Incidental Mutation 'IGL03405:Eno2'
ID421585
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: 0.265) question?
Stock #IGL03405
Quality Score
Status
Chromosome6
Chromosomal Location124760053-124769673 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124763885 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 236 (Y236F)
Ref Sequence ENSEMBL: ENSMUSP00000004378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000112476] [ENSMUST00000127274] [ENSMUST00000135626] [ENSMUST00000138770] [ENSMUST00000149652] [ENSMUST00000151214] [ENSMUST00000156033] [ENSMUST00000204896]
Predicted Effect probably benign
Transcript: ENSMUST00000004378
AA Change: Y236F

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: Y236F

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Enolase_C 142 431 2.62e-207 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112476
AA Change: Y117F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: Y117F

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 probably benign
Transcript: ENSMUST00000135626
AA Change: Y117F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267
AA Change: Y117F

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 benign
Transcript: ENSMUST00000149652
SMART Domains Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267

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 benign
Transcript: ENSMUST00000204896
AA Change: Y193F

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: Y193F

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Btbd3 G A 2: 138,279,761 M121I probably damaging Het
Caprin1 G A 2: 103,779,505 R143C probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nr2e1 G A 10: 42,568,381 A244V probably damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Retreg3 T C 11: 101,100,969 D46G probably damaging Het
Rtp2 A C 16: 23,927,576 S122A probably benign Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown Het
Other mutations in Eno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Eno2 APN 6 124766655 missense probably damaging 1.00
IGL01777:Eno2 APN 6 124766637 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
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
R7239:Eno2 UTSW 6 124768265 missense probably damaging 1.00
R7631:Eno2 UTSW 6 124767056 missense probably benign 0.00
R7867:Eno2 UTSW 6 124763174 missense probably damaging 1.00
R7950:Eno2 UTSW 6 124763174 missense probably damaging 1.00
Posted On2016-08-02