Incidental Mutation 'R2442:Eif3l'
ID 249837
Institutional Source Beutler Lab
Gene Symbol Eif3l
Ensembl Gene ENSMUSG00000033047
Gene Name eukaryotic translation initiation factor 3, subunit L
Synonyms Eif3s6ip, HSP-66Y, 0610011H21Rik, Eif3eip, PAF67, D15N1e
MMRRC Submission 040400-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R2442 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78959423-78978600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78969807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 268 (M268V)
Ref Sequence ENSEMBL: ENSMUSP00000038839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040518]
AlphaFold Q8QZY1
Predicted Effect probably damaging
Transcript: ENSMUST00000040518
AA Change: M268V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038839
Gene: ENSMUSG00000033047
AA Change: M268V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,606 (GRCm39) V256A probably benign Het
Acap1 T C 11: 69,780,317 (GRCm39) N42S possibly damaging Het
Apoo-ps C A 13: 107,551,140 (GRCm39) noncoding transcript Het
Bri3 C T 5: 144,181,411 (GRCm39) T39I probably benign Het
Bsn A G 9: 107,984,119 (GRCm39) S3312P unknown Het
Camkmt C A 17: 85,398,203 (GRCm39) A17E possibly damaging Het
Cc2d2a G T 5: 43,828,647 (GRCm39) probably null Het
Ccdc122 G T 14: 77,329,398 (GRCm39) M150I possibly damaging Het
Celf4 A G 18: 25,886,516 (GRCm39) F57L probably damaging Het
Cep192 T A 18: 67,957,759 (GRCm39) F564Y possibly damaging Het
Ces1c T C 8: 93,849,840 (GRCm39) D38G probably damaging Het
Cts7 C A 13: 61,503,431 (GRCm39) G178* probably null Het
Dcc A T 18: 71,589,954 (GRCm39) Y681N probably damaging Het
Dhx29 A G 13: 113,083,508 (GRCm39) E521G possibly damaging Het
Dnase2a T C 8: 85,635,622 (GRCm39) V35A probably damaging Het
Foxc1 A G 13: 31,992,781 (GRCm39) M531V unknown Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Ifit1bl1 G A 19: 34,572,289 (GRCm39) A56V probably benign Het
Iqsec1 T C 6: 90,666,865 (GRCm39) E524G possibly damaging Het
Kcnt2 A G 1: 140,304,091 (GRCm39) I154V possibly damaging Het
Kdm1b T A 13: 47,216,451 (GRCm39) Y274N probably benign Het
Kntc1 T A 5: 123,948,922 (GRCm39) L1889Q probably damaging Het
Lama1 A G 17: 68,075,312 (GRCm39) T1010A probably benign Het
Mmp11 T C 10: 75,763,079 (GRCm39) N171S probably benign Het
Myom1 A G 17: 71,417,730 (GRCm39) E1409G probably damaging Het
N4bp1 A G 8: 87,588,668 (GRCm39) I90T probably damaging Het
Or4c52 T C 2: 89,845,685 (GRCm39) V137A probably benign Het
Plcb4 T C 2: 135,792,302 (GRCm39) S342P probably damaging Het
Plg A G 17: 12,629,847 (GRCm39) E627G probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc7a14 A G 3: 31,284,469 (GRCm39) I289T probably damaging Het
Srpra G A 9: 35,123,297 (GRCm39) G43S possibly damaging Het
Tbc1d9 T C 8: 83,892,705 (GRCm39) M1T probably null Het
Tcte2 A T 17: 13,934,339 (GRCm39) I90N possibly damaging Het
Trim30c G A 7: 104,031,481 (GRCm39) P445S probably damaging Het
