Mutagenetix > Incidental Mutations

Incidental Mutation 'R6228:Epg5'

504520

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

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

Synonyms

MMRRC Submission

044357-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77948462 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 125 (V125F)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044622
AA Change: V125F

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: V125F

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

Meta Mutation Damage Score

0.1108

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 46,030,256	T9K	probably benign	Het
Ankrd28	T	C	14: 31,707,220	H925R	probably damaging	Het
Antxrl	A	T	14: 34,056,599	T128S	probably damaging	Het
Atp8b5	T	C	4: 43,304,674	Y62H	probably damaging	Het
AU019823	A	G	9: 50,607,671	S214P	possibly damaging	Het
Bmpr2	G	T	1: 59,867,436	V563L	probably benign	Het
Btn1a1	A	T	13: 23,464,351	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,507,180	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,351,213	I150N	probably damaging	Het
Cdc26	C	T	4: 62,402,794	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,656,580	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,592,183		probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dgat1	T	C	15: 76,503,293	N317S	possibly damaging	Het
Disp1	G	A	1: 183,099,025	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,703,356		probably null	Het
Dnase1l2	C	A	17: 24,442,518		probably benign	Het
Dsg2	T	C	18: 20,594,293		probably null	Het
Duox2	A	T	2: 122,287,193	F887I	probably benign	Het
Efcab6	T	C	15: 83,967,624	D351G	possibly damaging	Het
Ep400	A	G	5: 110,670,942	V2621A	probably damaging	Het
Ephb1	T	C	9: 101,923,584	R953G	probably damaging	Het
Etfdh	G	T	3: 79,612,029	Y272*	probably null	Het
Fam117b	A	G	1: 59,969,048	E347G	probably damaging	Het
Fam214a	A	G	9: 75,006,363	M100V	possibly damaging	Het
Gfra3	A	T	18: 34,695,793	C183S	probably damaging	Het
Gm4981	A	G	10: 58,235,522	M290T	probably benign	Het
Gmip	A	G	8: 69,816,123	D466G	probably damaging	Het
Golga5	G	A	12: 102,484,481	M464I	probably benign	Het
Gpd1	A	T	15: 99,723,265	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,093,877	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,346,038	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,765,353	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,336,097	M31V	possibly damaging	Het
Itih1	T	C	14: 30,931,260	D737G	probably benign	Het
Kcnc4	G	C	3: 107,448,377	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,819,497	T195S	probably damaging	Het
Limch1	A	T	5: 67,016,502	D642V	probably damaging	Het
Lrp2	T	G	2: 69,482,366	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,256,553	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Lypd8	A	T	11: 58,386,803	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,260,063	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,271,304	G483D	probably benign	Het
Mrpl35	C	A	6: 71,823,677		probably benign	Het
Mycbp2	T	A	14: 103,260,229	H936L	probably benign	Het
Myh3	A	T	11: 67,087,486	Y433F	probably benign	Het
Napb	C	T	2: 148,698,178		probably null	Het
Nbeal1	C	A	1: 60,295,924	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,671,652	Q224*	probably null	Het
Nkd2	A	G	13: 73,821,460	S284P	probably benign	Het
Olfr1100	T	C	2: 86,978,691	Y35C	probably damaging	Het
Olfr1448	A	T	19: 12,919,937	V124E	probably damaging	Het
Olfr420	G	A	1: 174,152,146	S210N	probably benign	Het
Olfr714	T	C	7: 107,074,136	Y103H	probably damaging	Het
Pcdhb8	A	G	18: 37,356,984	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,402,062	I370V	probably benign	Het
Pcsk5	T	G	19: 17,581,267	E592A	possibly damaging	Het
Pigc	T	C	1: 161,970,467	V6A	probably benign	Het
Pla2g6	T	G	15: 79,305,724	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,763,442		probably null	Het
Psmb11	T	C	14: 54,626,189	V288A	probably benign	Het
Rapgef5	A	G	12: 117,721,663		probably null	Het
Rcn3	T	C	7: 45,083,296	N316S	probably damaging	Het
Rgs6	A	G	12: 83,065,964	K183E	probably damaging	Het
Rhoc	A	G	3: 104,792,981		probably null	Het
Serinc5	T	C	13: 92,708,108	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,116,399	M93R	probably damaging	Het
Slc25a3	A	T	10: 91,122,228	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,124,951	Y459C	probably benign	Het
Slc44a5	A	T	3: 154,239,163	Y139F	probably benign	Het
Spag17	A	T	3: 100,022,602	Q539L	probably benign	Het
Stap2	C	T	17: 55,999,976	V234M	probably damaging	Het
Stard9	A	G	2: 120,713,750	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,778,666	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,182,903	V501I	probably damaging	Het
Thap2	T	C	10: 115,372,846	H123R	probably damaging	Het
Tlx3	C	A	11: 33,202,432	W221L	probably benign	Het
Tmem262	T	A	19: 6,080,537		probably null	Het
Tpmt	C	A	13: 47,027,259	R201S	probably benign	Het
Trpm6	T	C	19: 18,854,291	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,818,483	E64G	possibly damaging	Het
Ttn	A	T	2: 76,810,446	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,640	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,076,463	N224K	probably benign	Het
Vmn2r59	C	T	7: 42,042,411		probably null	Het
Wdfy3	A	G	5: 101,898,429	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,842,006	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,956,355	D324G	probably benign	Het
Zfp217	T	C	2: 170,119,577	T277A	probably benign	Het
Zfp451	A	G	1: 33,803,138		probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp871	T	C	17: 32,775,884	S106G	possibly damaging	Het

