Incidental Mutation 'R4894:Epc1'
ID377524
Institutional Source Beutler Lab
Gene Symbol Epc1
Ensembl Gene ENSMUSG00000024240
Gene Nameenhancer of polycomb homolog 1
Synonyms2400007E14Rik, A930032N02Rik, 5730566F07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4894 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location6435951-6516108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6449011 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 495 (S495R)
Ref Sequence ENSEMBL: ENSMUSP00000111536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028100] [ENSMUST00000115870]
Predicted Effect probably benign
Transcript: ENSMUST00000028100
AA Change: S545R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: S545R

DomainStartEndE-ValueType
Pfam:EPL1 7 149 7e-14 PFAM
low complexity region 161 170 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 455 465 N/A INTRINSIC
low complexity region 564 577 N/A INTRINSIC
Pfam:E_Pc_C 581 813 1.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115870
AA Change: S495R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: S495R

DomainStartEndE-ValueType
Pfam:EPL1 1 99 1.3e-19 PFAM
low complexity region 111 120 N/A INTRINSIC
low complexity region 295 311 N/A INTRINSIC
low complexity region 405 415 N/A INTRINSIC
low complexity region 514 527 N/A INTRINSIC
Pfam:E_Pc_C 531 763 1.7e-110 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to P10 (no time point given) and heterozygous mice exhibit impaired skeletal muscle differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 C A 17: 43,299,084 Y176* probably null Het
Akap13 T A 7: 75,725,320 M1900K possibly damaging Het
Ankrd36 A G 11: 5,635,332 E381G probably damaging Het
Ap3s1 T C 18: 46,758,116 probably null Het
Cacna1e G T 1: 154,488,805 S341* probably null Het
Camk1d G A 2: 5,354,728 S161L probably damaging Het
Cdh23 G T 10: 60,337,851 H1619Q probably benign Het
Chd7 T A 4: 8,838,629 I1276N probably damaging Het
Clca1 A G 3: 145,013,901 V436A probably damaging Het
Ctcfl G A 2: 173,117,403 P177S probably benign Het
Dab2ip A G 2: 35,730,527 probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Espl1 A G 15: 102,322,323 probably null Het
Eya4 T C 10: 23,109,854 E583G possibly damaging Het
Fam111a C G 19: 12,588,549 T554R probably benign Het
Fbxo18 A T 2: 11,762,960 I359N probably damaging Het
Fer1l6 T C 15: 58,618,902 C1023R probably damaging Het
Gm14139 T A 2: 150,191,979 C104* probably null Het
Helz2 G C 2: 181,236,147 P953A probably benign Het
Ifi204 G T 1: 173,760,242 S117Y probably damaging Het
Igfn1 G A 1: 135,954,782 T2775M probably damaging Het
Igsf9 A G 1: 172,498,067 T1101A probably benign Het
Ipo13 A C 4: 117,903,441 I614S probably damaging Het
Ipo13 A G 4: 117,904,490 I476T possibly damaging Het
Kdm2b C A 5: 122,940,967 E308* probably null Het
Klhl20 A T 1: 161,109,532 M91K possibly damaging Het
Klrb1f T C 6: 129,053,188 F64L probably benign Het
Ldlrad3 C T 2: 102,057,948 C106Y probably damaging Het
Lilra6 T C 7: 3,912,531 T161A probably benign Het
Lrriq1 A T 10: 103,161,752 M1334K possibly damaging Het
Mepe C G 5: 104,325,402 P3R probably damaging Het
Mgat4e A G 1: 134,541,118 V396A probably benign Het
Nfx1 T G 4: 40,996,877 S651A probably damaging Het
Olfr1214 T C 2: 88,987,439 I254M possibly damaging Het
Olfr1337 A T 4: 118,782,286 C100S probably damaging Het
Olfr1361 T C 13: 21,659,182 N47S probably damaging Het
Rag2 T C 2: 101,629,677 S111P probably damaging Het
