Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Epg5'

229450

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

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

Synonyms

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77948745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 219 (I219T)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably benign
Transcript: ENSMUST00000044622
AA Change: I219T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: I219T

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

0.0627

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933 (GRCm38)	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719 (GRCm38)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604 (GRCm38)	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094 (GRCm38)	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280 (GRCm38)	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327 (GRCm38)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148 (GRCm38)	A123V	probably benign	Het
Car6	T	C	4: 150,198,141 (GRCm38)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096 (GRCm38)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537 (GRCm38)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816 (GRCm38)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206 (GRCm38)	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962 (GRCm38)	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100 (GRCm38)	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306 (GRCm38)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468 (GRCm38)	I337L	possibly damaging	Het
Gm13030	T	C	4: 138,873,419 (GRCm38)		probably benign	Het
Gm1527	T	A	3: 28,926,661 (GRCm38)	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949 (GRCm38)	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291 (GRCm38)	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552 (GRCm38)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717 (GRCm38)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960 (GRCm38)	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527 (GRCm38)	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959 (GRCm38)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824 (GRCm38)	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754 (GRCm38)	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941 (GRCm38)		probably null	Het
Naip5	A	G	13: 100,221,533 (GRCm38)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm38)		probably benign	Het
Nemf	A	G	12: 69,353,786 (GRCm38)		probably benign	Het
Nfil3	A	T	13: 52,968,033 (GRCm38)	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424 (GRCm38)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393 (GRCm38)	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436 (GRCm38)	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739 (GRCm38)	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568 (GRCm38)	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243 (GRCm38)	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082 (GRCm38)	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123 (GRCm38)	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013 (GRCm38)		probably benign	Het
Ppm1f	T	A	16: 16,923,880 (GRCm38)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847 (GRCm38)	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505 (GRCm38)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376 (GRCm38)	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445 (GRCm38)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774 (GRCm38)	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082 (GRCm38)	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325 (GRCm38)	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487 (GRCm38)	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667 (GRCm38)	D480A	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
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
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'- ACACTGCAGCCTGACTTTC -3'
(R):5'- AACTCGTGTCTGTCCTGATGAG -3'

Sequencing Primer
(F):5'- AGCCTGACTTTCCCTGCAC -3'
(R):5'- CTGTCCTGATGAGCAATGTTATC -3'

Posted On

2014-09-17