Incidental Mutation 'IGL02689:Eif3l'
ID303661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3l
Ensembl Gene ENSMUSG00000033047
Gene Nameeukaryotic translation initiation factor 3, subunit L
SynonymsD15N1e, Eif3s6ip, Eif3eip, PAF67, 0610011H21Rik, HSP-66Y
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL02689
Quality Score
Status
Chromosome15
Chromosomal Location79075179-79094405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79086519 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 331 (D331V)
Ref Sequence ENSEMBL: ENSMUSP00000038839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040518]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040518
AA Change: D331V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038839
Gene: ENSMUSG00000033047
AA Change: D331V

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:Paf67 152 550 7e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230032
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,917,455 A235S probably benign Het
Add2 A G 6: 86,107,406 I479V possibly damaging Het
Anapc11 T A 11: 120,599,342 M28K probably benign Het
Anapc15-ps T C 10: 95,673,131 S87G probably benign Het
Atraid T C 5: 31,052,482 L46P probably damaging Het
Ccdc80 T A 16: 45,096,409 Y509* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cecr2 T A 6: 120,762,167 L1257Q probably damaging Het
Csn1s2b A G 5: 87,809,921 I5V probably benign Het
Dhps T C 8: 85,073,750 Y221H possibly damaging Het
Dmxl1 T C 18: 49,864,895 S717P probably damaging Het
Dppa5a G T 9: 78,367,831 S63Y probably damaging Het
Folh1 G T 7: 86,763,045 probably null Het
Gbp9 G T 5: 105,105,796 Q18K probably benign Het
Grm5 A G 7: 87,602,710 K56R probably damaging Het
H2-M3 T A 17: 37,270,541 Y31* probably null Het
Herc2 T C 7: 56,165,283 probably benign Het
Itga7 G T 10: 128,946,818 A675S possibly damaging Het
Lipo5 G A 19: 33,467,786 H128Y unknown Het
Olfr1344 T C 7: 6,440,575 L225P possibly damaging Het
Olfr1480 A G 19: 13,529,807 I89V probably benign Het
Pdk4 C T 6: 5,487,408 V281I probably benign Het
Pkn3 G A 2: 30,080,846 G202D probably damaging Het
Rcbtb1 A G 14: 59,224,700 N260S probably damaging Het
Sipa1l1 T C 12: 82,440,820 F1623L probably benign Het
Slfn8 A G 11: 83,017,108 F203S probably damaging Het
St6gal2 T C 17: 55,482,595 L210S probably damaging Het
Taf5 T C 19: 47,077,265 probably benign Het
Taok2 A G 7: 126,876,098 F226S probably damaging Het
Timm10b A G 7: 105,640,632 probably benign Het
Tmx3 A G 18: 90,537,116 N319S possibly damaging Het
Trmt1 G T 8: 84,699,756 probably benign Het
Other mutations in Eif3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Eif3l APN 15 79076920 missense possibly damaging 0.82
IGL02457:Eif3l APN 15 79078096 missense probably benign 0.01
IGL02658:Eif3l APN 15 79076942 missense probably damaging 1.00
IGL02797:Eif3l APN 15 79075277 missense probably benign 0.00
IGL02824:Eif3l APN 15 79075823 splice site probably null
IGL02957:Eif3l APN 15 79089828 missense probably benign 0.00
IGL03352:Eif3l APN 15 79077051 unclassified probably benign
R0528:Eif3l UTSW 15 79089609 missense probably benign 0.00
R0550:Eif3l UTSW 15 79076867 missense probably damaging 1.00
R0751:Eif3l UTSW 15 79075766 splice site probably null
R1101:Eif3l UTSW 15 79075267 missense probably damaging 1.00
R1184:Eif3l UTSW 15 79075766 splice site probably null
R1585:Eif3l UTSW 15 79084181 missense possibly damaging 0.63
R1895:Eif3l UTSW 15 79089477 missense possibly damaging 0.55
R2442:Eif3l UTSW 15 79085607 missense probably damaging 1.00
R4865:Eif3l UTSW 15 79081649 nonsense probably null
R5092:Eif3l UTSW 15 79084154 missense probably benign 0.01
R5239:Eif3l UTSW 15 79089795 missense possibly damaging 0.95
R5328:Eif3l UTSW 15 79093361 nonsense probably null
R6575:Eif3l UTSW 15 79086578 missense possibly damaging 0.67
R6624:Eif3l UTSW 15 79089929 missense probably damaging 1.00
R6875:Eif3l UTSW 15 79085560 missense probably damaging 0.99
R7484:Eif3l UTSW 15 79084136 missense probably benign 0.00
Posted On2015-04-16