Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:Epg5'

453702

Institutional Source

Beutler Lab

Gene Symbol

Epg5

Ensembl Gene

ENSMUSG00000039840

Gene Name

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

Synonyms

MMRRC Submission

044065-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5847 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

77938467-78035027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78030055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2431 (V2431A)

Ref Sequence

ENSEMBL: ENSMUSP00000038681 (fasta)

Gene Model

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

AlphaFold

Q80TA9

Predicted Effect

probably benign
Transcript: ENSMUST00000044622
AA Change: V2431A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: V2431A

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

0.0873

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

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
1600015I10Rik	T	A	6: 48,933,478 (GRCm38)	F701L	probably damaging	Het
4931409K22Rik	A	T	5: 24,544,166 (GRCm38)	L778Q	probably benign	Het
Adgrg6	T	A	10: 14,426,777 (GRCm38)	Y964F	probably damaging	Het
Akap3	T	A	6: 126,865,558 (GRCm38)	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,680,074 (GRCm38)	I760T	probably benign	Het
Arhgap20	G	A	9: 51,824,976 (GRCm38)		probably benign	Het
Cacng3	T	C	7: 122,762,309 (GRCm38)	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,627,480 (GRCm38)	N955K	probably benign	Het
Ccdc63	T	A	5: 122,116,845 (GRCm38)	M368L	possibly damaging	Het
Cnot2	T	C	10: 116,527,946 (GRCm38)	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,973,837 (GRCm38)	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,011,732 (GRCm38)	R433W	probably damaging	Het
Dact2	A	G	17: 14,199,188 (GRCm38)	S103P	probably damaging	Het
Dek	A	G	13: 47,101,601 (GRCm38)		probably benign	Het
Dnah9	CAGTTGCTTAAA	CA	11: 66,095,240 (GRCm38)		probably null	Het
Dock4	A	G	12: 40,621,251 (GRCm38)	Y23C	probably damaging	Het
Edar	T	A	10: 58,603,179 (GRCm38)	S344C	probably damaging	Het
Evc2	C	T	5: 37,404,724 (GRCm38)		probably benign	Het
Idh3b	A	T	2: 130,284,028 (GRCm38)	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,216,972 (GRCm38)	V84D	probably damaging	Het
Mgam	T	C	6: 40,684,055 (GRCm38)	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,482,925 (GRCm38)	V1116A	probably damaging	Het
Myoc	A	G	1: 162,639,367 (GRCm38)	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,344,574 (GRCm38)	D246V	probably benign	Het
Nphp3	A	G	9: 104,003,037 (GRCm38)	E86G	probably damaging	Het
Olfr1097	A	C	2: 86,890,332 (GRCm38)	V281G	probably damaging	Het
Olfr168	A	T	16: 19,530,326 (GRCm38)	V198E	probably damaging	Het
Olfr678	A	T	7: 105,069,857 (GRCm38)	Y130F	probably benign	Het
Pbld1	A	T	10: 63,076,414 (GRCm38)	I275L	probably benign	Het
Pde12	A	G	14: 26,665,631 (GRCm38)	V574A	possibly damaging	Het
Pdxk	G	T	10: 78,445,038 (GRCm38)	D189E	probably benign	Het
Pkhd1	C	A	1: 20,374,736 (GRCm38)	E2276*	probably null	Het
Ppp1r10	A	G	17: 35,926,847 (GRCm38)	N237S	possibly damaging	Het
Rheb	T	A	5: 24,807,069 (GRCm38)	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 91,304,985 (GRCm38)	D88G	probably damaging	Het
Scgb2b33	T	C	7: 33,112,814 (GRCm38)		noncoding transcript	Het
Snx9	C	A	17: 5,924,621 (GRCm38)	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,209,724 (GRCm38)	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,636,605 (GRCm38)	E615K	possibly damaging	Het
Tmem51	A	G	4: 142,032,035 (GRCm38)	M134T	probably damaging	Het
Tox4	A	G	14: 52,286,784 (GRCm38)	D125G	probably damaging	Het
Trappc3	A	T	4: 126,273,978 (GRCm38)	N110I	probably damaging	Het
Trim11	T	A	11: 58,990,593 (GRCm38)	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,596 (GRCm38)	N196S	probably benign	Het
Wnk1	C	A	6: 119,992,408 (GRCm38)	G362V	probably damaging	Het
Wwc1	A	G	11: 35,867,326 (GRCm38)	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174 (GRCm38)	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,018,038 (GRCm38)	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,923,216 (GRCm38)	E294G	probably damaging	Het
Zfp853	C	T	5: 143,288,669 (GRCm38)	V399M	unknown	Het
Zfp868	T	C	8: 69,611,652 (GRCm38)	H344R	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
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
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'- ATCCCTTTGCCTGGCGTATG -3'
(R):5'- TACTACATGCCTGCACTGCAC -3'

Sequencing Primer
(F):5'- AGAAATCCGCCTGCCTCTG -3'
(R):5'- TGCACCTCTATCAGCAGCAG -3'

Posted On

2017-02-10