Incidental Mutation 'B5639:Eno1'
ID 553
Institutional Source Beutler Lab
Gene Symbol Eno1
Ensembl Gene ENSMUSG00000063524
Gene Name enolase 1, alpha non-neuron
Synonyms c-Myc promoter binding protein, 2-phospho-D-glycerate hydrolase, alpha-enolase, MBP-1, Eno-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # B5639 of strain 3d
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 150321178-150333336 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 150329569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080149] [ENSMUST00000080926] [ENSMUST00000133839] [ENSMUST00000141931] [ENSMUST00000150175]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000080149
SMART Domains Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524

DomainStartEndE-ValueType
Enolase_N 1 66 2.91e-6 SMART
Enolase_C 74 363 1.22e-207 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080926
SMART Domains Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524

DomainStartEndE-ValueType
Enolase_N 3 134 4.75e-91 SMART
Enolase_C 142 431 1.22e-207 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133789
Predicted Effect probably benign
Transcript: ENSMUST00000133839
SMART Domains Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524

DomainStartEndE-ValueType
Enolase_N 3 134 7.66e-86 SMART
Enolase_C 142 221 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151057
Predicted Effect probably benign
Transcript: ENSMUST00000141931
SMART Domains Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524

DomainStartEndE-ValueType
Enolase_N 3 67 6.31e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150175
SMART Domains Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524

DomainStartEndE-ValueType
Enolase_N 3 119 2.31e-71 SMART
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 78.3%
Het Detection Efficiency 55.9%
Validation Efficiency 83% (206/248)
MGI Phenotype PHENOTYPE: Homozygous animals exhibit growth arrest and embryonic lethality at approximately E6.5. [provided by MGI curators]
Allele List at MGI

All alleles(59) : Targeted, knock-out(1) Gene trapped(58)
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnmt1 G A 9: 20,819,264 (GRCm39) probably benign Het
Ercc8 G A 13: 108,297,257 (GRCm39) G56R probably damaging Homo
Fam237b C T 5: 5,624,060 (GRCm39) probably benign Homo
Idh1 A G 1: 65,204,257 (GRCm39) probably null Homo
Incenp G A 19: 9,871,182 (GRCm39) T149I unknown Het
Or5d16 G A 2: 87,773,942 (GRCm39) S10F probably benign Het
Or5k17 A T 16: 58,746,889 (GRCm39) I15K probably benign Homo
Pdk2 T C 11: 94,923,324 (GRCm39) D100G possibly damaging Homo
Prss56 T C 1: 87,114,892 (GRCm39) L465P probably benign Homo
Slc10a3 G A X: 73,413,145 (GRCm39) P416L probably damaging Homo
Syne2 C A 12: 75,976,564 (GRCm39) T1243K probably benign Het
Vwf T C 6: 125,619,947 (GRCm39) Y1542H probably damaging Homo
Zc3h13 G A 14: 75,553,479 (GRCm39) R302Q probably damaging Het
Zfhx4 G T 3: 5,468,235 (GRCm39) G2798W probably damaging Homo
Zfp667 A G 7: 6,293,544 (GRCm39) T15A probably damaging Het
Other mutations in Eno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Eno1 APN 4 150,331,167 (GRCm39) missense probably benign 0.03
IGL01992:Eno1 APN 4 150,323,993 (GRCm39) missense probably damaging 1.00
IGL03114:Eno1 APN 4 150,325,583 (GRCm39) missense probably benign 0.01
IGL03133:Eno1 APN 4 150,329,801 (GRCm39) unclassified probably benign
R1387:Eno1 UTSW 4 150,332,590 (GRCm39) unclassified probably benign
R1957:Eno1 UTSW 4 150,331,232 (GRCm39) splice site probably null
R3835:Eno1 UTSW 4 150,331,119 (GRCm39) missense probably benign 0.08
R3925:Eno1 UTSW 4 150,324,025 (GRCm39) critical splice donor site probably null
R4178:Eno1 UTSW 4 150,328,490 (GRCm39) missense possibly damaging 0.94
R5577:Eno1 UTSW 4 150,331,067 (GRCm39) nonsense probably null
R5790:Eno1 UTSW 4 150,329,710 (GRCm39) missense probably benign 0.01
R6369:Eno1 UTSW 4 150,324,025 (GRCm39) critical splice donor site probably null
R6377:Eno1 UTSW 4 150,333,009 (GRCm39) missense possibly damaging 0.78
R7305:Eno1 UTSW 4 150,329,796 (GRCm39) critical splice donor site probably null
R8116:Eno1 UTSW 4 150,325,526 (GRCm39) missense probably damaging 0.97
R8342:Eno1 UTSW 4 150,329,693 (GRCm39) missense probably damaging 1.00
R9203:Eno1 UTSW 4 150,332,539 (GRCm39) nonsense probably null
R9441:Eno1 UTSW 4 150,321,208 (GRCm39) start gained probably benign
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 149619221 in the Genbank genomic region NC_000070 (Build 37.1) for the Eno1 gene on Chromosome 4 (CTTCTCCAAG ->CTTCTCCGAG).  The mutation is located within intron 5 from the ATG exon, three nucleotides to the next exon. The Eno1 gene contains 12 total exons using Genbank record NM_023119. Multiple transcripts of the Eno1gene are displayed on Ensembl and Vega.  The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).


    

  
    

      Protein Function and Prediction
      

	The Eno1 gene encodes the 434 amino acid alpha-enolase.  Enolase is a glycolytic enzyme (2-phospho-D-glycerate hydrolyase) and is a mulltifunctional enzyme involved in growth control, hypoxia tolerance and allergic responses. The protein serves as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons, and stimulates immunoglobulin production. The enolase isoforms can form homodimers or heterodimers that are cell-type and development-specific (Uniprot P17182). Homozygous knockout mice exhibit growth arrest and embryonic lethality at approximately E6.5.


    

  
  
  

    Posted On
    2010-11-19