Incidental Mutation 'IGL01082:Eif3d'
ID52779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3d
Ensembl Gene ENSMUSG00000016554
Gene Nameeukaryotic translation initiation factor 3, subunit D
SynonymsEif3s7, eIF3p66, 66/67kDa, mouse translation initiation factor eIF3 p66
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL01082
Quality Score
Status
Chromosome15
Chromosomal Location77958998-77970813 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77959743 bp
ZygosityHeterozygous
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]
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: ENSMUST00000229824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230711
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: 71,314,114 S723F probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Ccdc116 A G 16: 17,141,992 S278P probably damaging Het
Cep152 A T 2: 125,569,545 probably benign Het
Cftr T C 6: 18,226,103 V350A probably damaging Het
Dsc2 A T 18: 20,043,792 N399K probably damaging Het
Fam110b C T 4: 5,799,461 A293V possibly damaging Het
Flrt1 T C 19: 7,095,974 T403A probably benign Het
Hist1h3e A G 13: 23,562,374 probably benign Het
Ift140 T A 17: 25,048,455 V609E possibly damaging Het
Klb G A 5: 65,375,940 V531I possibly damaging Het
Krt73 T C 15: 101,798,937 probably null Het
Mcm2 A G 6: 88,887,877 V539A probably benign Het
Myb A G 10: 21,152,944 V85A probably damaging Het
Ndufs1 T C 1: 63,164,817 E102G probably damaging Het
Nr5a2 C A 1: 136,845,468 A499S probably benign Het
Olfr1201 T C 2: 88,795,293 F304L probably benign Het
Olfr1256 A T 2: 89,844,063 probably benign Het
Olfr126 T A 17: 37,850,623 S10R probably benign Het
Opa1 A T 16: 29,618,115 probably benign Het
Pcnx G A 12: 81,990,598 E1877K possibly damaging Het
Sel1l A G 12: 91,811,908 V711A probably benign Het
Slc22a16 A G 10: 40,573,864 T120A probably benign Het
Slc26a1 G T 5: 108,671,878 T485N possibly damaging Het
Sp100 T C 1: 85,670,020 V201A possibly damaging Het
Spz1 T G 13: 92,575,521 K149T probably damaging Het
Stxbp5l A G 16: 37,204,578 S553P possibly damaging Het
Szt2 A G 4: 118,397,624 S290P probably damaging Het
Tbc1d10c A G 19: 4,189,027 Y165H probably damaging Het
Tnxb C A 17: 34,714,610 Q2335K probably damaging Het
Trim33 T C 3: 103,326,859 I471T possibly damaging Het
Vsig10 A G 5: 117,334,905 I188V probably benign Het
Zfp109 A T 7: 24,234,359 L45Q probably damaging Het
Other mutations in Eif3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Eif3d APN 15 77961869 missense probably benign
IGL01113:Eif3d APN 15 77963315 missense probably damaging 1.00
IGL01865:Eif3d APN 15 77967346 missense probably benign 0.34
IGL03070:Eif3d APN 15 77959643 missense probably damaging 1.00
IGL03277:Eif3d APN 15 77959649 missense possibly damaging 0.50
R0049:Eif3d UTSW 15 77959724 missense probably benign 0.01
R0049:Eif3d UTSW 15 77959724 missense probably benign 0.01
R0325:Eif3d UTSW 15 77968220 missense probably damaging 1.00
R1346:Eif3d UTSW 15 77968554 missense probably damaging 1.00
R2219:Eif3d UTSW 15 77964942 missense probably benign 0.35
R2993:Eif3d UTSW 15 77961705 missense possibly damaging 0.85
R3796:Eif3d UTSW 15 77968569 missense probably damaging 1.00
R3797:Eif3d UTSW 15 77968569 missense probably damaging 1.00
R3839:Eif3d UTSW 15 77964100 missense probably benign 0.30
R4690:Eif3d UTSW 15 77967316 missense probably benign 0.06
R4828:Eif3d UTSW 15 77960029 nonsense probably null
R5411:Eif3d UTSW 15 77959687 missense probably damaging 1.00
R5558:Eif3d UTSW 15 77961847 missense probably damaging 1.00
R6764:Eif3d UTSW 15 77961686 missense probably damaging 1.00
R6821:Eif3d UTSW 15 77961655 missense possibly damaging 0.93
R7176:Eif3d UTSW 15 77963234 missense probably damaging 1.00
R7322:Eif3d UTSW 15 77961676 missense probably benign 0.36
R7616:Eif3d UTSW 15 77961686 missense probably damaging 1.00
R8199:Eif3d UTSW 15 77960092 missense possibly damaging 0.66
Posted On2013-06-21