Incidental Mutation 'IGL01133:Eif3l'
ID52841
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: 0.974) question?
Stock #IGL01133
Quality Score
Status
Chromosome15
Chromosomal Location79075179-79094405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79076920 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 58 (Y58H)
Ref Sequence ENSEMBL: ENSMUSP00000038839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040518] [ENSMUST00000229310]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040518
AA Change: Y58H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038839
Gene: ENSMUSG00000033047
AA Change: Y58H

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:Paf67 152 550 7e-179 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229310
AA Change: Y34H

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229338
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,595,434 D486E probably damaging Het
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700007G11Rik T C 5: 98,498,381 probably null Het
Adam4 T C 12: 81,421,446 T134A possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
BC005561 A G 5: 104,517,662 T17A probably benign Het
Cartpt T G 13: 99,900,040 I67L probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ccer1 T C 10: 97,694,539 F355L probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap36 A C 11: 29,234,414 V114G probably damaging Het
Col4a3bp A G 13: 96,614,802 E320G probably damaging Het
Cyp2b9 G A 7: 26,210,235 G476D probably damaging Het
Gapvd1 T C 2: 34,725,398 Y411C probably damaging Het
Gm27029 G T 11: 101,411,960 F236L possibly damaging Het
Golga1 T C 2: 39,023,472 T501A probably benign Het
Heg1 C T 16: 33,727,287 H815Y probably benign Het
Krt1 A T 15: 101,848,193 D298E probably damaging Het
Mecr T A 4: 131,843,596 S32T probably benign Het
Med1 A T 11: 98,157,986 Y661* probably null Het
Olfr419 T C 1: 174,250,526 S134G probably benign Het
Pla2g12b G T 10: 59,416,417 A37S probably benign Het
Plekha7 G T 7: 116,145,241 probably null Het
Ralgapa1 T C 12: 55,642,348 I1989V probably damaging Het
Ralgapa1 T C 12: 55,642,359 H1938R probably damaging Het
Sec31b A G 19: 44,527,041 F309S probably damaging Het
Serpina3a T C 12: 104,121,499 I227T probably benign Het
Slc1a3 A G 15: 8,645,687 I278T probably damaging Het
Slc1a3 T C 15: 8,650,993 Y127C probably damaging Het
Spen T C 4: 141,489,901 K449R unknown Het
Tmem130 A G 5: 144,752,445 S129P probably damaging Het
Trim68 A T 7: 102,679,141 probably null Het
Vdac3-ps1 T C 13: 18,031,449 noncoding transcript Het
Vmn2r75 A G 7: 86,148,032 probably benign Het
Zbtb9 G T 17: 26,975,011 probably benign Het
Zfp568 T A 7: 29,987,808 probably null Het
Other mutations in Eif3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Eif3l APN 15 79078096 missense probably benign 0.01
IGL02658:Eif3l APN 15 79076942 missense probably damaging 1.00
IGL02689:Eif3l APN 15 79086519 missense possibly damaging 0.77
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
Posted On2013-06-21