Incidental Mutation 'IGL02479:Epc2'
ID 295117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epc2
Ensembl Gene ENSMUSG00000069495
Gene Name enhancer of polycomb homolog 2
Synonyms D2Ertd694e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02479
Quality Score
Status
Chromosome 2
Chromosomal Location 49341498-49441954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49422147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 347 (I347K)
Ref Sequence ENSEMBL: ENSMUSP00000089758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092123] [ENSMUST00000152485]
AlphaFold Q8C0I4
Predicted Effect probably benign
Transcript: ENSMUST00000092123
AA Change: I347K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: I347K

DomainStartEndE-ValueType
Pfam:EPL1 7 149 6.5e-18 PFAM
low complexity region 334 342 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
low complexity region 485 499 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Pfam:E_Pc_C 578 808 2.1e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152485
SMART Domains Protein: ENSMUSP00000119134
Gene: ENSMUSG00000069495

DomainStartEndE-ValueType
low complexity region 150 171 N/A INTRINSIC
low complexity region 190 204 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(45) : Targeted(3) Gene trapped(42)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cask A T X: 13,423,297 (GRCm39) D502E probably damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
F8 A T X: 74,331,846 (GRCm39) N681K probably damaging Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Luc7l3 G A 11: 94,187,735 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Stk31 A G 6: 49,398,622 (GRCm39) E341G probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Vrk1 A T 12: 106,017,261 (GRCm39) Q95L probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in Epc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Epc2 APN 2 49,422,209 (GRCm39) missense probably damaging 1.00
IGL03342:Epc2 APN 2 49,426,658 (GRCm39) missense probably benign 0.02
IGL02984:Epc2 UTSW 2 49,418,866 (GRCm39) missense probably damaging 1.00
R0014:Epc2 UTSW 2 49,412,537 (GRCm39) nonsense probably null
R0014:Epc2 UTSW 2 49,412,537 (GRCm39) nonsense probably null
R0360:Epc2 UTSW 2 49,427,145 (GRCm39) missense possibly damaging 0.81
R0364:Epc2 UTSW 2 49,427,145 (GRCm39) missense possibly damaging 0.81
R0401:Epc2 UTSW 2 49,418,986 (GRCm39) missense probably damaging 0.99
R1269:Epc2 UTSW 2 49,412,588 (GRCm39) missense probably benign 0.38
R1495:Epc2 UTSW 2 49,426,675 (GRCm39) missense probably damaging 1.00
R1573:Epc2 UTSW 2 49,439,984 (GRCm39) missense possibly damaging 0.81
R1619:Epc2 UTSW 2 49,439,990 (GRCm39) missense probably damaging 0.99
R1721:Epc2 UTSW 2 49,422,117 (GRCm39) missense probably damaging 1.00
R1847:Epc2 UTSW 2 49,422,101 (GRCm39) missense probably damaging 1.00
R1867:Epc2 UTSW 2 49,422,117 (GRCm39) missense probably damaging 1.00
R2113:Epc2 UTSW 2 49,422,235 (GRCm39) missense probably benign
R2120:Epc2 UTSW 2 49,437,621 (GRCm39) splice site probably benign
R3840:Epc2 UTSW 2 49,378,750 (GRCm39) missense probably damaging 1.00
R3841:Epc2 UTSW 2 49,378,750 (GRCm39) missense probably damaging 1.00
R4366:Epc2 UTSW 2 49,437,566 (GRCm39) missense possibly damaging 0.84
R4864:Epc2 UTSW 2 49,427,177 (GRCm39) missense probably benign
R5335:Epc2 UTSW 2 49,403,242 (GRCm39) missense probably benign 0.39
R5639:Epc2 UTSW 2 49,341,903 (GRCm39) missense possibly damaging 0.78
R5695:Epc2 UTSW 2 49,437,619 (GRCm39) critical splice donor site probably null
R6259:Epc2 UTSW 2 49,378,866 (GRCm39) splice site probably null
R6420:Epc2 UTSW 2 49,341,912 (GRCm39) missense probably damaging 0.98
R6667:Epc2 UTSW 2 49,412,681 (GRCm39) missense probably damaging 0.99
R6788:Epc2 UTSW 2 49,422,099 (GRCm39) missense probably benign 0.32
R7061:Epc2 UTSW 2 49,425,334 (GRCm39) missense probably damaging 1.00
R7672:Epc2 UTSW 2 49,435,831 (GRCm39) missense possibly damaging 0.56
R8377:Epc2 UTSW 2 49,412,527 (GRCm39) missense probably damaging 0.99
R9397:Epc2 UTSW 2 49,378,822 (GRCm39) missense probably damaging 1.00
RF009:Epc2 UTSW 2 49,422,249 (GRCm39) critical splice donor site probably null
Z1176:Epc2 UTSW 2 49,425,312 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16