Incidental Mutation 'R6116:Eno3'
ID 485130
Institutional Source Beutler Lab
Gene Symbol Eno3
Ensembl Gene ENSMUSG00000060600
Gene Name enolase 3, beta muscle
Synonyms Eno-3
MMRRC Submission 044265-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R6116 (G1)
Quality Score 190.009
Status Not validated
Chromosome 11
Chromosomal Location 70548028-70553339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70552401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 351 (T351M)
Ref Sequence ENSEMBL: ENSMUSP00000128714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000126241] [ENSMUST00000129434] [ENSMUST00000170716] [ENSMUST00000134087] [ENSMUST00000157027]
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 possibly damaging
Transcript: ENSMUST00000072841
AA Change: T351M

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: T351M

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108548
AA Change: T351M

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: T351M

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 possibly damaging
Transcript: ENSMUST00000170716
AA Change: T351M

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: T351M

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect unknown
Transcript: ENSMUST00000179055
AA Change: T131M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179738
Predicted Effect probably benign
Transcript: ENSMUST00000134087
SMART Domains Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 78 3.53e-26 SMART
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,990,327 (GRCm39) probably benign Het
Apc A T 18: 34,449,508 (GRCm39) I2101F probably damaging Het
Bpifa3 G A 2: 153,975,633 (GRCm39) V68I possibly damaging Het
Csmd1 T A 8: 16,261,864 (GRCm39) I878F probably damaging Het
Cyp2c67 A T 19: 39,605,879 (GRCm39) M339K probably damaging Het
Dock3 A G 9: 106,809,161 (GRCm39) Y1321H probably damaging Het
Dsc1 G T 18: 20,230,356 (GRCm39) D316E probably benign Het
Erbb2 T A 11: 98,318,225 (GRCm39) F487Y probably damaging Het
Exosc10 T C 4: 148,657,810 (GRCm39) L652P probably benign Het
Glmn A T 5: 107,705,206 (GRCm39) M470K probably damaging Het
Gm15446 T A 5: 110,090,902 (GRCm39) C385S probably damaging Het
Hspa8 A G 9: 40,716,271 (GRCm39) E581G probably damaging Het
Igfn1 T C 1: 135,898,205 (GRCm39) D787G probably benign Het
Igkv12-44 T C 6: 69,791,838 (GRCm39) T42A possibly damaging Het
Itsn2 T C 12: 4,679,939 (GRCm39) probably benign Het
Jade2 T C 11: 51,726,460 (GRCm39) E84G probably damaging Het
Lpar3 T A 3: 145,946,352 (GRCm39) M10K possibly damaging Het
Lpin2 A G 17: 71,550,925 (GRCm39) D695G probably damaging Het
Mosmo T A 7: 120,325,418 (GRCm39) L7H probably damaging Het
Ms4a8a C T 19: 11,058,436 (GRCm39) A9T unknown Het
Myb T C 10: 21,030,653 (GRCm39) D48G probably damaging Het
Neurod6 T C 6: 55,655,776 (GRCm39) Y287C probably damaging Het
Olr1 T A 6: 129,476,947 (GRCm39) D106V probably damaging Het
Or11a4 A G 17: 37,536,459 (GRCm39) T148A probably benign Het
Or8b4 A G 9: 37,829,955 (GRCm39) M1V probably null Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Ppfia3 T C 7: 45,004,127 (GRCm39) Y505C probably damaging Het
Sdk2 T A 11: 113,745,190 (GRCm39) I702F probably damaging Het
Slc16a11 T C 11: 70,106,262 (GRCm39) F119L probably benign Het
Slc2a10 A C 2: 165,359,623 (GRCm39) T496P probably damaging Het
Slc7a2 T C 8: 41,353,206 (GRCm39) Y181H probably damaging Het
Spata31e5 G A 1: 28,817,780 (GRCm39) A84V probably benign Het
Stab2 G T 10: 86,743,054 (GRCm39) P1185Q probably damaging Het
Tcf7l2 T A 19: 55,907,446 (GRCm39) S335R probably damaging Het
Ttc41 G A 10: 86,594,952 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,467,092 (GRCm39) I812N probably damaging Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign 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
R5170:Eno3 UTSW 11 70,553,040 (GRCm39) missense probably benign 0.00
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'- ATCAGGCCCCTGTCTCTAAC -3'
(R):5'- AAGTCTTAGAGCCAAGTTGGG -3'

Sequencing Primer
(F):5'- TACCAGTGGTCTCCATTGAGGAC -3'
(R):5'- CCAAGTTGGGGGTCAGTCATAG -3'
Posted On 2017-08-16