Incidental Mutation 'R1727:Epg5'
ID 198290
Institutional Source Beutler Lab
Gene Symbol Epg5
Ensembl Gene ENSMUSG00000039840
Gene Name ectopic P-granules 5 autophagy tethering factor
Synonyms 5430411K18Rik
MMRRC Submission 039759-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R1727 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 77981680-78078228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78059030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1928 (V1928E)
Ref Sequence ENSEMBL: ENSMUSP00000038681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044622]
AlphaFold Q80TA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000044622
AA Change: V1928E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: V1928E

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
Meta Mutation Damage Score 0.3379 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency 96% (98/102)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,565,472 (GRCm39) probably benign Het
Ak2 C T 4: 128,901,556 (GRCm39) P159L probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Akr1a1 A G 4: 116,498,248 (GRCm39) L99P probably damaging Het
Anxa8 T A 14: 33,811,547 (GRCm39) M34K probably damaging Het
Axl T G 7: 25,460,191 (GRCm39) D767A possibly damaging Het
B430305J03Rik A G 3: 61,271,299 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,095 (GRCm39) Y182* probably null Het
Cdk5rap2 T C 4: 70,190,916 (GRCm39) D1043G probably benign Het
Cdk5rap2 A T 4: 70,208,209 (GRCm39) S746T possibly damaging Het
Cep120 T C 18: 53,860,801 (GRCm39) M210V probably benign Het
Chga C T 12: 102,527,696 (GRCm39) H117Y possibly damaging Het
Cnga4 T C 7: 105,054,961 (GRCm39) W79R probably damaging Het
Cntnap5b C T 1: 100,141,469 (GRCm39) T575I possibly damaging Het
Col6a3 T A 1: 90,724,296 (GRCm39) probably null Het
Copz2 T C 11: 96,744,301 (GRCm39) V71A probably benign Het
Dennd3 G T 15: 73,436,977 (GRCm39) R1068L possibly damaging Het
Dhrs7 T C 12: 72,706,238 (GRCm39) T56A probably damaging Het
Dnah17 G A 11: 117,961,315 (GRCm39) T2557I probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dynlt2b T A 16: 32,241,751 (GRCm39) M78K probably benign Het
Eif3b T C 5: 140,411,077 (GRCm39) I176T probably damaging Het
Eif4b T A 15: 101,998,497 (GRCm39) D392E possibly damaging Het
Eif4h T C 5: 134,668,134 (GRCm39) Y7C probably damaging Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Erbin T A 13: 103,964,476 (GRCm39) E1222V probably benign Het
Fhdc1 T A 3: 84,353,483 (GRCm39) I581F possibly damaging Het
Fhip2b C A 14: 70,831,438 (GRCm39) G32V probably damaging Het
Fstl4 A C 11: 52,959,478 (GRCm39) Q173P probably damaging Het
Gm266 A G 12: 111,451,913 (GRCm39) F98L possibly damaging Het
Gsdmc2 T C 15: 63,721,628 (GRCm39) probably benign Het
Gtf2h3 A G 5: 124,728,419 (GRCm39) Q156R probably benign Het
H2-T23 T C 17: 36,342,545 (GRCm39) T198A possibly damaging Het
Il1r1 C A 1: 40,332,424 (GRCm39) A68E probably benign Het
