGL01936:Epg5	APN	18	77,985,101 (GRCm38)	missense	probably damaging	1.00
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
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

2016-08-02