Incidental Mutation 'IGL01082:Eif3d'
ID 52779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3d
Ensembl Gene ENSMUSG00000016554
Gene Name eukaryotic translation initiation factor 3, subunit D
Synonyms 66/67kDa, eIF3p66, mouse translation initiation factor eIF3 p66, Eif3s7
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL01082
Quality Score
Status
Chromosome 15
Chromosomal Location 77843201-77855006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77843943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 468 (T468A)
Ref Sequence ENSEMBL: ENSMUSP00000098053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016696] [ENSMUST00000100484] [ENSMUST00000117725]
AlphaFold O70194
Predicted Effect probably benign
Transcript: ENSMUST00000016696
SMART Domains Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pyr_redox_2 22 243 2.9e-11 PFAM
Pfam:Pyr_redox_3 25 240 9.3e-35 PFAM
Pfam:NAD_binding_8 26 84 3.3e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100484
AA Change: T468A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554
AA Change: T468A

DomainStartEndE-ValueType
Pfam:eIF-3_zeta 4 521 6.3e-220 PFAM
low complexity region 530 547 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117725
SMART Domains Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pyr_redox_2 23 478 3.4e-9 PFAM
Pfam:Pyr_redox_3 25 240 6.2e-37 PFAM
Pfam:NAD_binding_8 26 90 4.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229824
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,353,273 (GRCm39) S723F probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Ccdc116 A G 16: 16,959,856 (GRCm39) S278P probably damaging Het
Cep152 A T 2: 125,411,465 (GRCm39) probably benign Het
Cftr T C 6: 18,226,102 (GRCm39) V350A probably damaging Het
Dsc2 A T 18: 20,176,849 (GRCm39) N399K probably damaging Het
Fam110b C T 4: 5,799,461 (GRCm39) A293V possibly damaging Het
Flrt1 T C 19: 7,073,339 (GRCm39) T403A probably benign Het
H3c6 A G 13: 23,746,548 (GRCm39) probably benign Het
Ift140 T A 17: 25,267,429 (GRCm39) V609E possibly damaging Het
Klb G A 5: 65,533,283 (GRCm39) V531I possibly damaging Het
Krt73 T C 15: 101,707,372 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,859 (GRCm39) V539A probably benign Het
Myb A G 10: 21,028,843 (GRCm39) V85A probably damaging Het
Ndufs1 T C 1: 63,203,976 (GRCm39) E102G probably damaging Het
Nr5a2 C A 1: 136,773,206 (GRCm39) A499S probably benign Het
Opa1 A T 16: 29,436,933 (GRCm39) probably benign Het
Or14j5 T A 17: 38,161,514 (GRCm39) S10R probably benign Het
Or4a47 A T 2: 89,674,407 (GRCm39) probably benign Het
Or4c11b T C 2: 88,625,637 (GRCm39) F304L probably benign Het
Pcnx1 G A 12: 82,037,372 (GRCm39) E1877K possibly damaging Het
Sel1l A G 12: 91,778,682 (GRCm39) V711A probably benign Het
Slc22a16 A G 10: 40,449,860 (GRCm39) T120A probably benign Het
Slc26a1 G T 5: 108,819,744 (GRCm39) T485N possibly damaging Het
Sp100 T C 1: 85,597,741 (GRCm39) V201A possibly damaging Het
Spz1 T G 13: 92,712,029 (GRCm39) K149T probably damaging Het
Stxbp5l A G 16: 37,024,940 (GRCm39) S553P possibly damaging Het
Szt2 A G 4: 118,254,821 (GRCm39) S290P probably damaging Het
Tbc1d10c A G 19: 4,239,026 (GRCm39) Y165H probably damaging Het
Tnxb C A 17: 34,933,584 (GRCm39) Q2335K probably damaging Het
Trim33 T C 3: 103,234,175 (GRCm39) I471T possibly damaging Het
Vsig10 A G 5: 117,472,970 (GRCm39) I188V probably benign Het
Zfp109 A T 7: 23,933,784 (GRCm39) L45Q probably damaging Het
Other mutations in Eif3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Eif3d APN 15 77,846,069 (GRCm39) missense probably benign
IGL01113:Eif3d APN 15 77,847,515 (GRCm39) missense probably damaging 1.00
IGL01865:Eif3d APN 15 77,851,546 (GRCm39) missense probably benign 0.34
IGL03070:Eif3d APN 15 77,843,843 (GRCm39) missense probably damaging 1.00
IGL03277:Eif3d APN 15 77,843,849 (GRCm39) missense possibly damaging 0.50
R0049:Eif3d UTSW 15 77,843,924 (GRCm39) missense probably benign 0.01
R0049:Eif3d UTSW 15 77,843,924 (GRCm39) missense probably benign 0.01
R0325:Eif3d UTSW 15 77,852,420 (GRCm39) missense probably damaging 1.00
R1346:Eif3d UTSW 15 77,852,754 (GRCm39) missense probably damaging 1.00
R2219:Eif3d UTSW 15 77,849,142 (GRCm39) missense probably benign 0.35
R2993:Eif3d UTSW 15 77,845,905 (GRCm39) missense possibly damaging 0.85
R3796:Eif3d UTSW 15 77,852,769 (GRCm39) missense probably damaging 1.00
R3797:Eif3d UTSW 15 77,852,769 (GRCm39) missense probably damaging 1.00
R3839:Eif3d UTSW 15 77,848,300 (GRCm39) missense probably benign 0.30
R4690:Eif3d UTSW 15 77,851,516 (GRCm39) missense probably benign 0.06
R4828:Eif3d UTSW 15 77,844,229 (GRCm39) nonsense probably null
R5411:Eif3d UTSW 15 77,843,887 (GRCm39) missense probably damaging 1.00
R5558:Eif3d UTSW 15 77,846,047 (GRCm39) missense probably damaging 1.00
R6764:Eif3d UTSW 15 77,845,886 (GRCm39) missense probably damaging 1.00
R6821:Eif3d UTSW 15 77,845,855 (GRCm39) missense possibly damaging 0.93
R7176:Eif3d UTSW 15 77,847,434 (GRCm39) missense probably damaging 1.00
R7322:Eif3d UTSW 15 77,845,876 (GRCm39) missense probably benign 0.36
R7616:Eif3d UTSW 15 77,845,886 (GRCm39) missense probably damaging 1.00
R8199:Eif3d UTSW 15 77,844,292 (GRCm39) missense possibly damaging 0.66
R9457:Eif3d UTSW 15 77,843,894 (GRCm39) missense probably benign 0.00
R9553:Eif3d UTSW 15 77,843,837 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-21