Incidental Mutation 'IGL00981:Eif3i'
ID 27349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3i
Ensembl Gene ENSMUSG00000028798
Gene Name eukaryotic translation initiation factor 3, subunit I
Synonyms D4Ertd632e, Eif3s2, TRIP-1, 36kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL00981
Quality Score
Status
Chromosome 4
Chromosomal Location 129485767-129494441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129488862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 125 (Y125F)
Ref Sequence ENSEMBL: ENSMUSP00000120776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102593] [ENSMUST00000135055]
AlphaFold Q9QZD9
Predicted Effect probably benign
Transcript: ENSMUST00000102593
AA Change: Y173F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: Y173F

DomainStartEndE-ValueType
WD40 1 38 1.1e1 SMART
WD40 41 80 1.07e-8 SMART
WD40 135 174 3.84e0 SMART
WD40 177 216 6.63e-5 SMART
Blast:WD40 219 257 2e-18 BLAST
WD40 274 313 3.75e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135055
AA Change: Y125F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798
AA Change: Y125F

DomainStartEndE-ValueType
WD40 2 32 1.54e0 SMART
Blast:WD40 35 78 1e-9 BLAST
WD40 87 126 3.84e0 SMART
WD40 129 163 8.25e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155428
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,586,404 (GRCm39) Q478* probably null Het
Armh4 A T 14: 50,010,447 (GRCm39) L420Q probably damaging Het
Atp7b T C 8: 22,517,543 (GRCm39) probably null Het
Bcan T A 3: 87,905,139 (GRCm39) I2F possibly damaging Het
Boc A G 16: 44,312,164 (GRCm39) S633P probably damaging Het
C2cd6 A G 1: 59,117,104 (GRCm39) S130P probably damaging Het
Cacna1a T C 8: 85,275,182 (GRCm39) F490L probably damaging Het
Carm1 T A 9: 21,498,490 (GRCm39) D469E possibly damaging Het
Cdyl A T 13: 36,000,096 (GRCm39) S126C probably damaging Het
Ceacam5 A T 7: 17,479,458 (GRCm39) I192F probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dlgap5 C T 14: 47,635,925 (GRCm39) E515K probably damaging Het
Eif3a A T 19: 60,755,049 (GRCm39) D1044E unknown Het
Gnai1 T G 5: 18,472,045 (GRCm39) N346T probably benign Het
Kcnd1 C T X: 7,702,672 (GRCm39) T629I probably benign Het
Mcc A T 18: 44,582,416 (GRCm39) N578K probably damaging Het
Ncoa6 C T 2: 155,248,099 (GRCm39) R1735Q probably damaging Het
Nlrp4d A T 7: 10,116,021 (GRCm39) noncoding transcript Het
Nsun5 A T 5: 135,404,249 (GRCm39) Q352L possibly damaging Het
Or14j6 G A 17: 38,215,072 (GRCm39) V212M probably benign Het
Or2d2b C A 7: 106,705,268 (GRCm39) E267* probably null Het
Or2d2b T A 7: 106,705,269 (GRCm39) K266N probably benign Het
Or8g18 A G 9: 39,148,901 (GRCm39) V276A probably benign Het
Pkdrej C T 15: 85,703,857 (GRCm39) G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,990,566 (GRCm39) probably benign Het
Spink1 C T 18: 43,870,159 (GRCm39) probably null Het
Sqle T C 15: 59,198,468 (GRCm39) V464A probably damaging Het
Trav6-4 A T 14: 53,692,153 (GRCm39) T84S probably damaging Het
Trim33 T A 3: 103,259,311 (GRCm39) probably benign Het
Txlng T C X: 161,567,368 (GRCm39) M319V probably benign Het
Wee1 A T 7: 109,738,876 (GRCm39) E582D probably damaging Het
Other mutations in Eif3i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Eif3i APN 4 129,485,881 (GRCm39) missense possibly damaging 0.89
IGL02975:Eif3i APN 4 129,489,105 (GRCm39) missense probably damaging 0.99
R0683:Eif3i UTSW 4 129,487,328 (GRCm39) missense probably benign 0.12
R0783:Eif3i UTSW 4 129,485,869 (GRCm39) missense possibly damaging 0.85
R0920:Eif3i UTSW 4 129,489,050 (GRCm39) splice site probably benign
R1251:Eif3i UTSW 4 129,487,178 (GRCm39) missense probably damaging 1.00
R2132:Eif3i UTSW 4 129,490,719 (GRCm39) missense probably benign 0.02
R2133:Eif3i UTSW 4 129,490,719 (GRCm39) missense probably benign 0.02
R3978:Eif3i UTSW 4 129,486,129 (GRCm39) missense probably damaging 1.00
R4781:Eif3i UTSW 4 129,489,066 (GRCm39) missense probably benign 0.11
R4808:Eif3i UTSW 4 129,485,857 (GRCm39) missense probably benign 0.15
R5096:Eif3i UTSW 4 129,494,237 (GRCm39) missense probably damaging 0.97
R5335:Eif3i UTSW 4 129,488,979 (GRCm39) missense probably benign 0.20
R6048:Eif3i UTSW 4 129,487,145 (GRCm39) missense probably benign 0.01
R7087:Eif3i UTSW 4 129,486,104 (GRCm39) missense probably damaging 1.00
R7503:Eif3i UTSW 4 129,494,207 (GRCm39) missense probably damaging 0.97
R8798:Eif3i UTSW 4 129,490,717 (GRCm39) missense probably benign 0.00
R9652:Eif3i UTSW 4 129,489,094 (GRCm39) missense probably benign
RF012:Eif3i UTSW 4 129,485,872 (GRCm39) missense probably damaging 1.00
RF019:Eif3i UTSW 4 129,494,258 (GRCm39) missense probably damaging 1.00
Z1176:Eif3i UTSW 4 129,494,368 (GRCm39) unclassified probably benign
Posted On 2013-04-17