Incidental Mutation 'R6494:Eno4'
ID 522989
Institutional Source Beutler Lab
Gene Symbol Eno4
Ensembl Gene ENSMUSG00000048029
Gene Name enolase 4
Synonyms 6430537H07Rik
MMRRC Submission 044626-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6494 (G1)
Quality Score 211.009
Status Validated
Chromosome 19
Chromosomal Location 58931857-58959853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58951226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 237 (Y237N)
Ref Sequence ENSEMBL: ENSMUSP00000144656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054280] [ENSMUST00000200910] [ENSMUST00000202382]
AlphaFold Q8C042
Predicted Effect probably damaging
Transcript: ENSMUST00000054280
AA Change: Y413N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: Y413N

DomainStartEndE-ValueType
Blast:Enolase_C 29 55 6e-8 BLAST
Enolase_N 69 264 1.06e-20 SMART
Enolase_C 276 585 7.85e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200910
AA Change: Y412N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: Y412N

DomainStartEndE-ValueType
Blast:Enolase_C 29 55 6e-8 BLAST
Enolase_N 68 263 1.06e-20 SMART
Enolase_C 275 584 7.85e-42 SMART
Predicted Effect unknown
Transcript: ENSMUST00000201123
AA Change: Y129N
Predicted Effect probably damaging
Transcript: ENSMUST00000202382
AA Change: Y237N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: Y237N

