Incidental Mutation 'R6917:Eno1b'
ID 554301
Institutional Source Beutler Lab
Gene Symbol Eno1b
Ensembl Gene ENSMUSG00000059040
Gene Name enolase 1B, retrotransposed
Synonyms Gm5506
MMRRC Submission 045038-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6917 (G1)
Quality Score 75.0075
Status Validated
Chromosome 18
Chromosomal Location 48178402-48181446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48180656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 278 (D278G)
Ref Sequence ENSEMBL: ENSMUSP00000075513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076155]
AlphaFold P17182
Predicted Effect probably benign
Transcript: ENSMUST00000076155
AA Change: D278G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: D278G

DomainStartEndE-ValueType
Enolase_N 3 134 4.75e-91 SMART
Enolase_C 142 431 1.22e-207 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,437,684 (GRCm39) probably null Het
Adcy2 A T 13: 68,768,876 (GRCm39) M1084K possibly damaging Het
Ak1 A G 2: 32,521,164 (GRCm39) Y95C possibly damaging Het
Akap6 A G 12: 53,115,951 (GRCm39) E1018G probably null Het
Ccdc175 A G 12: 72,231,679 (GRCm39) S27P probably damaging Het
Ddx31 C T 2: 28,782,421 (GRCm39) T588I probably damaging Het
Dmxl1 T C 18: 49,997,215 (GRCm39) W504R probably damaging Het
Echs1 T G 7: 139,689,924 (GRCm39) M239L probably benign Het
Eno3 A G 11: 70,552,262 (GRCm39) T305A probably benign Het
Gm5591 T A 7: 38,221,614 (GRCm39) S152C probably damaging Het
Gngt1 A G 6: 3,996,680 (GRCm39) D42G probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
H2-Aa T C 17: 34,502,681 (GRCm39) T79A probably damaging Het
Ice1 A T 13: 70,743,013 (GRCm39) Y2116N probably damaging Het
Kdm6b A G 11: 69,297,419 (GRCm39) M311T probably benign Het
L1td1 T C 4: 98,622,268 (GRCm39) F277L probably benign Het
Lamp1 T C 8: 13,222,563 (GRCm39) I249T probably damaging Het
Ldb3 G A 14: 34,277,321 (GRCm39) A351V probably null Het
Lmo7 A G 14: 102,155,446 (GRCm39) E996G probably damaging Het
Lsr T C 7: 30,657,721 (GRCm39) D413G possibly damaging Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Myo7a T C 7: 97,744,970 (GRCm39) E290G possibly damaging Het
Nos2 C T 11: 78,842,053 (GRCm39) T735M possibly damaging Het
Or10ak12 A T 4: 118,666,326 (GRCm39) L245H probably damaging Het
Or11h6 A G 14: 50,880,680 (GRCm39) K314R possibly damaging Het
Or8g36 T A 9: 39,422,495 (GRCm39) I174L probably damaging Het
Pik3c2g T C 6: 139,841,899 (GRCm39) L768P probably benign Het
Plod2 T A 9: 92,475,823 (GRCm39) V302D possibly damaging Het
Ptgdr A T 14: 45,096,067 (GRCm39) V215E possibly damaging Het
Rad51d C T 11: 82,770,159 (GRCm39) R199Q probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rtel1 ATT ATTTT 2: 180,980,070 (GRCm39) probably null Het
Sgip1 A G 4: 102,825,388 (GRCm39) R772G probably damaging Het
Slc19a2 C A 1: 164,088,578 (GRCm39) T141N probably damaging Het
Sp4 G T 12: 118,262,908 (GRCm39) N379K probably damaging Het
Thrap3 A G 4: 126,074,285 (GRCm39) probably benign Het
Thumpd2 T G 17: 81,351,543 (GRCm39) I293L probably benign Het
Tjp1 A G 7: 64,949,436 (GRCm39) S1649P probably damaging Het
Tssk4 A G 14: 55,889,864 (GRCm39) S326G probably benign Het
Txndc9 A C 1: 38,034,887 (GRCm39) S6A probably benign Het
Uhrf1 T C 17: 56,616,574 (GRCm39) Y131H probably damaging Het
Vnn3 A G 10: 23,741,832 (GRCm39) D379G possibly damaging Het
Vsig2 T A 9: 37,452,745 (GRCm39) S105T probably benign Het
Zfp445 A T 9: 122,691,359 (GRCm39) probably null Het
Zfp654 A T 16: 64,606,834 (GRCm39) M456K probably damaging Het
Other mutations in Eno1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Eno1b APN 18 48,180,558 (GRCm39) missense probably damaging 1.00
R0025:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0153:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0173:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0230:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0233:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0396:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R0597:Eno1b UTSW 18 48,180,806 (GRCm39) missense probably benign 0.01
R1834:Eno1b UTSW 18 48,180,530 (GRCm39) missense probably damaging 1.00
R2094:Eno1b UTSW 18 48,180,542 (GRCm39) missense possibly damaging 0.92
R2875:Eno1b UTSW 18 48,180,851 (GRCm39) missense possibly damaging 0.83
R4240:Eno1b UTSW 18 48,180,907 (GRCm39) missense probably benign
R4611:Eno1b UTSW 18 48,180,770 (GRCm39) missense probably damaging 1.00
R7114:Eno1b UTSW 18 48,180,560 (GRCm39) missense possibly damaging 0.88
R7217:Eno1b UTSW 18 48,180,746 (GRCm39) missense probably damaging 0.97
R7503:Eno1b UTSW 18 48,179,878 (GRCm39) missense probably damaging 1.00
R8061:Eno1b UTSW 18 48,180,725 (GRCm39) nonsense probably null
R9306:Eno1b UTSW 18 48,180,922 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATTCGCACCTAACATCCTGGAG -3'
(R):5'- TGGTTCACTTTGAGCAAGAGGC -3'

Sequencing Primer
(F):5'- CATCCTGGAGAACAAAGAAGCACTG -3'
(R):5'- AGAGGCAGTTGCAGGACTTCTC -3'
Posted On 2019-05-17