Kcna7 A T 7: 45,058,930 (GRCm39) I406F possibly damaging Het
Lbr A G 1: 181,647,481 (GRCm39) I432T probably benign Het
Lnx1 A T 5: 74,768,577 (GRCm39) probably null Het
Lrrcc1 T A 3: 14,602,423 (GRCm39) I50N probably damaging Het
Lss T C 10: 76,375,678 (GRCm39) V237A possibly damaging Het
Mcm10 A G 2: 5,011,336 (GRCm39) F212L probably benign Het
Methig1 A C 15: 100,251,130 (GRCm39) I14L probably benign Het
Mrpl41 A T 2: 24,864,636 (GRCm39) V55E probably damaging Het
Mtfp1 C A 11: 4,043,982 (GRCm39) D83Y probably damaging Het
Myh1 T A 11: 67,101,292 (GRCm39) probably benign Het
Myo1e T C 9: 70,283,806 (GRCm39) F834S possibly damaging Het
Ndufs7 A T 10: 80,091,853 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,420 (GRCm39) N302K probably benign Het
Nt5e T A 9: 88,210,082 (GRCm39) M115K possibly damaging Het
Nup153 A T 13: 46,847,261 (GRCm39) C723S probably damaging Het
Obox6 G A 7: 15,568,502 (GRCm39) P125S probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2t48 A T 11: 58,420,342 (GRCm39) S157T possibly damaging Het
Or52n3 C T 7: 104,530,721 (GRCm39) T269I probably benign Het
Or5an11 T G 19: 12,246,365 (GRCm39) I257S possibly damaging Het
Or8i2 A G 2: 86,852,607 (GRCm39) F94L probably damaging Het
Pcdh1 A C 18: 38,336,085 (GRCm39) Y44* probably null Het
Pcdhb6 A T 18: 37,467,640 (GRCm39) D187V probably damaging Het
Pclo A G 5: 14,727,001 (GRCm39) probably benign Het
Pdcl3 T A 1: 39,034,836 (GRCm39) I80K possibly damaging Het
Pde12 A T 14: 26,390,022 (GRCm39) V229E probably benign Het
Plcg1 A G 2: 160,590,008 (GRCm39) E142G probably benign Het
Plxnb1 A G 9: 108,930,125 (GRCm39) probably null Het
Pnpla1 A G 17: 29,097,508 (GRCm39) I225V probably benign Het
Polr2f A G 15: 79,028,805 (GRCm39) probably benign Het
Prob1 A G 18: 35,787,364 (GRCm39) S297P possibly damaging Het
Qsox2 A C 2: 26,110,970 (GRCm39) S132A probably benign Het
Rab19 T A 6: 39,365,095 (GRCm39) Y118* probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptn T C 3: 93,304,445 (GRCm39) S593P possibly damaging Het
Septin11 T C 5: 93,304,783 (GRCm39) I200T probably damaging Het
Slc10a4 T A 5: 73,173,491 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,422,324 (GRCm39) I1130F probably benign Het
Slit3 C T 11: 35,520,659 (GRCm39) R599C probably damaging Het
Snx19 C T 9: 30,344,662 (GRCm39) P622L probably damaging Het
Sspo T C 6: 48,471,782 (GRCm39) L50P probably damaging Het
St8sia1 A T 6: 142,822,453 (GRCm39) C137S probably damaging Het
Syt11 G C 3: 88,669,259 (GRCm39) T211S possibly damaging Het
Tanc1 A C 2: 59,621,153 (GRCm39) Y324S probably damaging Het
Tas2r136 T C 6: 132,754,753 (GRCm39) I125V possibly damaging Het
Tbc1d15 A T 10: 115,046,130 (GRCm39) W458R probably damaging Het
Tecta G T 9: 42,270,597 (GRCm39) T1237N probably damaging Het
Tet2 T A 3: 133,193,051 (GRCm39) D461V probably damaging Het
Tmco3 G A 8: 13,368,866 (GRCm39) V573M possibly damaging Het
