Incidental Mutation 'R5170:Eno3'
ID 478108
Institutional Source Beutler Lab
Gene Symbol Eno3
Ensembl Gene ENSMUSG00000060600
Gene Name enolase 3, beta muscle
Synonyms Eno-3
MMRRC Submission 042750-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R5170 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70548028-70553339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70553040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 393 (I393V)
Ref Sequence ENSEMBL: ENSMUSP00000128714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000126241] [ENSMUST00000129434] [ENSMUST00000170716] [ENSMUST00000157027] [ENSMUST00000134087]
AlphaFold P21550
Predicted Effect probably benign
Transcript: ENSMUST00000018431
SMART Domains Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287

DomainStartEndE-ValueType
R3H 31 109 3.85e-21 SMART
low complexity region 130 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072841
AA Change: I393V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: I393V

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108548
AA Change: I393V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: I393V

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124691
Predicted Effect probably benign
Transcript: ENSMUST00000126241
SMART Domains Protein: ENSMUSP00000123688
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 70 7.82e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129434
SMART Domains Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287

DomainStartEndE-ValueType
R3H 22 99 3.06e-15 SMART
low complexity region 120 142 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000179055
AA Change: I173V
Predicted Effect probably benign
Transcript: ENSMUST00000170716
AA Change: I393V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: I393V

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137691
Predicted Effect probably benign
Transcript: ENSMUST00000157027
SMART Domains Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Pfam:Enolase_C 142 196 1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134087
SMART Domains Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 78 3.53e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes one of the three enolase isoenzymes found in vertebrates. Enolase is a dimeric enzyme that converts 2-phosphoglycerate to phosphoenolpyruvate as part of the glycolytic pathway. This isozyme is found in skeletal muscle where it is involved in muscle development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,745,969 (GRCm39) I51V probably benign Het
Agbl2 A G 2: 90,633,541 (GRCm39) K559R probably benign Het
Arhgap30 A G 1: 171,235,618 (GRCm39) D664G probably benign Het
BC034090 A G 1: 155,089,396 (GRCm39) V798A probably damaging Het
Bdp1 A T 13: 100,167,302 (GRCm39) C2237* probably null Het
C3 C T 17: 57,530,938 (GRCm39) V388M probably damaging Het
Ccdc170 G A 10: 4,464,200 (GRCm39) E60K probably damaging Het
Cdh8 G A 8: 100,006,182 (GRCm39) T135M probably damaging Het
Cep131 G T 11: 119,961,435 (GRCm39) A572E probably damaging Het
Clec16a A G 16: 10,559,655 (GRCm39) Y976C probably benign Het
Cplx3 G A 9: 57,522,902 (GRCm39) R153* probably null Het
Defa41 A T 8: 21,691,696 (GRCm39) D26V probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Fbxo47 A G 11: 97,748,520 (GRCm39) V305A probably benign Het
Fry G A 5: 150,353,319 (GRCm39) V1779M probably benign Het
Gtse1 T C 15: 85,748,465 (GRCm39) probably null Het
Gucy2e A T 11: 69,126,396 (GRCm39) L328Q probably damaging Het
Ifi207 T C 1: 173,558,064 (GRCm39) T225A unknown Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lamc3 A T 2: 31,777,356 (GRCm39) M1L probably benign Het
Myo16 A G 8: 10,619,745 (GRCm39) D1432G probably benign Het
Nwd2 A T 5: 63,963,380 (GRCm39) N988I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp14 T C 16: 35,677,649 (GRCm39) E773G probably benign Het
Psen1 T A 12: 83,761,636 (GRCm39) M146K probably damaging Het
Ptx4 G A 17: 25,342,152 (GRCm39) R209Q probably benign Het
Slc13a2 T C 11: 78,291,634 (GRCm39) T340A probably damaging Het
St8sia1 T C 6: 142,909,434 (GRCm39) K21E probably damaging Het
Stxbp1 T C 2: 32,684,686 (GRCm39) D581G probably benign Het
Sumo2 G A 11: 115,425,486 (GRCm39) probably benign Het
Supt5 G A 7: 28,015,508 (GRCm39) P910S probably benign Het
Tbc1d30 T C 10: 121,142,743 (GRCm39) Q158R possibly damaging Het
Tenm2 T A 11: 35,915,633 (GRCm39) H1968L probably damaging Het
Trmt1 T C 8: 85,421,861 (GRCm39) Y220H probably damaging Het
Trp73 C T 4: 154,189,295 (GRCm39) E60K possibly damaging Het
Ttn A G 2: 76,617,413 (GRCm39) Y8026H probably damaging Het
Zar1l A G 5: 150,441,050 (GRCm39) probably null Het
Zfp740 T C 15: 102,117,640 (GRCm39) Y117H probably damaging Het
Zfp941 G A 7: 140,392,870 (GRCm39) probably benign Het
Zp1 C A 19: 10,897,918 (GRCm39) V8F possibly damaging Het
Other mutations in Eno3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Eno3 APN 11 70,551,714 (GRCm39) splice site probably benign
IGL02591:Eno3 APN 11 70,552,853 (GRCm39) missense probably damaging 1.00
IGL02868:Eno3 APN 11 70,552,826 (GRCm39) missense probably damaging 1.00
R7060_eno3_205 UTSW 11 70,552,245 (GRCm39) missense possibly damaging 0.95
R0242:Eno3 UTSW 11 70,548,761 (GRCm39) missense probably null 1.00
R0242:Eno3 UTSW 11 70,548,761 (GRCm39) missense probably null 1.00
R0970:Eno3 UTSW 11 70,551,628 (GRCm39) missense probably damaging 1.00
R1518:Eno3 UTSW 11 70,551,903 (GRCm39) nonsense probably null
R1587:Eno3 UTSW 11 70,552,296 (GRCm39) missense probably damaging 0.99
R1663:Eno3 UTSW 11 70,553,100 (GRCm39) critical splice donor site probably null
R1675:Eno3 UTSW 11 70,549,492 (GRCm39) critical splice donor site probably null
R1758:Eno3 UTSW 11 70,552,251 (GRCm39) missense possibly damaging 0.77
R3983:Eno3 UTSW 11 70,552,237 (GRCm39) missense probably damaging 0.98
R4990:Eno3 UTSW 11 70,549,473 (GRCm39) missense probably damaging 0.99
R4992:Eno3 UTSW 11 70,549,473 (GRCm39) missense probably damaging 0.99
R6116:Eno3 UTSW 11 70,552,401 (GRCm39) missense possibly damaging 0.70
R6917:Eno3 UTSW 11 70,552,262 (GRCm39) missense probably benign
R7060:Eno3 UTSW 11 70,552,245 (GRCm39) missense possibly damaging 0.95
R7128:Eno3 UTSW 11 70,549,430 (GRCm39) missense possibly damaging 0.76
R7678:Eno3 UTSW 11 70,549,993 (GRCm39) splice site probably null
R7696:Eno3 UTSW 11 70,552,809 (GRCm39) missense probably benign 0.00
R7954:Eno3 UTSW 11 70,552,006 (GRCm39) missense probably benign 0.01
R8969:Eno3 UTSW 11 70,551,691 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GACACTTTCATCGCTGACCTTG -3'
(R):5'- TGGCCTTTGGATTACGGAAC -3'

Sequencing Primer
(F):5'- GTGGTGGGACTCTGCACAG -3'
(R):5'- AAGACAGCTTTGTCCCCAAGAG -3'
Posted On 2017-05-25