Incidental Mutation 'IGL02323:Epg5'
ID288323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epg5
Ensembl Gene ENSMUSG00000039840
Gene Nameectopic P-granules autophagy protein 5 homolog (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL02323
Quality Score
Status
Chromosome18
Chromosomal Location77938467-78035027 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 78012832 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 1740 (Y1740*)
Ref Sequence ENSEMBL: ENSMUSP00000038681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044622]
Predicted Effect probably null
Transcript: ENSMUST00000044622
AA Change: Y1740*
SMART Domains Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: Y1740*

DomainStartEndE-ValueType
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,291,064 E344G probably damaging Het
Actrt2 T C 4: 154,666,798 T294A probably benign Het
Afg1l C A 10: 42,454,510 E54* probably null Het
Ahi1 T C 10: 20,972,034 I447T probably damaging Het
Akap6 T C 12: 53,140,429 I1542T probably benign Het
Ankrd34c A C 9: 89,729,980 S103A possibly damaging Het
Apc C T 18: 34,315,810 Q1886* probably null Het
Bcas3 A G 11: 85,495,845 T148A probably damaging Het
Bud13 A G 9: 46,283,052 T8A probably benign Het
Casr A T 16: 36,509,710 Y421N probably damaging Het
Cd163l1 G T 7: 140,228,659 A828S probably benign Het
Clasp2 T C 9: 113,868,726 probably benign Het
Clca4b T C 3: 144,913,321 T686A probably benign Het
Cntln T A 4: 85,049,789 H748Q probably benign Het
D430042O09Rik T A 7: 125,842,829 S637T probably benign Het
Dmtf1 A T 5: 9,120,056 D683E possibly damaging Het
Dnmt3l A G 10: 78,063,318 K117R probably damaging Het
Eif2a T C 3: 58,548,603 M341T possibly damaging Het
Fam149b C T 14: 20,363,301 T157I possibly damaging Het
Fam89b A G 19: 5,728,871 probably null Het
Fbxo3 T A 2: 104,047,951 N232K probably benign Het
Gm5415 A T 1: 32,545,704 L375* probably null Het
Gm6588 A G 5: 112,449,734 Y49C probably benign Het
Gnl3 A C 14: 31,017,402 H16Q probably damaging Het
Gpld1 T G 13: 24,982,774 V669G probably damaging Het
Grik3 A G 4: 125,685,990 probably benign Het
Gzmg A C 14: 56,157,272 Y180D probably benign Het
H2-M9 A T 17: 36,640,741 Y281N probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mrs2 T A 13: 25,004,957 I125F probably damaging Het
Nfam1 T A 15: 83,022,951 N15I probably benign Het
Nol8 T A 13: 49,655,245 probably benign Het
Obscn A G 11: 59,008,522 V6483A possibly damaging Het
Olfr444 A T 6: 42,955,983 I162F probably benign Het
Osbpl3 A G 6: 50,346,326 probably null Het
Pla2g16 G A 19: 7,574,992 W24* probably null Het
Ppfibp2 A T 7: 107,738,629 Q652H probably damaging Het
Rbm47 A G 5: 66,026,429 V277A probably damaging Het
Robo3 G A 9: 37,422,201 A716V probably benign Het
Slc29a4 A G 5: 142,717,652 E227G probably damaging Het
Slf1 T C 13: 77,051,294 D656G possibly damaging Het
Sox1 A G 8: 12,396,692 H111R possibly damaging Het
Svep1 G A 4: 58,070,236 Q2517* probably null Het
Syndig1 G T 2: 149,899,787 V98L probably benign Het
Synpo2 T C 3: 123,117,534 E154G probably benign Het
Tex37 A G 6: 70,913,695 probably benign Het
Tkt G A 14: 30,571,035 G490S possibly damaging Het
Tmem200a T C 10: 25,993,430 N314D probably benign Het
Tnfaip8l1 A T 17: 56,172,009 T100S probably damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trim12c C T 7: 104,348,266 A28T probably benign Het
Trpc7 C A 13: 56,783,751 V595L possibly damaging Het
Ttc39c A G 18: 12,736,743 R575G probably null Het
Ttn T G 2: 76,851,575 probably benign Het
Ttn C T 2: 76,723,265 V31003M probably damaging Het
Ugt2b37 A T 5: 87,250,564 probably benign Het
Uqcrb A T 13: 66,902,810 probably benign Het
Usp33 T A 3: 152,370,387 W415R probably benign Het
Vmn2r110 A T 17: 20,596,137 D41E probably damaging Het
Vmn2r98 A T 17: 19,065,851 I204F probably damaging Het
Other mutations in Epg5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 78015699 missense probably damaging 1.00
R4260:Epg5 UTSW 18 77959121 missense possibly damaging 0.50
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
R6228:Epg5 UTSW 18 77948462 missense possibly damaging 0.90
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
R7753:Epg5 UTSW 18 77948345 missense possibly damaging 0.92
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
Posted On2015-04-16