DomainStartEndE-ValueType
Blast:Enolase_N 1 88 1e-22 BLAST
Enolase_C 100 409 2.1e-45 SMART
Meta Mutation Damage Score 0.4087 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility associated with abnormal sperm morphology, number and motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,315,774 (GRCm39) L52P possibly damaging Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chic2 T C 5: 75,204,943 (GRCm39) E6G probably benign Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Col5a2 C A 1: 45,417,487 (GRCm39) D1363Y probably damaging Het
Csmd1 C T 8: 16,261,709 (GRCm39) probably null Het
Dnah7b A T 1: 46,138,591 (GRCm39) Y211F probably damaging Het
Efcab3 A T 11: 104,990,845 (GRCm39) Y5460F possibly damaging Het
Efcab6 T A 15: 83,928,523 (GRCm39) probably null Het
Fer1l4 T A 2: 155,887,390 (GRCm39) D602V probably benign Het
Fgfr2 T C 7: 129,800,280 (GRCm39) N337S probably damaging Het
Fras1 C T 5: 96,907,423 (GRCm39) R3203C possibly damaging Het
Gbp2 T A 3: 142,337,769 (GRCm39) V295E probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Hyal4 A G 6: 24,765,745 (GRCm39) I366M possibly damaging Het
Itsn2 C T 12: 4,684,792 (GRCm39) R448* probably null Het
Klhl35 G T 7: 99,122,106 (GRCm39) W69L probably damaging Het
Kpnb1 T C 11: 97,072,474 (GRCm39) I154V probably benign Het
Lax1 T A 1: 133,608,186 (GRCm39) Y185F probably damaging Het
Mmp12 C T 9: 7,353,479 (GRCm39) P208L probably damaging Het
Ndufb8 C T 19: 44,543,744 (GRCm39) V33M probably null Het
Nptn T G 9: 58,531,035 (GRCm39) C169G probably damaging Het
Nuggc A T 14: 65,885,671 (GRCm39) E766V probably damaging Het
Or10ag55-ps1 A T 2: 87,139,520 (GRCm39) N149I possibly damaging Het
Or12e14 A T 2: 87,187,976 (GRCm39) K63* probably null Het
Pcdhga6 T A 18: 37,841,594 (GRCm39) I438N probably damaging Het
Pkn2 T C 3: 142,509,429 (GRCm39) N721S possibly damaging Het
Pole T C 5: 110,472,588 (GRCm39) W1590R possibly damaging Het
Prph2 A G 17: 47,222,007 (GRCm39) T129A probably benign Het
Ptpro A T 6: 137,359,640 (GRCm39) K403N probably benign Het
Rbck1 T C 2: 152,172,886 (GRCm39) D54G possibly damaging Het
Serpinb7 T A 1: 107,363,076 (GRCm39) L80* probably null Het
Setdb2 T A 14: 59,639,863 (GRCm39) Y676F probably benign Het
Skint1 G T 4: 111,867,909 (GRCm39) C12F probably benign Het
Slc22a26 T A 19: 7,779,651 (GRCm39) D55V probably damaging Het
Slc9a8 G A 2: 167,266,211 (GRCm39) V63I probably damaging Het
Sox2 T A 3: 34,705,246 (GRCm39) S228T probably benign Het
Spata31g1 A G 4: 42,971,924 (GRCm39) N419S possibly damaging Het
Spg11 A G 2: 121,943,706 (GRCm39) S149P probably damaging Het
Tbc1d19 T A 5: 53,986,725 (GRCm39) S45T probably benign Het
Tsacc T C 3: 88,202,703 (GRCm39) E11G probably benign Het
Ttc7b C T 12: 100,461,666 (GRCm39) A104T possibly damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Zfp108 T A 7: 23,960,782 (GRCm39) F458I probably damaging Het
Zfp616 A T 11: 73,976,018 (GRCm39) K762N probably damaging Het
Other mutations in Eno4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Eno4 APN 19 58,931,977 (GRCm39) missense possibly damaging 0.92
IGL02486:Eno4 APN 19 58,934,097 (GRCm39) splice site probably null
IGL03087:Eno4 APN 19 58,951,248 (GRCm39) missense possibly damaging 0.55
IGL03207:Eno4 APN 19 58,941,637 (GRCm39) missense probably benign 0.04
R0048:Eno4 UTSW 19 58,952,970 (GRCm39) missense possibly damaging 0.70
R0052:Eno4 UTSW 19 58,956,985 (GRCm39) missense probably damaging 1.00
R0052:Eno4 UTSW 19 58,956,985 (GRCm39) missense probably damaging 1.00
R0362:Eno4 UTSW 19 58,932,056 (GRCm39) splice site probably benign
R2376:Eno4 UTSW 19 58,941,658 (GRCm39) missense probably benign
R4387:Eno4 UTSW 19 58,941,640 (GRCm39) missense probably benign 0.01
R4678:Eno4 UTSW 19 58,935,181 (GRCm39) missense probably damaging 0.99
R4696:Eno4 UTSW 19 58,934,068 (GRCm39) missense probably damaging 0.96
R4896:Eno4 UTSW 19 58,952,975 (GRCm39) missense probably damaging 1.00
R4932:Eno4 UTSW 19 58,952,889 (GRCm39) missense possibly damaging 0.82
R5050:Eno4 UTSW 19 58,943,928 (GRCm39) missense probably benign 0.00
R5092:Eno4 UTSW 19 58,934,023 (GRCm39) missense probably benign 0.02
R5104:Eno4 UTSW 19 58,933,973 (GRCm39) missense probably benign 0.05
R5300:Eno4 UTSW 19 58,943,982 (GRCm39) critical splice donor site probably null
R5450:Eno4 UTSW 19 58,948,679 (GRCm39) missense possibly damaging 0.65
R5689:Eno4 UTSW 19 58,959,088 (GRCm39) missense probably benign 0.01
R5698:Eno4 UTSW 19 58,956,904 (GRCm39) splice site probably null
R5874:Eno4 UTSW 19 58,935,238 (GRCm39) missense probably benign
R6027:Eno4 UTSW 19 58,935,262 (GRCm39) missense probably damaging 1.00
R6316:Eno4 UTSW 19 58,948,723 (GRCm39) critical splice donor site probably null
R6706:Eno4 UTSW 19 58,959,112 (GRCm39) missense probably benign 0.02
R7779:Eno4 UTSW 19 58,956,975 (GRCm39) missense probably benign 0.19
R8169:Eno4 UTSW 19 58,935,084 (GRCm39) missense probably benign
R8879:Eno4 UTSW 19 58,959,154 (GRCm39) missense probably benign 0.05
R9090:Eno4 UTSW 19 58,951,260 (GRCm39) missense probably benign 0.01
R9093:Eno4 UTSW 19 58,941,600 (GRCm39) nonsense probably null
R9271:Eno4 UTSW 19 58,951,260 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTGAAGAGTTCTCCCTGGG -3'
(R):5'- GGTGAGAACGCTTACTTTATCCCG -3'

Sequencing Primer
(F):5'- TTCTCCCTGGGGCATCAAAGAC -3'
(R):5'- CCCGTGTAAAATATATGTTCTGAGAC -3'
Posted On 2018-06-06