Other mutations in Epg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Epg5	APN	18	78012741	missense	probably damaging	1.00
IGL01778:Epg5	APN	18	78019274	missense	probably damaging	0.98
IGL01936:Epg5	APN	18	77985101	missense	probably damaging	1.00
IGL02189:Epg5	APN	18	78012870	missense	probably damaging	0.99
IGL02323:Epg5	APN	18	78012832	nonsense	probably null
IGL02567:Epg5	APN	18	78033073	missense	probably damaging	1.00
IGL02805:Epg5	APN	18	78030191	splice site	probably benign
IGL03282:Epg5	APN	18	77986426	missense	probably benign	0.25
stitch	UTSW	18	77948299	nonsense	probably null
R0011:Epg5	UTSW	18	77948483	missense	probably benign
R0172:Epg5	UTSW	18	78027359	missense	probably benign	0.00
R0335:Epg5	UTSW	18	77986472	missense	probably benign	0.25
R0380:Epg5	UTSW	18	77960841	missense	probably damaging	1.00
R0441:Epg5	UTSW	18	78023271	splice site	probably benign
R0443:Epg5	UTSW	18	77955903	splice site	probably benign
R0445:Epg5	UTSW	18	78014184	missense	possibly damaging	0.87
R0448:Epg5	UTSW	18	78023365	missense	probably damaging	1.00
R0892:Epg5	UTSW	18	77968628	missense	possibly damaging	0.94
R1081:Epg5	UTSW	18	77959533	missense	possibly damaging	0.92
R1183:Epg5	UTSW	18	77960711	missense	probably damaging	1.00
R1374:Epg5	UTSW	18	77981326	missense	probably benign
R1428:Epg5	UTSW	18	77962427	missense	probably damaging	1.00
R1727:Epg5	UTSW	18	78015815	missense	possibly damaging	0.94
R1780:Epg5	UTSW	18	78023990	missense	probably damaging	0.99
R1801:Epg5	UTSW	18	77983490	missense	possibly damaging	0.63
R1864:Epg5	UTSW	18	77975031	missense	probably damaging	0.99
R1908:Epg5	UTSW	18	77959032	missense	probably benign	0.26
R1909:Epg5	UTSW	18	77959032	missense	probably benign	0.26
R1916:Epg5	UTSW	18	77965021	missense	probably benign	0.00
R1986:Epg5	UTSW	18	77982306	critical splice acceptor site	probably null
R2048:Epg5	UTSW	18	78023987	missense	probably damaging	0.98
R2080:Epg5	UTSW	18	77948745	missense	probably benign	0.01
R2106:Epg5	UTSW	18	77991363	nonsense	probably null
R2144:Epg5	UTSW	18	77954197	missense	possibly damaging	0.78
R2151:Epg5	UTSW	18	78027302	missense	probably benign
R2217:Epg5	UTSW	18	77949072	missense	probably benign
R2424:Epg5	UTSW	18	77968613	missense	probably benign	0.05
R2909:Epg5	UTSW	18	77983476	missense	probably damaging	1.00
R3725:Epg5	UTSW	18	78017679	missense	probably benign	0.00
R3899:Epg5	UTSW	18	77957510	missense	probably damaging	1.00
R4019:Epg5	UTSW	18	78030450	missense	probably damaging	0.98
R4260:Epg5	UTSW	18	77959121	missense	possibly damaging	0.50
R4260:Epg5	UTSW	18	78015699	missense	probably damaging	1.00
R4448:Epg5	UTSW	18	77962461	missense	probably damaging	1.00
R4475:Epg5	UTSW	18	77948508	missense	probably benign
R4612:Epg5	UTSW	18	77982414	missense	possibly damaging	0.77
R4666:Epg5	UTSW	18	78012864	missense	probably benign	0.45
R4767:Epg5	UTSW	18	78023283	missense	possibly damaging	0.67
R4779:Epg5	UTSW	18	77991365	missense	probably benign	0.01
