Incidental Mutation 'IGL01777:Eno2'
ID154118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eno2
Ensembl Gene ENSMUSG00000004267
Gene Nameenolase 2, gamma neuronal
SynonymsNSE, Eno-2, D6Ertd375e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.437) question?
Stock #IGL01777
Quality Score
Status
Chromosome6
Chromosomal Location124760053-124769673 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124766637 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 113 (G113D)
Ref Sequence ENSEMBL: ENSMUSP00000119112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000112476] [ENSMUST00000127274] [ENSMUST00000135626] [ENSMUST00000138770] [ENSMUST00000149652] [ENSMUST00000151214] [ENSMUST00000156033] [ENSMUST00000204896]
Predicted Effect probably damaging
Transcript: ENSMUST00000004378
AA Change: G113D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: G113D

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Enolase_C 142 431 2.62e-207 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032218
SMART Domains Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Pfam:LRR_1 89 109 1.2e-2 PFAM
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112475
SMART Domains Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
internal_repeat_1 90 182 7.1e-5 PROSPERO
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112476
SMART Domains Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Enolase_C 71 312 9.08e-120 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125436
Predicted Effect probably benign
Transcript: ENSMUST00000127274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132492
Predicted Effect probably benign
Transcript: ENSMUST00000135626
SMART Domains Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147307
Predicted Effect probably damaging
Transcript: ENSMUST00000149652
AA Change: G113D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
AA Change: G113D

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Pfam:Enolase_C 142 162 4.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151214
Predicted Effect probably benign
Transcript: ENSMUST00000156033
SMART Domains Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 58 5.2e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204896
AA Change: G70D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: G70D

DomainStartEndE-ValueType
Enolase_N 3 91 8e-52 SMART
Enolase_C 99 388 1.3e-211 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Ccar1 T C 10: 62,780,577 I125V possibly damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 probably null Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Impa1 C T 3: 10,322,948 G138D probably damaging Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Magoh C A 4: 107,883,176 Q86K probably benign Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vmn2r43 T C 7: 8,255,273 I314V probably damaging Het
Vrtn T G 12: 84,648,922 S149A probably benign Het
Other mutations in Eno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Eno2 APN 6 124766655 missense probably damaging 1.00
IGL02286:Eno2 APN 6 124766580 missense probably damaging 0.98
IGL02723:Eno2 APN 6 124761663 missense probably damaging 1.00
IGL02883:Eno2 APN 6 124766209 missense probably damaging 1.00
IGL02950:Eno2 APN 6 124763118 missense probably damaging 1.00
IGL02956:Eno2 APN 6 124763119 missense probably damaging 1.00
IGL03405:Eno2 APN 6 124763885 missense probably benign 0.17
R0389:Eno2 UTSW 6 124762691 missense probably damaging 0.96
R0488:Eno2 UTSW 6 124763874 missense probably benign 0.01
R0662:Eno2 UTSW 6 124763811 missense probably damaging 1.00
R2047:Eno2 UTSW 6 124767696 splice site probably benign
R2081:Eno2 UTSW 6 124763125 missense probably damaging 1.00
R4439:Eno2 UTSW 6 124762959 intron probably benign
R4655:Eno2 UTSW 6 124763926 critical splice acceptor site probably null
R4672:Eno2 UTSW 6 124766146 missense probably damaging 1.00
R5308:Eno2 UTSW 6 124767093 missense probably damaging 0.99
R5778:Eno2 UTSW 6 124766298 missense probably damaging 1.00
R6516:Eno2 UTSW 6 124761709 splice site probably null
R6520:Eno2 UTSW 6 124767715 missense probably damaging 0.99
R6768:Eno2 UTSW 6 124767748 missense probably damaging 1.00
Posted On2014-02-04