Incidental Mutation 'IGL03087:Eno4'
ID418175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eno4
Ensembl Gene ENSMUSG00000048029
Gene Nameenolase 4
Synonyms6430537H07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03087
Quality Score
Status
Chromosome19
Chromosomal Location58943425-58971421 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58962816 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 420 (H420R)
Ref Sequence ENSEMBL: ENSMUSP00000062584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054280] [ENSMUST00000200910] [ENSMUST00000202382]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054280
AA Change: H420R

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: H420R

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: H419R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: H419R

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: H136R
Predicted Effect probably benign
Transcript: ENSMUST00000202382
AA Change: H244R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: H244R

DomainStartEndE-ValueType
Blast:Enolase_N 1 88 1e-22 BLAST
Enolase_C 100 409 2.1e-45 SMART
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Eno4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Eno4 APN 19 58943545 missense possibly damaging 0.92
IGL02486:Eno4 APN 19 58945665 splice site probably null
IGL03207:Eno4 APN 19 58953205 missense probably benign 0.04
R0048:Eno4 UTSW 19 58964538 missense possibly damaging 0.70
R0052:Eno4 UTSW 19 58968553 missense probably damaging 1.00
R0052:Eno4 UTSW 19 58968553 missense probably damaging 1.00
R0362:Eno4 UTSW 19 58943624 splice site probably benign
R2376:Eno4 UTSW 19 58953226 missense probably benign
R4387:Eno4 UTSW 19 58953208 missense probably benign 0.01
R4678:Eno4 UTSW 19 58946749 missense probably damaging 0.99
R4696:Eno4 UTSW 19 58945636 missense probably damaging 0.96
R4896:Eno4 UTSW 19 58964543 missense probably damaging 1.00
R4932:Eno4 UTSW 19 58964457 missense possibly damaging 0.82
R5050:Eno4 UTSW 19 58955496 missense probably benign 0.00
R5092:Eno4 UTSW 19 58945591 missense probably benign 0.02
R5104:Eno4 UTSW 19 58945541 missense probably benign 0.05
R5300:Eno4 UTSW 19 58955550 critical splice donor site probably null
R5450:Eno4 UTSW 19 58960247 missense possibly damaging 0.65
R5689:Eno4 UTSW 19 58970656 missense probably benign 0.01
R5698:Eno4 UTSW 19 58968472 splice site probably null
R5874:Eno4 UTSW 19 58946806 missense probably benign
R6027:Eno4 UTSW 19 58946830 missense probably damaging 1.00
R6316:Eno4 UTSW 19 58960291 critical splice donor site probably null
R6494:Eno4 UTSW 19 58962794 missense probably damaging 1.00
R6706:Eno4 UTSW 19 58970680 missense probably benign 0.02
R7779:Eno4 UTSW 19 58968543 missense probably benign 0.19
R8169:Eno4 UTSW 19 58946652 missense probably benign
Posted On2016-08-02