Incidental Mutation 'IGL01705:Eny2'
ID104577
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: 0.902) question?
Stock #IGL01705
Quality Score
Status
Chromosome15
Chromosomal Location44428042-44438256 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 44432435 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038719] [ENSMUST00000060652] [ENSMUST00000226336] [ENSMUST00000226355] [ENSMUST00000226606] [ENSMUST00000226827] [ENSMUST00000227425] [ENSMUST00000227843] [ENSMUST00000228130]
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 null
Transcript: ENSMUST00000060652
SMART Domains Protein: ENSMUSP00000052905
Gene: ENSMUSG00000022338

DomainStartEndE-ValueType
Pfam:EnY2 13 95 5.7e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177971
Predicted Effect probably benign
Transcript: ENSMUST00000226336
Predicted Effect probably benign
Transcript: ENSMUST00000226355
Predicted Effect probably benign
Transcript: ENSMUST00000226606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226660
Predicted Effect probably null
Transcript: ENSMUST00000226827
Predicted Effect probably benign
Transcript: ENSMUST00000227425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227789
Predicted Effect probably benign
Transcript: ENSMUST00000227843
Predicted Effect probably benign
Transcript: ENSMUST00000228130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232353
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,032,966 T1077A possibly damaging Het
Akap13 T C 7: 75,746,767 V2504A possibly damaging Het
Anks3 A T 16: 4,947,723 W172R probably benign Het
Asap2 T A 12: 21,249,368 N633K possibly damaging Het
Astn1 A T 1: 158,504,313 S326C probably damaging Het
Cachd1 A G 4: 100,983,539 K900E possibly damaging Het
Cd5 A T 19: 10,726,295 probably null Het
D130043K22Rik T A 13: 24,857,941 N284K probably benign Het
Dtna C T 18: 23,545,731 A38V probably damaging Het
Grm5 A G 7: 88,130,046 Q930R possibly damaging Het
Igkv4-73 A T 6: 69,197,725 noncoding transcript Het
Lama2 A T 10: 27,189,274 probably benign Het
Lipg A G 18: 74,947,971 probably null Het
Mettl7b T A 10: 128,958,862 I198F probably benign Het
Neto2 T C 8: 85,641,003 K371E probably damaging Het
Olfr965 T C 9: 39,719,581 M118T possibly damaging Het
Paxbp1 A G 16: 91,016,988 F834L probably benign Het
Paxip1 A T 5: 27,748,859 S946R probably damaging Het
Pclo A G 5: 14,677,865 probably benign Het
Plcg2 T C 8: 117,581,662 L331P probably damaging Het
Reep1 A G 6: 71,773,288 T95A probably damaging Het
Rfx2 A G 17: 56,785,303 Y332H possibly damaging Het
Smchd1 A T 17: 71,381,398 D1288E probably damaging Het
Spag17 A G 3: 100,022,730 M582V probably benign Het
Susd1 A G 4: 59,332,931 probably benign Het
Syt9 T G 7: 107,436,352 L192R probably damaging Het
Tlr6 T C 5: 64,954,130 K478R probably benign Het
Tmem115 G T 9: 107,535,204 L242F probably benign Het
Tnfaip1 T C 11: 78,525,468 D263G probably benign Het
Ubqln3 T A 7: 104,142,677 I69F probably damaging Het
Vps52 T C 17: 33,966,068 L712P probably damaging Het
Other mutations in Eny2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02667:Eny2 APN 15 44429588 missense possibly damaging 0.84
IGL02749:Eny2 APN 15 44429635 missense possibly damaging 0.85
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 intron probably null
Posted On2014-01-21