Incidental Mutation 'R5577:Eno1'
ID 457964
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
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 150321178-150333336 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 150331067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 236 (Y236*)
Ref Sequence ENSEMBL: ENSMUSP00000079727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080149] [ENSMUST00000080926] [ENSMUST00000133839] [ENSMUST00000141931] [ENSMUST00000150175]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000080149
AA Change: Y168*
SMART Domains Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524
AA Change: Y168*

DomainStartEndE-ValueType
Enolase_N 1 66 2.91e-6 SMART
Enolase_C 74 363 1.22e-207 SMART
Predicted Effect probably null
Transcript: ENSMUST00000080926
AA Change: Y236*
SMART Domains Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
AA Change: Y236*

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q 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
B5639:Eno1 UTSW 4 150,329,569 (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
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
Predicted Primers
Posted On 2017-02-16