Incidental Mutation 'IGL01921:Epc2'
ID180099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epc2
Ensembl Gene ENSMUSG00000069495
Gene Nameenhancer of polycomb homolog 2
SynonymsD2Ertd694e
Accession Numbers

Ncbi RefSeq: NM_172663.4; MGI:1278321

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01921
Quality Score
Status
Chromosome2
Chromosomal Location49451486-49551948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49532197 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 368 (Y368N)
Ref Sequence ENSEMBL: ENSMUSP00000089758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092123] [ENSMUST00000152485]
Predicted Effect probably damaging
Transcript: ENSMUST00000092123
AA Change: Y368N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: Y368N

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Epc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Epc2 APN 2 49532135 missense probably benign 0.00
IGL03342:Epc2 APN 2 49536646 missense probably benign 0.02
IGL02984:Epc2 UTSW 2 49528854 missense probably damaging 1.00
R0014:Epc2 UTSW 2 49522525 nonsense probably null
R0014:Epc2 UTSW 2 49522525 nonsense probably null
R0360:Epc2 UTSW 2 49537133 missense possibly damaging 0.81
R0364:Epc2 UTSW 2 49537133 missense possibly damaging 0.81
R0401:Epc2 UTSW 2 49528974 missense probably damaging 0.99
R1269:Epc2 UTSW 2 49522576 missense probably benign 0.38
R1495:Epc2 UTSW 2 49536663 missense probably damaging 1.00
R1573:Epc2 UTSW 2 49549972 missense possibly damaging 0.81
R1619:Epc2 UTSW 2 49549978 missense probably damaging 0.99
R1721:Epc2 UTSW 2 49532105 missense probably damaging 1.00
R1847:Epc2 UTSW 2 49532089 missense probably damaging 1.00
R1867:Epc2 UTSW 2 49532105 missense probably damaging 1.00
R2113:Epc2 UTSW 2 49532223 missense probably benign
R2120:Epc2 UTSW 2 49547609 splice site probably benign
R3840:Epc2 UTSW 2 49488738 missense probably damaging 1.00
R3841:Epc2 UTSW 2 49488738 missense probably damaging 1.00
R4366:Epc2 UTSW 2 49547554 missense possibly damaging 0.84
R4864:Epc2 UTSW 2 49537165 missense probably benign
R5335:Epc2 UTSW 2 49513230 missense probably benign 0.39
R5639:Epc2 UTSW 2 49451891 missense possibly damaging 0.78
R5695:Epc2 UTSW 2 49547607 critical splice donor site probably null
R6259:Epc2 UTSW 2 49488854 splice site probably null
R6420:Epc2 UTSW 2 49451900 missense probably damaging 0.98
R6667:Epc2 UTSW 2 49522669 missense probably damaging 0.99
R6788:Epc2 UTSW 2 49532087 missense probably benign 0.32
R7061:Epc2 UTSW 2 49535322 missense probably damaging 1.00
R7672:Epc2 UTSW 2 49545819 missense possibly damaging 0.56
R8377:Epc2 UTSW 2 49522515 missense probably damaging 0.99
RF009:Epc2 UTSW 2 49532237 critical splice donor site probably null
Z1176:Epc2 UTSW 2 49535300 missense probably damaging 1.00
Posted On2014-05-07