Incidental Mutation 'R7217:Eno1b'
ID561561
Institutional Source Beutler Lab
Gene Symbol Eno1b
Ensembl Gene ENSMUSG00000059040
Gene Nameenolase 1B, retrotransposed
SynonymsGm5506
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #R7217 (G1)
Quality Score225.009
Status Validated
Chromosome18
Chromosomal Location48045335-48048378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 48047679 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 308 (T308K)
Ref Sequence ENSEMBL: ENSMUSP00000075513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076155]
Predicted Effect probably damaging
Transcript: ENSMUST00000076155
AA Change: T308K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: T308K

DomainStartEndE-ValueType
Enolase_N 3 134 4.75e-91 SMART
Enolase_C 142 431 1.22e-207 SMART
Meta Mutation Damage Score 0.0248 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
MGI Phenotype FUNCTION: This gene may represent an evolving pseudogene of the alpha-enolase (enolase 1, alpha non-neuron) gene, which has multiple pseudogenes. This gene has an intact open reading frame as well as strong transcriptional support. The length of encoded protein is conserved, compared to the original enolase 1 protein. The exact function of this gene is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,646,926 H358N probably benign Het
Abcg3 A G 5: 104,939,228 F543L possibly damaging Het
Asnsd1 T C 1: 53,348,193 T92A probably damaging Het
Atg2a G T 19: 6,253,441 probably null Het
Aven T A 2: 112,630,846 N327K possibly damaging Het
Brd9 T C 13: 73,938,944 V116A probably damaging Het
Car14 A G 3: 95,899,317 S250P probably damaging Het
Ccdc138 T C 10: 58,509,600 I138T probably benign Het
Cmya5 A G 13: 93,090,430 Y2717H probably damaging Het
Epha3 T C 16: 63,552,494 T949A probably benign Het
Fcrl5 C T 3: 87,443,774 T197M probably damaging Het
Foxp2 A T 6: 15,416,024 Q664L unknown Het
Fsip2 A T 2: 82,989,068 K5048N possibly damaging Het
Gcnt4 T C 13: 96,946,310 L38P probably damaging Het
Gm11127 A C 17: 36,056,343 M329R probably benign Het
Gpr68 A G 12: 100,878,799 V162A possibly damaging Het
Grin3a A T 4: 49,770,741 M677K possibly damaging Het
Grm7 A G 6: 111,358,824 Y732C probably damaging Het
Hoxb4 A G 11: 96,319,080 E104G probably benign Het
Kat7 A G 11: 95,291,564 S237P possibly damaging Het
Kif13b T C 14: 64,773,068 V1272A probably damaging Het
Kif20a T A 18: 34,629,560 H495Q probably benign Het
Lama1 A T 17: 67,764,673 T852S Het
Mep1b T A 18: 21,093,543 D487E probably benign Het
Mki67 T C 7: 135,704,182 T656A probably damaging Het
Mlh3 A G 12: 85,266,707 W902R probably benign Het
Muc16 A T 9: 18,644,076 Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,595,266 probably benign Het
Pkd1l2 A G 8: 116,995,797 I2424T probably benign Het
Prl8a2 A G 13: 27,351,015 E91G possibly damaging Het
Prpf18 A G 2: 4,645,624 V65A probably benign Het
Pxmp2 A G 5: 110,285,905 V34A probably damaging Het
Ranbp2 T G 10: 58,452,017 Y36D probably damaging Het
Rbm25 G A 12: 83,664,217 R368Q unknown Het
Rims2 C A 15: 39,476,489 L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Scn8a A T 15: 100,970,227 M318L probably benign Het
Slc35b2 A G 17: 45,565,029 T55A probably benign Het
Trnp1 T C 4: 133,498,105 E118G possibly damaging Het
Ttll13 A C 7: 80,254,163 K280Q probably damaging Het
Wdfy3 A T 5: 101,901,919 H1680Q probably damaging Het
Zfp131 A G 13: 119,775,841 I327T probably damaging Het
Zfp729b A G 13: 67,595,248 V66A probably damaging Het
Other mutations in Eno1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Eno1b APN 18 48047491 missense probably damaging 1.00
R0025:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0153:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0173:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0230:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0233:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0396:Eno1b UTSW 18 48047739 missense probably benign 0.01
R0597:Eno1b UTSW 18 48047739 missense probably benign 0.01
R1834:Eno1b UTSW 18 48047463 missense probably damaging 1.00
R2094:Eno1b UTSW 18 48047475 missense possibly damaging 0.92
R2875:Eno1b UTSW 18 48047784 missense possibly damaging 0.83
R4240:Eno1b UTSW 18 48047840 missense probably benign
R4611:Eno1b UTSW 18 48047703 missense probably damaging 1.00
R6917:Eno1b UTSW 18 48047589 missense probably benign
R7114:Eno1b UTSW 18 48047493 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ACAGGTCTGGCAAGTATGACC -3'
(R):5'- ACCAGGTCTGCGATGAAAGTG -3'

Sequencing Primer
(F):5'- GCAAGTATGACCTGGACTTCAAGTC -3'
(R):5'- CTGCGATGAAAGTGTCCTCAG -3'
Posted On2019-06-26