Incidental Mutation 'R4387:Eno4'
ID 326291
Institutional Source Beutler Lab
Gene Symbol Eno4
Ensembl Gene ENSMUSG00000048029
Gene Name enolase 4
Synonyms 6430537H07Rik
MMRRC Submission 041681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4387 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 58943425-58971421 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58953208 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 187 (V187D)
Ref Sequence ENSEMBL: ENSMUSP00000062584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054280] [ENSMUST00000200910] [ENSMUST00000202382]
AlphaFold Q8C042
Predicted Effect probably benign
Transcript: ENSMUST00000054280
AA Change: V187D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: V187D

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 benign
Transcript: ENSMUST00000200910
AA Change: V186D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: V186D

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 probably benign
Transcript: ENSMUST00000201123
Predicted Effect unknown
Transcript: ENSMUST00000202382
AA Change: V11D
SMART Domains Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: V11D

DomainStartEndE-ValueType
Blast:Enolase_N 1 88 1e-22 BLAST
Enolase_C 100 409 2.1e-45 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,316,574 (GRCm38) probably null Het
9930021J03Rik A G 19: 29,805,315 (GRCm38) probably benign Het
Adprm C T 11: 67,038,193 (GRCm38) R324K probably benign Het
AI481877 A T 4: 59,060,915 (GRCm38) C953S possibly damaging Het
Calcr T A 6: 3,707,581 (GRCm38) N240Y probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Cd209b A G 8: 3,925,960 (GRCm38) L67P probably damaging Het
Cp T C 3: 19,977,202 (GRCm38) V601A probably damaging Het
Cyp2a5 A G 7: 26,841,054 (GRCm38) D364G probably damaging Het
Fbxl7 C A 15: 26,543,259 (GRCm38) S434I probably damaging Het
Fbxw24 A T 9: 109,609,985 (GRCm38) L174Q probably damaging Het
Fryl T A 5: 73,086,560 (GRCm38) R91S possibly damaging Het
Gabrd A G 4: 155,388,932 (GRCm38) probably null Het
Gtpbp2 A G 17: 46,166,358 (GRCm38) D383G probably benign Het
Igf1r A G 7: 68,170,009 (GRCm38) I356V probably benign Het
Kcnc1 C A 7: 46,397,702 (GRCm38) R9S possibly damaging Het
Lipi T A 16: 75,573,955 (GRCm38) I125F probably damaging Het
Meig1 T C 2: 3,409,241 (GRCm38) E74G probably damaging Het
Mgat4d A T 8: 83,371,706 (GRCm38) Q366L probably damaging Het
Mrpl1 A G 5: 96,238,919 (GRCm38) N256D possibly damaging Het
Nlrp4e A G 7: 23,301,477 (GRCm38) K66E probably benign Het
Nlrp4e A G 7: 23,321,227 (GRCm38) I380V probably benign Het
Nphp3 A G 9: 104,030,020 (GRCm38) T740A possibly damaging Het
Olfr1080 T C 2: 86,553,954 (GRCm38) T57A probably damaging Het
Olfr1090 T A 2: 86,754,120 (GRCm38) D206V probably benign Het
Olfr262 A G 19: 12,241,139 (GRCm38) V174A probably damaging Het
Pde5a T C 3: 122,729,352 (GRCm38) I36T probably benign Het
Pign A T 1: 105,522,060 (GRCm38) L914M possibly damaging Het
Ppm1b A G 17: 85,015,419 (GRCm38) D382G probably benign Het
