Incidental Mutation 'IGL02749:Eny2'
ID306190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eny2
Ensembl Gene ENSMUSG00000022338
Gene NameENY2 transcription and export complex 2 subunit
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.874) question?
Stock #IGL02749
Quality Score
Status
Chromosome15
Chromosomal Location44428042-44438256 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44429635 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 28 (R28C)
Ref Sequence ENSEMBL: ENSMUSP00000154687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038719] [ENSMUST00000060652] [ENSMUST00000226336] [ENSMUST00000226355] [ENSMUST00000226606] [ENSMUST00000226827] [ENSMUST00000227425] [ENSMUST00000228130] [ENSMUST00000227843]
Predicted Effect probably benign
Transcript: ENSMUST00000038719
SMART Domains Protein: ENSMUSP00000042746
Gene: ENSMUSG00000038736

DomainStartEndE-ValueType
Pfam:CS 275 349 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060652
AA Change: R28C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000052905
Gene: ENSMUSG00000022338
AA Change: R28C

DomainStartEndE-ValueType
Pfam:EnY2 13 95 5.7e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177971
Predicted Effect possibly damaging
Transcript: ENSMUST00000226336
AA Change: R28C

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000226355
AA Change: R28W
Predicted Effect probably benign
Transcript: ENSMUST00000226606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226660
Predicted Effect probably benign
Transcript: ENSMUST00000226827
AA Change: R23C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000227425
AA Change: R28C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227789
Predicted Effect unknown
Transcript: ENSMUST00000228130
AA Change: R23W
Predicted Effect probably benign
Transcript: ENSMUST00000227843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228372
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Eny2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Eny2 APN 15 44432435 splice site probably null
IGL02667:Eny2 APN 15 44429588 missense possibly damaging 0.84
R0479:Eny2 UTSW 15 44435604 splice site probably null
R1681:Eny2 UTSW 15 44432478 missense probably damaging 0.99
R6197:Eny2 UTSW 15 44429553 splice site probably null
R6233:Eny2 UTSW 15 44433660 splice site probably null
R7239:Eny2 UTSW 15 44433854 missense probably benign 0.15
Posted On2015-04-16