Tmem212 A T 3: 27,938,961 (GRCm39) M175K probably benign Het
Traf6 A G 2: 101,527,084 (GRCm39) H278R probably benign Het
Trerf1 T A 17: 47,652,092 (GRCm39) noncoding transcript Het
Ttn A C 2: 76,576,988 (GRCm39) V24635G probably damaging Het
Ush1c A T 7: 45,858,655 (GRCm39) D544E probably damaging Het
Usp47 C T 7: 111,685,307 (GRCm39) T586M probably damaging Het
Vmn2r1 T A 3: 63,989,163 (GRCm39) M34K probably benign Het
Vmn2r102 T A 17: 19,897,770 (GRCm39) W262R probably damaging Het
Wasf3 C T 5: 146,403,769 (GRCm39) A293V probably benign Het
Xrn2 A G 2: 146,903,436 (GRCm39) Q812R probably benign Het
Zc3h7b T C 15: 81,652,230 (GRCm39) I10T probably damaging Het
Zfp747 A T 7: 126,973,249 (GRCm39) L307Q probably damaging Het
Zfp777 A T 6: 48,020,824 (GRCm39) F266Y probably damaging Het
Other mutations in Epg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Epg5 APN 18 78,055,956 (GRCm39) missense probably damaging 1.00
IGL01778:Epg5 APN 18 78,062,489 (GRCm39) missense probably damaging 0.98
IGL01936:Epg5 APN 18 78,028,316 (GRCm39) missense probably damaging 1.00
IGL02189:Epg5 APN 18 78,056,085 (GRCm39) missense probably damaging 0.99
IGL02323:Epg5 APN 18 78,056,047 (GRCm39) nonsense probably null
IGL02567:Epg5 APN 18 78,076,288 (GRCm39) missense probably damaging 1.00
IGL02805:Epg5 APN 18 78,073,406 (GRCm39) splice site probably benign
IGL03282:Epg5 APN 18 78,029,641 (GRCm39) missense probably benign 0.25
stitch UTSW 18 77,991,514 (GRCm39) nonsense probably null
R0011:Epg5 UTSW 18 77,991,698 (GRCm39) missense probably benign
R0172:Epg5 UTSW 18 78,070,574 (GRCm39) missense probably benign 0.00
R0335:Epg5 UTSW 18 78,029,687 (GRCm39) missense probably benign 0.25
R0380:Epg5 UTSW 18 78,004,056 (GRCm39) missense probably damaging 1.00
R0441:Epg5 UTSW 18 78,066,486 (GRCm39) splice site probably benign
R0443:Epg5 UTSW 18 77,999,118 (GRCm39) splice site probably benign
R0445:Epg5 UTSW 18 78,057,399 (GRCm39) missense possibly damaging 0.87
R0448:Epg5 UTSW 18 78,066,580 (GRCm39) missense probably damaging 1.00
R0892:Epg5 UTSW 18 78,011,843 (GRCm39) missense possibly damaging 0.94
R1081:Epg5 UTSW 18 78,002,748 (GRCm39) missense possibly damaging 0.92
R1183:Epg5 UTSW 18 78,003,926 (GRCm39) missense probably damaging 1.00
R1374:Epg5 UTSW 18 78,024,541 (GRCm39) missense probably benign
R1428:Epg5 UTSW 18 78,005,642 (GRCm39) missense probably damaging 1.00
R1780:Epg5 UTSW 18 78,067,205 (GRCm39) missense probably damaging 0.99
R1801:Epg5 UTSW 18 78,026,705 (GRCm39) missense possibly damaging 0.63
R1864:Epg5 UTSW 18 78,018,246 (GRCm39) missense probably damaging 0.99
R1908:Epg5 UTSW 18 78,002,247 (GRCm39) missense probably benign 0.26
R1909:Epg5 UTSW 18 78,002,247 (GRCm39) missense probably benign 0.26
R1916:Epg5 UTSW 18 78,008,236 (GRCm39) missense probably benign 0.00
R1986:Epg5 UTSW 18 78,025,521 (GRCm39) critical splice acceptor site probably null
R2048:Epg5 UTSW 18 78,067,202 (GRCm39) missense probably damaging 0.98
