Incidental Mutation 'IGL01672:Eno4'
ID103532
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: 0.064) question?
Stock #IGL01672
Quality Score
Status
Chromosome19
Chromosomal Location58943425-58971421 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58943545 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 30 (N30S)
Ref Sequence ENSEMBL: ENSMUSP00000144272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054280] [ENSMUST00000200910]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054280
AA Change: N30S

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: N30S

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 possibly damaging
Transcript: ENSMUST00000200910
AA Change: N30S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: N30S

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,641,357 E203G probably damaging Het
AI314180 A G 4: 58,814,041 V1355A probably benign Het
Ano1 G T 7: 144,655,675 Q206K probably damaging Het
Ap4e1 T A 2: 127,052,189 S620T probably damaging Het
Arfip1 A T 3: 84,548,032 probably benign Het
Atp8a2 A T 14: 59,691,533 M1024K probably benign Het
Brap T C 5: 121,678,845 probably benign Het
Calcrl T A 2: 84,345,070 T287S probably damaging Het
Clptm1l G A 13: 73,607,873 probably null Het
Cpb1 T A 3: 20,275,421 Q47L probably null Het
Cse1l T C 2: 166,929,967 I402T probably damaging Het
Dnah17 A G 11: 118,042,160 S3591P probably damaging Het
Dst T G 1: 34,225,693 I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 R2194* probably null Het
Ero1l A C 14: 45,292,430 S349A probably benign Het
Fat1 C T 8: 45,040,700 T3938I probably benign Het
Focad T C 4: 88,360,590 probably null Het
Gnai3 A T 3: 108,109,459 I343N probably damaging Het
Golph3 T C 15: 12,349,557 V221A probably benign Het
Gpr153 C A 4: 152,279,913 S142* probably null Het
Itpr1 C A 6: 108,381,032 Y557* probably null Het
Nat8f5 A G 6: 85,817,952 Y9H probably damaging Het
Nbas T C 12: 13,379,649 V1045A possibly damaging Het
Nol8 T C 13: 49,675,407 V1047A possibly damaging Het
Olfr330 A C 11: 58,529,122 L288R probably benign Het
Olfr491 T A 7: 108,317,518 V208E probably benign Het
Osbpl1a G A 18: 12,766,824 T178I probably damaging Het
Palld T A 8: 61,877,502 I114F probably benign Het
Pcca A T 14: 122,690,145 Y440F probably benign Het
Pclo T C 5: 14,678,535 probably benign Het
Piwil1 T C 5: 128,749,973 M599T possibly damaging Het
Pkd1l2 T A 8: 117,080,732 Y189F possibly damaging Het
Plscr3 A G 11: 69,847,682 K91R possibly damaging Het
Rars A T 11: 35,808,553 C638S probably damaging Het
Relb T A 7: 19,611,694 H406L probably benign Het
Ros1 G T 10: 52,101,803 T1449K possibly damaging Het
Samd3 A T 10: 26,270,169 N364I possibly damaging Het
Scn2a T A 2: 65,751,934 I1542N probably damaging Het
Sdk1 T A 5: 142,185,175 M1931K probably benign Het
Sphk2 T C 7: 45,711,653 D309G possibly damaging Het
Stil T C 4: 115,032,789 S825P probably damaging Het
Swt1 C T 1: 151,394,608 probably null Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Xirp2 T A 2: 67,508,502 H362Q probably benign Het
Zfp451 C A 1: 33,762,166 M1056I probably benign Het
Zfp458 T A 13: 67,257,236 M380L probably benign Het
Other mutations in Eno4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Eno4 APN 19 58945665 splice site probably null
IGL03087:Eno4 APN 19 58962816 missense possibly damaging 0.55
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 intron 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
Posted On2014-01-21