Incidental Mutation 'IGL01637:Epc1'
ID 93054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epc1
Ensembl Gene ENSMUSG00000024240
Gene Name enhancer of polycomb homolog 1
Synonyms 2400007E14Rik, A930032N02Rik, 5730566F07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01637
Quality Score
Status
Chromosome 18
Chromosomal Location 6435951-6516108 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6439724 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 150 (V150A)
Ref Sequence ENSEMBL: ENSMUSP00000117601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028100] [ENSMUST00000115870] [ENSMUST00000124926]
AlphaFold Q8C9X6
Predicted Effect probably benign
Transcript: ENSMUST00000028100
AA Change: V746A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: V746A

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: V696A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: V696A

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 benign
Transcript: ENSMUST00000124926
AA Change: V150A

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117601
Gene: ENSMUSG00000024240
AA Change: V150A

DomainStartEndE-ValueType
Pfam:E_Pc_C 1 193 2.4e-81 PFAM
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 I384N probably damaging Het
Adsl G T 15: 80,948,700 Q51H probably null Het
Apcdd1 A G 18: 62,937,286 E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 R155* probably null Het
Atp9b T C 18: 80,756,455 E823G probably benign Het
Bmp1 A G 14: 70,492,461 W468R probably damaging Het
C6 A G 15: 4,759,917 I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 T1392A probably benign Het
Dhx34 G T 7: 16,205,473 S665Y probably damaging Het
Dock1 A T 7: 135,137,813 probably null Het
Dpp7 T C 2: 25,354,613 N252S probably benign Het
Dyrk2 A G 10: 118,860,507 V282A probably damaging Het
Edrf1 T C 7: 133,650,525 L401P probably damaging Het
Fam170a A T 18: 50,281,667 M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 T277S probably damaging Het
Galntl5 T C 5: 25,189,825 probably benign Het
Gbp2b A G 3: 142,598,312 N56S probably damaging Het
Gfm2 T A 13: 97,150,409 V172E probably damaging Het
Gm10419 T C 5: 108,372,358 probably benign Het
Gm7293 A G 9: 51,623,606 noncoding transcript Het
Gstm3 T C 3: 107,967,633 E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 probably benign Het
Ighv7-1 T A 12: 113,896,503 I90F possibly damaging Het
Itga2b A G 11: 102,455,583 L1009P probably damaging Het
Kif1a A G 1: 93,039,853 V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 D232E possibly damaging Het
Klb G A 5: 65,375,679 probably null Het
Lrriq1 G A 10: 103,215,628 A421V probably benign Het
Mdga1 G A 17: 29,839,871 R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 probably benign Het
Myo18b T A 5: 112,840,629 R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 L594I probably damaging Het
Notch2 C T 3: 98,146,060 T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 T6S probably benign Het
Olfr131 G A 17: 38,082,103 L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr812 A G 10: 129,842,610 L144P probably benign Het
Olfr845 T C 9: 19,338,964 F168S probably damaging Het
Panx3 T C 9: 37,664,056 D170G probably damaging Het
Pclo A G 5: 14,540,034 S783G unknown Het
Pde3b T A 7: 114,526,901 L790* probably null Het
Pik3r2 T C 8: 70,772,348 probably benign Het
Rassf4 A G 6: 116,641,690 F211L probably damaging Het
Rbl2 C T 8: 91,106,438 P666S probably benign Het
Rnf123 A G 9: 108,058,238 F979L probably damaging Het
Rock2 T A 12: 16,965,171 D788E probably benign Het
Serpina3b A G 12: 104,132,957 T244A probably benign Het
Setd1b T C 5: 123,148,513 S541P unknown Het
Slc12a4 T C 8: 105,960,707 D60G possibly damaging Het
Stac2 T C 11: 98,041,354 E241G probably benign Het
Tas2r115 A G 6: 132,737,629 Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 F450I probably benign Het
Txnl1 A T 18: 63,674,191 I198N probably damaging Het
Ubr2 A T 17: 46,956,654 M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 E136G probably benign Het
Unc13b C T 4: 43,241,066 T3623I probably damaging Het
Usp13 T A 3: 32,919,064 S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 T203S probably damaging Het
Vwf T A 6: 125,645,736 I1718N probably damaging Het
Zfr A G 15: 12,159,646 H676R 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
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
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
R8129:Epc1 UTSW 18 6439634 missense possibly damaging 0.81
R9266:Epc1 UTSW 18 6449219 missense probably benign 0.00
Posted On 2013-12-09