Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Epg5'

210105

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

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

Synonyms

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77959032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 555 (D555E)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably benign
Transcript: ENSMUST00000044622
AA Change: D555E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: D555E

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,957,098 (GRCm38)	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Alg11	T	G	8: 22,065,568 (GRCm38)	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624 (GRCm38)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844 (GRCm38)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763 (GRCm38)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259 (GRCm38)	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148 (GRCm38)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090 (GRCm38)		probably null	Het
Btnl10	C	A	11: 58,920,541 (GRCm38)	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489 (GRCm38)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,226,575 (GRCm38)	D292E	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cic	C	A	7: 25,286,840 (GRCm38)	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749 (GRCm38)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699 (GRCm38)	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494 (GRCm38)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369 (GRCm38)	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558 (GRCm38)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562 (GRCm38)	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629 (GRCm38)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455 (GRCm38)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817 (GRCm38)	G461V	possibly damaging	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Garre1	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
Gm10684	A	G	9: 45,110,213 (GRCm38)		probably benign	Het
Gm12185	T	C	11: 48,915,404 (GRCm38)	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476 (GRCm38)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837 (GRCm38)	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556 (GRCm38)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684 (GRCm38)	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124 (GRCm38)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910 (GRCm38)		probably null	Het
Hs3st6	A	G	17: 24,758,136 (GRCm38)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511 (GRCm38)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144 (GRCm38)	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841 (GRCm38)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834 (GRCm38)	I58F	probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222 (GRCm38)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023 (GRCm38)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,453,838 (GRCm38)	M262K	probably damaging	Het
Or13a27	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Or2r11	C	T	6: 42,460,426 (GRCm38)	V198M	probably benign	Het
Or2t26	A	C	11: 49,148,274 (GRCm38)	N6H	possibly damaging	Het
Or4c115	G	A	2: 89,097,544 (GRCm38)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,974,059 (GRCm38)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,289,068 (GRCm38)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685 (GRCm38)	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148 (GRCm38)	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720 (GRCm38)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277 (GRCm38)	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990 (GRCm38)	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904 (GRCm38)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308 (GRCm38)	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497 (GRCm38)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,281,988 (GRCm38)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm38)	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Ssu2	A	T	6: 112,384,427 (GRCm38)	L23M	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279 (GRCm38)		probably null	Het
Tekt1	T	C	11: 72,351,935 (GRCm38)	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692 (GRCm38)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109 (GRCm38)	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107 (GRCm38)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207 (GRCm38)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559 (GRCm38)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545 (GRCm38)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041 (GRCm38)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442 (GRCm38)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570 (GRCm38)	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230 (GRCm38)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220 (GRCm38)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898 (GRCm38)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548 (GRCm38)	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155 (GRCm38)	P191L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTCTGAACTATGGATATGAAC -3'
(R):5'- TTTTGCACGGGTGGACACAG -3'

Sequencing Primer
(F):5'- CTGAACTATGGATATGAACCAGGTAC -3'
(R):5'- TGGACACAGGGCATGCTG -3'

Posted On

2014-06-30