R4791:Epg5	UTSW	18	77948996	nonsense	probably null
R4797:Epg5	UTSW	18	78030399	missense	probably benign	0.00
R4812:Epg5	UTSW	18	77979184	missense	probably benign	0.01
R4899:Epg5	UTSW	18	77985057	missense	probably damaging	1.00
R5000:Epg5	UTSW	18	77954161	missense	probably benign
R5031:Epg5	UTSW	18	78028948	missense	probably benign	0.00
R5050:Epg5	UTSW	18	77975941	missense	possibly damaging	0.55
R5114:Epg5	UTSW	18	77995613	missense	probably benign
R5144:Epg5	UTSW	18	78015680	missense	probably damaging	1.00
R5209:Epg5	UTSW	18	77951282	missense	probably damaging	1.00
R5213:Epg5	UTSW	18	78014834	missense	probably benign	0.01
R5270:Epg5	UTSW	18	77983563	missense	possibly damaging	0.79
R5324:Epg5	UTSW	18	77962445	missense	possibly damaging	0.94
R5443:Epg5	UTSW	18	78027497	missense	possibly damaging	0.55
R5503:Epg5	UTSW	18	77951207	missense	possibly damaging	0.81
R5593:Epg5	UTSW	18	77957474	missense	probably damaging	1.00
R5718:Epg5	UTSW	18	77986403	missense	probably damaging	1.00
R5773:Epg5	UTSW	18	77960825	missense	probably damaging	1.00
R5828:Epg5	UTSW	18	78020851	missense	probably damaging	0.99
R5847:Epg5	UTSW	18	78030055	missense	probably benign	0.06
R5858:Epg5	UTSW	18	77948299	nonsense	probably null
R5914:Epg5	UTSW	18	77959632	critical splice donor site	probably null
R6124:Epg5	UTSW	18	78030045	missense	probably benign
R6252:Epg5	UTSW	18	77985167	missense	probably damaging	1.00
R6269:Epg5	UTSW	18	77948370	missense	probably benign
R6312:Epg5	UTSW	18	77979211	missense	possibly damaging	0.72
R6320:Epg5	UTSW	18	77962398	missense	probably damaging	1.00
R6328:Epg5	UTSW	18	78028964	missense	possibly damaging	0.88
R6430:Epg5	UTSW	18	77975885	missense	probably damaging	1.00
R6458:Epg5	UTSW	18	77948254	missense	probably benign	0.03
R6852:Epg5	UTSW	18	78012891	missense	probably damaging	1.00
R6915:Epg5	UTSW	18	77979165	missense	probably benign	0.00
R6930:Epg5	UTSW	18	78014163	missense	probably damaging	0.99
R6932:Epg5	UTSW	18	77948609	missense	probably benign	0.00
R7127:Epg5	UTSW	18	78028925	missense	probably damaging	1.00
R7207:Epg5	UTSW	18	77948955	missense	probably damaging	1.00
R7225:Epg5	UTSW	18	78012702	missense	probably benign	0.45
R7358:Epg5	UTSW	18	77959037	missense	possibly damaging	0.78
R7414:Epg5	UTSW	18	77983532	missense	possibly damaging	0.65
R7437:Epg5	UTSW	18	78023278	missense	probably benign	0.01
R7535:Epg5	UTSW	18	78032926	missense	probably benign	0.18
R7586:Epg5	UTSW	18	78030060	missense	probably benign
R7651:Epg5	UTSW	18	77981400	nonsense	probably null
R7715:Epg5	UTSW	18	77968586	missense	probably damaging	1.00
X0023:Epg5	UTSW	18	77968657	missense	probably damaging	0.99
X0060:Epg5	UTSW	18	77962485	missense	possibly damaging	0.94
Z1088:Epg5	UTSW	18	77959139	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAAAGGAGATGACCTGAAGTCG -3'
(R):5'- ACACCTTTGAACAGCCGAGG -3'

Sequencing Primer
(F):5'- ACCTGAAGTCGTCTGCTGAC -3'
(R):5'- AGGGCGGCTTCATCTTGC -3'

Posted On

2018-02-28