Incidental Mutation 'R4585:Epc1'
ID344059
Institutional Source Beutler Lab
Gene Symbol Epc1
Ensembl Gene ENSMUSG00000024240
Gene Nameenhancer of polycomb homolog 1
Synonyms2400007E14Rik, A930032N02Rik, 5730566F07Rik
MMRRC Submission 041806-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4585 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location6435951-6516108 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 6441157 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 14 (Q14*)
Ref Sequence ENSEMBL: ENSMUSP00000117601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028100] [ENSMUST00000115870] [ENSMUST00000124926]
Predicted Effect probably null
Transcript: ENSMUST00000028100
AA Change: Q610*
SMART Domains Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: Q610*

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 null
Transcript: ENSMUST00000115870
AA Change: Q560*
SMART Domains Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: Q560*

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
Predicted Effect probably null
Transcript: ENSMUST00000124926
AA Change: Q14*
SMART Domains Protein: ENSMUSP00000117601
Gene: ENSMUSG00000024240
AA Change: Q14*

DomainStartEndE-ValueType
Pfam:E_Pc_C 1 193 2.4e-81 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 3,976,151 S1269P probably benign Het
Akr7a5 G T 4: 139,310,927 R58L probably benign Het
Art2a-ps A T 7: 101,554,749 L194* probably null Het
Aurkaip1 C A 4: 155,832,634 A113D possibly damaging Het
Bsn T C 9: 108,110,463 probably benign Het
Ccdc175 T G 12: 72,175,179 D123A possibly damaging Het
Ccdc7b A G 8: 129,110,920 T131A probably benign Het
Ccnt2 T C 1: 127,803,029 S548P probably damaging Het
Cep126 T C 9: 8,103,337 Q224R probably damaging Het
Cic A T 7: 25,272,778 I645L probably benign Het
Cngb1 C T 8: 95,297,128 probably null Het
Col13a1 T C 10: 61,887,245 probably null Het
Corin A T 5: 72,329,699 V706D probably damaging Het
Crebrf A G 17: 26,762,255 K535R probably damaging Het
Cuzd1 G A 7: 131,314,800 P310L probably damaging Het
Cxcr5 T A 9: 44,514,145 I72F probably benign Het
Dapp1 T C 3: 137,939,171 Q148R probably benign Het
Dcaf17 T A 2: 71,088,580 S499R probably benign Het
Defb3 A T 8: 19,295,156 I43F possibly damaging Het
Dlgap2 G A 8: 14,727,999 probably null Het
Dnah8 A G 17: 30,751,567 D2684G probably benign Het
Dnajc10 T G 2: 80,347,778 F710V probably damaging Het
Ep400 G A 5: 110,753,859 T464I probably damaging Het
Eral1 A T 11: 78,078,304 N123K probably damaging Het
Ercc5 G A 1: 44,158,857 V145I probably benign Het
Evc A G 5: 37,323,713 S263P probably damaging Het
Fancc A T 13: 63,347,564 M182K probably benign Het
Fbxl3 G T 14: 103,083,090 A355E probably damaging Het
Glra3 C A 8: 56,088,993 T257K probably damaging Het
Gm12789 A G 4: 101,989,962 Y148C possibly damaging Het
Gm14393 C A 2: 175,062,704 probably benign Het
Gm19965 T A 1: 116,821,778 N396K probably benign Het
Gm27013 A T 6: 130,521,040 noncoding transcript Het
Gmcl1 A G 6: 86,722,623 S141P probably damaging Het
Gsdmd T A 15: 75,865,751 probably null Het
Gtf2a1 C T 12: 91,562,926 V338I possibly damaging Het
Hap1 G A 11: 100,354,724 T138M probably benign Het
Hist1h2ak T C 13: 21,753,712 N39S possibly damaging Het
Ints2 G T 11: 86,249,275 R244S probably damaging Het
Itgb4 T C 11: 115,993,325 V945A probably damaging Het
Itih2 C T 2: 10,110,400 S387N probably benign Het
Klra2 T A 6: 131,230,157 D163V probably benign Het
Lctl T C 9: 64,131,600 S324P probably damaging Het
Lrrc24 C A 15: 76,723,689 R43L probably damaging Het
Mogs G T 6: 83,118,638 R812L possibly damaging Het
Mroh5 T A 15: 73,789,271 T467S probably benign Het
Mtap G A 4: 89,172,274 V194I probably benign Het
Myoz1 A G 14: 20,650,595 W185R probably damaging Het
Nufip2 T C 11: 77,741,728 V690A unknown Het
Obox1 A T 7: 15,556,227 N165I possibly damaging Het
Olfr1218 T G 2: 89,055,154 I91L possibly damaging Het
Olfr3 C T 2: 36,812,525 C189Y probably damaging Het
Olfr32 T A 2: 90,138,214 E308D probably benign Het
Olfr781 A G 10: 129,333,273 T131A probably benign Het
Pabpc6 A G 17: 9,669,073 L183P probably damaging Het
Pcdh15 C T 10: 74,624,284 R1355W probably damaging Het
Pcdhgb8 C A 18: 37,762,360 A161E probably benign Het
Pex1 A G 5: 3,633,885 Y1127C probably damaging Het
Phc2 A T 4: 128,743,510 H563L probably damaging Het
Plekha2 C A 8: 25,043,669 E291* probably null Het
Qser1 C A 2: 104,786,793 V1225L probably benign Het
Ralgapa2 A T 2: 146,315,024 D1882E probably damaging Het
Rgs17 T C 10: 5,842,596 D70G probably benign Het
Runx1t1 A T 4: 13,889,864 T598S unknown Het
Scn2a T A 2: 65,743,051 probably null Het
Serpinb10 T A 1: 107,547,049 C314S probably benign Het
Setbp1 A C 18: 79,086,949 S23A probably benign Het
Sh3pxd2b A G 11: 32,396,479 D116G possibly damaging Het
Slc4a1 G T 11: 102,361,419 probably benign Het
Snx19 T C 9: 30,440,195 L155P probably damaging Het
Sox2 A G 3: 34,651,044 N210S probably benign Het
Spag6 T C 2: 18,732,147 probably null Het
Speer4b A T 5: 27,498,038 L154Q probably null Het
Strn3 T A 12: 51,650,170 E259D probably benign Het
Tenm1 G A X: 42,537,979 Q1931* probably null Het
Trp53bp1 C G 2: 121,207,951 G1469R probably damaging Het
Ttc8 C A 12: 98,982,530 Q492K probably benign Het
Ttn T C 2: 76,968,403 H509R probably benign Het
Utrn T A 10: 12,688,306 H1270L probably benign Het
Vopp1 G A 6: 57,754,548 P153S probably damaging Het
Wdfy4 T A 14: 33,087,955 I1770F possibly damaging Het
Zfp14 G T 7: 30,038,916 Q215K probably damaging Het
Zfp473 A T 7: 44,732,952 Y651* probably null Het
Zfp735 G T 11: 73,689,724 E16D possibly damaging 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
R4586:Epc1 UTSW 18 6449138 missense possibly damaging 0.88
R4894:Epc1 UTSW 18 6449011 missense probably benign
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'- ACCTGGAATGTTCTTTCTAAACCC -3'
(R):5'- GAAGATGCTCGTTTGCCTCTG -3'

Sequencing Primer
(F):5'- CTGTACATTCAGGCCAGAGC -3'
(R):5'- GGCAGCATCATTTCTATCCAAATGC -3'
Posted On2015-09-24