Incidental Mutation 'IGL02572:Epop'
ID299060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epop
Ensembl Gene ENSMUSG00000043439
Gene Nameelongin BC and polycomb repressive complex 2 associated protein
SynonymsE130012A19Rik, E13
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.340) question?
Stock #IGL02572
Quality Score
Status
Chromosome11
Chromosomal Location97627389-97629702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97628201 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 361 (S361T)
Ref Sequence ENSEMBL: ENSMUSP00000051211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052281]
Predicted Effect probably benign
Transcript: ENSMUST00000052281
AA Change: S361T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051211
Gene: ENSMUSG00000043439
AA Change: S361T

DomainStartEndE-ValueType
internal_repeat_1 6 31 5.48e-5 PROSPERO
low complexity region 38 49 N/A INTRINSIC
low complexity region 115 125 N/A INTRINSIC
internal_repeat_1 136 163 5.48e-5 PROSPERO
low complexity region 166 192 N/A INTRINSIC
low complexity region 200 233 N/A INTRINSIC
Pfam:DUF4584 292 361 1.7e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Epop
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:Epop UTSW 11 97628191 missense probably benign 0.00
R1991:Epop UTSW 11 97628654 missense probably benign
R2103:Epop UTSW 11 97628654 missense probably benign
R2520:Epop UTSW 11 97628728 missense probably benign 0.40
R4691:Epop UTSW 11 97628893 missense possibly damaging 0.55
R4926:Epop UTSW 11 97628317 missense probably damaging 1.00
R6364:Epop UTSW 11 97628687 missense probably benign 0.40
R6459:Epop UTSW 11 97628507 missense possibly damaging 0.93
X0067:Epop UTSW 11 97628986 missense probably damaging 0.99
Posted On2015-04-16