Trrap A G 5: 144,754,776 (GRCm39) Q1984R probably damaging Het
Ubn2 T C 6: 38,467,940 (GRCm39) S885P probably benign Het
Unc45a A G 7: 79,989,417 (GRCm39) F17S probably damaging Het
Uts2b C T 16: 27,179,782 (GRCm39) V75I probably benign Het
Vmn2r103 A G 17: 19,993,793 (GRCm39) K57E probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Other mutations in Eif3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Eif3l APN 15 78,961,120 (GRCm39) missense possibly damaging 0.82
IGL02457:Eif3l APN 15 78,962,296 (GRCm39) missense probably benign 0.01
IGL02658:Eif3l APN 15 78,961,142 (GRCm39) missense probably damaging 1.00
IGL02689:Eif3l APN 15 78,970,719 (GRCm39) missense possibly damaging 0.77
IGL02797:Eif3l APN 15 78,959,477 (GRCm39) missense probably benign 0.00
IGL02824:Eif3l APN 15 78,960,023 (GRCm39) splice site probably null
IGL02957:Eif3l APN 15 78,974,028 (GRCm39) missense probably benign 0.00
IGL03352:Eif3l APN 15 78,961,251 (GRCm39) unclassified probably benign
R0528:Eif3l UTSW 15 78,973,809 (GRCm39) missense probably benign 0.00
R0550:Eif3l UTSW 15 78,961,067 (GRCm39) missense probably damaging 1.00
R0751:Eif3l UTSW 15 78,959,966 (GRCm39) splice site probably null
R1101:Eif3l UTSW 15 78,959,467 (GRCm39) missense probably damaging 1.00
R1184:Eif3l UTSW 15 78,959,966 (GRCm39) splice site probably null
R1585:Eif3l UTSW 15 78,968,381 (GRCm39) missense possibly damaging 0.63
R1895:Eif3l UTSW 15 78,973,677 (GRCm39) missense possibly damaging 0.55
R4865:Eif3l UTSW 15 78,965,849 (GRCm39) nonsense probably null
R5092:Eif3l UTSW 15 78,968,354 (GRCm39) missense probably benign 0.01
R5239:Eif3l UTSW 15 78,973,995 (GRCm39) missense possibly damaging 0.95
R5328:Eif3l UTSW 15 78,977,561 (GRCm39) nonsense probably null
R6575:Eif3l UTSW 15 78,970,778 (GRCm39) missense possibly damaging 0.67
R6624:Eif3l UTSW 15 78,974,129 (GRCm39) missense probably damaging 1.00
R6875:Eif3l UTSW 15 78,969,760 (GRCm39) missense probably damaging 0.99
R7484:Eif3l UTSW 15 78,968,336 (GRCm39) missense probably benign 0.00
R7838:Eif3l UTSW 15 78,973,799 (GRCm39) missense possibly damaging 0.91
R7841:Eif3l UTSW 15 78,973,779 (GRCm39) missense probably benign 0.05
R8085:Eif3l UTSW 15 78,961,066 (GRCm39) missense probably damaging 0.99
R8296:Eif3l UTSW 15 78,963,220 (GRCm39) missense possibly damaging 0.82
R8440:Eif3l UTSW 15 78,961,120 (GRCm39) missense possibly damaging 0.82
R8932:Eif3l UTSW 15 78,960,006 (GRCm39) nonsense probably null
R9011:Eif3l UTSW 15 78,973,725 (GRCm39) missense possibly damaging 0.85
R9029:Eif3l UTSW 15 78,968,412 (GRCm39) missense probably damaging 1.00
R9324:Eif3l UTSW 15 78,978,423 (GRCm39) missense probably benign 0.11
R9473:Eif3l UTSW 15 78,970,704 (GRCm39) missense probably damaging 0.97
R9614:Eif3l UTSW 15 78,978,423 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ATGCTTGAGACTCCTGGGTAG -3'
(R):5'- ATCCTGTGCAGACTCCTCAAG -3'

Sequencing Primer
(F):5'- CTCCTGGGTAGGGGTAAAGTG -3'
(R):5'- AAGCTCGACCCTGTCTGC -3'
Posted On 2014-11-12