Rai1 T A 11: 60,186,746 D545E probably damaging Het
Ralgps1 A G 2: 33,143,103 V498A possibly damaging Het
Rasal2 G A 1: 157,192,804 S205L probably damaging Het
Rec8 T C 14: 55,625,330 L582P probably damaging Het
Retn G A 8: 3,657,358 R106H probably damaging Het
Rnf112 A G 11: 61,452,662 L116P probably damaging Het
Rnf213 T C 11: 119,481,240 Y4885H probably damaging Het
Sacm1l A G 9: 123,582,344 I399M probably benign Het
Sez6 G T 11: 77,975,260 G738V probably damaging Het
Spata17 A G 1: 187,140,446 V56A probably benign Het
Spata31d1a A T 13: 59,701,728 V862D probably damaging Het
Sptb A G 12: 76,624,994 probably null Het
Srpk2 C A 5: 23,545,529 G59W probably damaging Het
Ttc30a1 T C 2: 75,979,744 *665W probably null Het
Tyro3 T C 2: 119,802,298 S96P probably damaging Het
Ube2v1 A G 2: 167,610,360 S108P probably damaging Het
Usp2 C T 9: 44,075,828 S141L probably benign Het
Vamp5 T C 6: 72,370,198 D46G possibly damaging Het
Vmn1r23 T A 6: 57,926,325 Q156L probably benign Het
Vmn2r6 C T 3: 64,547,408 S490N probably benign Het
Vps39 A T 2: 120,352,959 I10N probably damaging Het
Vwf C T 6: 125,645,934 Q1755* probably null Het
Wdfy4 A T 14: 33,155,760 H82Q probably benign Het
Wdr24 T C 17: 25,826,127 Y279H probably damaging Het
Wdr72 A G 9: 74,210,561 T852A probably benign Het
Zfp1 T A 8: 111,669,723 C92* probably null Het
Zfp426 A T 9: 20,475,073 probably benign Het
Zfp442 C T 2: 150,411,210 probably null Het
Zfp74 T C 7: 29,936,045 probably benign Het
Other mutations in Epc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Epc1 APN 18 6450515 missense probably damaging 1.00
IGL00930:Epc1 APN 18 6449196 missense probably benign
IGL01637:Epc1 APN 18 6439724 missense probably benign 0.22
IGL01929:Epc1 APN 18 6449217 missense possibly damaging 0.94
IGL01993:Epc1 APN 18 6449136 missense possibly damaging 0.83
IGL02234:Epc1 APN 18 6439938 missense probably damaging 1.00
IGL02262:Epc1 APN 18 6437278 missense probably damaging 1.00
IGL02746:Epc1 APN 18 6454317 missense probably benign 0.09
PIT4131001:Epc1 UTSW 18 6449246 missense probably damaging 1.00
R0101:Epc1 UTSW 18 6462998 splice site probably benign
R0230:Epc1 UTSW 18 6440168 missense probably damaging 1.00
R0310:Epc1 UTSW 18 6440202 splice site probably benign
R0959:Epc1 UTSW 18 6453657 missense probably damaging 1.00
R1172:Epc1 UTSW 18 6490525 missense probably damaging 0.99
R1445:Epc1 UTSW 18 6452360 missense probably damaging 1.00
R1576:Epc1 UTSW 18 6452366 missense possibly damaging 0.49
R1640:Epc1 UTSW 18 6441175 nonsense probably null
R2128:Epc1 UTSW 18 6462954 missense probably damaging 1.00
R3763:Epc1 UTSW 18 6440091 missense possibly damaging 0.81
R3883:Epc1 UTSW 18 6452258 missense possibly damaging 0.67
R4184:Epc1 UTSW 18 6453578 missense possibly damaging 0.65
R4258:Epc1 UTSW 18 6450130 missense probably benign 0.21
R4585:Epc1 UTSW 18 6441157 nonsense probably null
R4586:Epc1 UTSW 18 6449138 missense possibly damaging 0.88
R5305:Epc1 UTSW 18 6490690 intron probably benign
R5314:Epc1 UTSW 18 6462969 missense probably damaging 1.00
R5335:Epc1 UTSW 18 6490689 intron probably benign
R5344:Epc1 UTSW 18 6450614 missense probably benign 0.03
R5620:Epc1 UTSW 18 6448917 missense probably benign 0.01
R7567:Epc1 UTSW 18 6450084 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCAACAAGATGGAAGGC -3'
(R):5'- AGAGCGCATTCAGACTATGAC -3'

Sequencing Primer
(F):5'- ACAAGATGGAAGGCCCCGC -3'
(R):5'- ACCACCTGGATTTGGACATG -3'
Posted On2016-03-17