R2080:Epg5 UTSW 18 77,991,960 (GRCm39) missense probably benign 0.01
R2106:Epg5 UTSW 18 78,034,578 (GRCm39) nonsense probably null
R2144:Epg5 UTSW 18 77,997,412 (GRCm39) missense possibly damaging 0.78
R2151:Epg5 UTSW 18 78,070,517 (GRCm39) missense probably benign
R2217:Epg5 UTSW 18 77,992,287 (GRCm39) missense probably benign
R2424:Epg5 UTSW 18 78,011,828 (GRCm39) missense probably benign 0.05
R2909:Epg5 UTSW 18 78,026,691 (GRCm39) missense probably damaging 1.00
R3725:Epg5 UTSW 18 78,060,894 (GRCm39) missense probably benign 0.00
R3899:Epg5 UTSW 18 78,000,725 (GRCm39) missense probably damaging 1.00
R4019:Epg5 UTSW 18 78,073,665 (GRCm39) missense probably damaging 0.98
R4260:Epg5 UTSW 18 78,058,914 (GRCm39) missense probably damaging 1.00
R4260:Epg5 UTSW 18 78,002,336 (GRCm39) missense possibly damaging 0.50
R4448:Epg5 UTSW 18 78,005,676 (GRCm39) missense probably damaging 1.00
R4475:Epg5 UTSW 18 77,991,723 (GRCm39) missense probably benign
R4612:Epg5 UTSW 18 78,025,629 (GRCm39) missense possibly damaging 0.77
R4666:Epg5 UTSW 18 78,056,079 (GRCm39) missense probably benign 0.45
R4767:Epg5 UTSW 18 78,066,498 (GRCm39) missense possibly damaging 0.67
R4779:Epg5 UTSW 18 78,034,580 (GRCm39) missense probably benign 0.01
R4791:Epg5 UTSW 18 77,992,211 (GRCm39) nonsense probably null
R4797:Epg5 UTSW 18 78,073,614 (GRCm39) missense probably benign 0.00
R4812:Epg5 UTSW 18 78,022,399 (GRCm39) missense probably benign 0.01
R4899:Epg5 UTSW 18 78,028,272 (GRCm39) missense probably damaging 1.00
R5000:Epg5 UTSW 18 77,997,376 (GRCm39) missense probably benign
R5031:Epg5 UTSW 18 78,072,163 (GRCm39) missense probably benign 0.00
R5050:Epg5 UTSW 18 78,019,156 (GRCm39) missense possibly damaging 0.55
R5114:Epg5 UTSW 18 78,038,828 (GRCm39) missense probably benign
R5144:Epg5 UTSW 18 78,058,895 (GRCm39) missense probably damaging 1.00
R5209:Epg5 UTSW 18 77,994,497 (GRCm39) missense probably damaging 1.00
R5213:Epg5 UTSW 18 78,058,049 (GRCm39) missense probably benign 0.01
R5270:Epg5 UTSW 18 78,026,778 (GRCm39) missense possibly damaging 0.79
R5324:Epg5 UTSW 18 78,005,660 (GRCm39) missense possibly damaging 0.94
R5443:Epg5 UTSW 18 78,070,712 (GRCm39) missense possibly damaging 0.55
R5503:Epg5 UTSW 18 77,994,422 (GRCm39) missense possibly damaging 0.81
R5593:Epg5 UTSW 18 78,000,689 (GRCm39) missense probably damaging 1.00
R5718:Epg5 UTSW 18 78,029,618 (GRCm39) missense probably damaging 1.00
R5773:Epg5 UTSW 18 78,004,040 (GRCm39) missense probably damaging 1.00
R5828:Epg5 UTSW 18 78,064,066 (GRCm39) missense probably damaging 0.99
R5847:Epg5 UTSW 18 78,073,270 (GRCm39) missense probably benign 0.06
R5858:Epg5 UTSW 18 77,991,514 (GRCm39) nonsense probably null
R5914:Epg5 UTSW 18 78,002,847 (GRCm39) critical splice donor site probably null
R6124:Epg5 UTSW 18 78,073,260 (GRCm39) missense probably benign
R6228:Epg5 UTSW 18 77,991,677 (GRCm39) missense possibly damaging 0.90
R6252:Epg5 UTSW 18 78,028,382 (GRCm39) missense probably damaging 1.00
