Incidental Mutation 'IGL02222:Eif3i'
ID285196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3i
Ensembl Gene ENSMUSG00000028798
Gene Nameeukaryotic translation initiation factor 3, subunit I
SynonymsEif3s2, 36kDa, TRIP-1, D4Ertd632e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02222
Quality Score
Status
Chromosome4
Chromosomal Location129591960-129600648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129592088 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 315 (D315N)
Ref Sequence ENSEMBL: ENSMUSP00000099653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102593] [ENSMUST00000135055]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102593
AA Change: D315N

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: D315N

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
SMART Domains Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798

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: ENSMUST00000155428
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Eif3i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Eif3i APN 4 129595069 missense probably benign
IGL02975:Eif3i APN 4 129595312 missense probably damaging 0.99
R0683:Eif3i UTSW 4 129593535 missense probably benign 0.12
R0783:Eif3i UTSW 4 129592076 missense possibly damaging 0.85
R0920:Eif3i UTSW 4 129595257 splice site probably benign
R1251:Eif3i UTSW 4 129593385 missense probably damaging 1.00
R2132:Eif3i UTSW 4 129596926 missense probably benign 0.02
R2133:Eif3i UTSW 4 129596926 missense probably benign 0.02
R3978:Eif3i UTSW 4 129592336 missense probably damaging 1.00
R4781:Eif3i UTSW 4 129595273 missense probably benign 0.11
R4808:Eif3i UTSW 4 129592064 missense probably benign 0.15
R5096:Eif3i UTSW 4 129600444 missense probably damaging 0.97
R5335:Eif3i UTSW 4 129595186 missense probably benign 0.20
R6048:Eif3i UTSW 4 129593352 missense probably benign 0.01
R7087:Eif3i UTSW 4 129592311 missense probably damaging 1.00
R7503:Eif3i UTSW 4 129600414 missense probably damaging 0.97
RF012:Eif3i UTSW 4 129592079 missense probably damaging 1.00
RF019:Eif3i UTSW 4 129600465 missense probably damaging 1.00
Z1176:Eif3i UTSW 4 129600575 unclassified probably benign
Posted On2015-04-16