Psd3 T C 8: 68,000,761 (GRCm38) Y282C probably damaging Het
Ptprt A T 2: 161,927,650 (GRCm38) Y432N probably damaging Het
Rbbp6 T C 7: 122,997,311 (GRCm38) probably null Het
Recql4 A G 15: 76,705,958 (GRCm38) S659P probably benign Het
Rpl7a-ps3 G A 15: 36,308,283 (GRCm38) noncoding transcript Het
Slit3 T C 11: 35,684,048 (GRCm38) V1063A probably benign Het
Spdye4a A G 5: 143,225,623 (GRCm38) V62A probably benign Het
Ttc6 G A 12: 57,643,050 (GRCm38) G509S probably benign Het
Ush2a C T 1: 188,443,431 (GRCm38) T1242M probably benign Het
Wwc2 T C 8: 47,831,646 (GRCm38) S1155G unknown Het
Zfp551 A T 7: 12,418,641 (GRCm38) I55N probably damaging Het
Other mutations in Eno4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Eno4 APN 19 58,943,545 (GRCm38) missense possibly damaging 0.92
IGL02486:Eno4 APN 19 58,945,665 (GRCm38) splice site probably null
IGL03087:Eno4 APN 19 58,962,816 (GRCm38) missense possibly damaging 0.55
IGL03207:Eno4 APN 19 58,953,205 (GRCm38) missense probably benign 0.04
R0048:Eno4 UTSW 19 58,964,538 (GRCm38) missense possibly damaging 0.70
R0052:Eno4 UTSW 19 58,968,553 (GRCm38) missense probably damaging 1.00
R0052:Eno4 UTSW 19 58,968,553 (GRCm38) missense probably damaging 1.00
R0362:Eno4 UTSW 19 58,943,624 (GRCm38) splice site probably benign
R2376:Eno4 UTSW 19 58,953,226 (GRCm38) missense probably benign
R4678:Eno4 UTSW 19 58,946,749 (GRCm38) missense probably damaging 0.99
R4696:Eno4 UTSW 19 58,945,636 (GRCm38) missense probably damaging 0.96
R4896:Eno4 UTSW 19 58,964,543 (GRCm38) missense probably damaging 1.00
R4932:Eno4 UTSW 19 58,964,457 (GRCm38) missense possibly damaging 0.82
R5050:Eno4 UTSW 19 58,955,496 (GRCm38) missense probably benign 0.00
R5092:Eno4 UTSW 19 58,945,591 (GRCm38) missense probably benign 0.02
R5104:Eno4 UTSW 19 58,945,541 (GRCm38) missense probably benign 0.05
R5300:Eno4 UTSW 19 58,955,550 (GRCm38) critical splice donor site probably null
R5450:Eno4 UTSW 19 58,960,247 (GRCm38) missense possibly damaging 0.65
R5689:Eno4 UTSW 19 58,970,656 (GRCm38) missense probably benign 0.01
R5698:Eno4 UTSW 19 58,968,472 (GRCm38) splice site probably null
R5874:Eno4 UTSW 19 58,946,806 (GRCm38) missense probably benign
R6027:Eno4 UTSW 19 58,946,830 (GRCm38) missense probably damaging 1.00
R6316:Eno4 UTSW 19 58,960,291 (GRCm38) critical splice donor site probably null
R6494:Eno4 UTSW 19 58,962,794 (GRCm38) missense probably damaging 1.00
R6706:Eno4 UTSW 19 58,970,680 (GRCm38) missense probably benign 0.02
R7779:Eno4 UTSW 19 58,968,543 (GRCm38) missense probably benign 0.19
R8169:Eno4 UTSW 19 58,946,652 (GRCm38) missense probably benign
R8879:Eno4 UTSW 19 58,970,722 (GRCm38) missense probably benign 0.05
R9090:Eno4 UTSW 19 58,962,828 (GRCm38) missense probably benign 0.01
R9093:Eno4 UTSW 19 58,953,168 (GRCm38) nonsense probably null
R9271:Eno4 UTSW 19 58,962,828 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACCTTAGAGAACATGGCTTTCC -3'
(R):5'- GGATAAAACCTTGTCACCCAGC -3'

Sequencing Primer
(F):5'- CTTGAACAAGAAAAATGGCTTCGAC -3'
(R):5'- TTGTCACCCAGCACAGCAG -3'
Posted On 2015-07-06