R6269:Epg5 UTSW 18 77,991,585 (GRCm39) missense probably benign
R6312:Epg5 UTSW 18 78,022,426 (GRCm39) missense possibly damaging 0.72
R6320:Epg5 UTSW 18 78,005,613 (GRCm39) missense probably damaging 1.00
R6328:Epg5 UTSW 18 78,072,179 (GRCm39) missense possibly damaging 0.88
R6430:Epg5 UTSW 18 78,019,100 (GRCm39) missense probably damaging 1.00
R6458:Epg5 UTSW 18 77,991,469 (GRCm39) missense probably benign 0.03
R6852:Epg5 UTSW 18 78,056,106 (GRCm39) missense probably damaging 1.00
R6915:Epg5 UTSW 18 78,022,380 (GRCm39) missense probably benign 0.00
R6930:Epg5 UTSW 18 78,057,378 (GRCm39) missense probably damaging 0.99
R6932:Epg5 UTSW 18 77,991,824 (GRCm39) missense probably benign 0.00
R7127:Epg5 UTSW 18 78,072,140 (GRCm39) missense probably damaging 1.00
R7207:Epg5 UTSW 18 77,992,170 (GRCm39) missense probably damaging 1.00
R7225:Epg5 UTSW 18 78,055,917 (GRCm39) missense probably benign 0.45
R7358:Epg5 UTSW 18 78,002,252 (GRCm39) missense possibly damaging 0.78
R7414:Epg5 UTSW 18 78,026,747 (GRCm39) missense possibly damaging 0.65
R7437:Epg5 UTSW 18 78,066,493 (GRCm39) missense probably benign 0.01
R7535:Epg5 UTSW 18 78,076,141 (GRCm39) missense probably benign 0.18
R7586:Epg5 UTSW 18 78,073,275 (GRCm39) missense probably benign
R7651:Epg5 UTSW 18 78,024,615 (GRCm39) nonsense probably null
R7715:Epg5 UTSW 18 78,011,801 (GRCm39) missense probably damaging 1.00
R7753:Epg5 UTSW 18 77,991,560 (GRCm39) missense possibly damaging 0.92
R7981:Epg5 UTSW 18 78,052,929 (GRCm39) critical splice donor site probably null
R8114:Epg5 UTSW 18 78,073,365 (GRCm39) missense probably benign 0.41
R8124:Epg5 UTSW 18 78,008,211 (GRCm39) missense probably benign 0.05
R8307:Epg5 UTSW 18 78,065,894 (GRCm39) missense probably damaging 1.00
R8458:Epg5 UTSW 18 77,991,946 (GRCm39) missense probably benign 0.00
R8751:Epg5 UTSW 18 78,008,225 (GRCm39) missense probably benign 0.28
R8751:Epg5 UTSW 18 78,008,224 (GRCm39) missense possibly damaging 0.65
R8751:Epg5 UTSW 18 78,008,223 (GRCm39) missense probably benign 0.07
R8888:Epg5 UTSW 18 78,056,086 (GRCm39) missense possibly damaging 0.76
R8971:Epg5 UTSW 18 78,022,434 (GRCm39) missense probably damaging 1.00
R9045:Epg5 UTSW 18 77,992,014 (GRCm39) missense probably damaging 1.00
R9291:Epg5 UTSW 18 78,056,065 (GRCm39) nonsense probably null
R9327:Epg5 UTSW 18 77,991,435 (GRCm39) missense probably benign 0.00
R9365:Epg5 UTSW 18 77,997,957 (GRCm39) missense probably damaging 1.00
R9742:Epg5 UTSW 18 78,024,170 (GRCm39) missense probably damaging 1.00
X0023:Epg5 UTSW 18 78,011,872 (GRCm39) missense probably damaging 0.99
X0060:Epg5 UTSW 18 78,005,700 (GRCm39) missense possibly damaging 0.94
Z1088:Epg5 UTSW 18 78,002,354 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGGCCATCTCTTCTAGGTAATGGAGAC -3'
(R):5'- TGGACAACAGATACACACCTCTTTGC -3'

Sequencing Primer
(F):5'- ACGGTACAGTGGCTTTCTGAC -3'
(R):5'- GTGAGTATACGGGCTCACC -3'
Posted On 2014-05-23