Incidental Mutation 'IGL01087:Eif3b'
ID51076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3b
Ensembl Gene ENSMUSG00000056076
Gene Nameeukaryotic translation initiation factor 3, subunit B
SynonymsEif3s9, EIF3-P116, D5Wsu45e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01087
Quality Score
Status
Chromosome5
Chromosomal Location140419328-140443360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140441107 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 706 (I706T)
Ref Sequence ENSEMBL: ENSMUSP00000098076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100507] [ENSMUST00000197549]
Predicted Effect probably damaging
Transcript: ENSMUST00000100507
AA Change: I706T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098076
Gene: ENSMUSG00000056076
AA Change: I706T

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
RRM 175 253 4.14e-7 SMART
Blast:WD40 317 350 4e-7 BLAST
Blast:WD40 354 397 2e-7 BLAST
Pfam:eIF2A 496 691 1.3e-68 PFAM
low complexity region 700 719 N/A INTRINSIC
low complexity region 784 797 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197549
Predicted Effect unknown
Transcript: ENSMUST00000199377
AA Change: I77T
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous embryos die prenatally prior to the blastocyst stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,162,788 probably null Het
Abca6 C A 11: 110,191,650 A1166S probably benign Het
Arhgdib C A 6: 136,933,624 K46N probably damaging Het
Ash1l T A 3: 89,063,902 V2507D probably damaging Het
B4galnt1 A T 10: 127,166,191 I63F probably damaging Het
Bclaf1 A G 10: 20,325,310 D394G probably damaging Het
Btbd10 T C 7: 113,316,556 D442G probably damaging Het
Cd44 A T 2: 102,822,262 L492H probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chsy1 T G 7: 66,172,126 V703G possibly damaging Het
Clrn2 T C 5: 45,463,969 probably benign Het
Crtc3 T C 7: 80,598,739 probably benign Het
Cul1 A G 6: 47,509,044 T342A probably benign Het
Dgki T C 6: 37,012,911 D631G probably damaging Het
Fam120a A G 13: 48,902,073 L713P probably damaging Het
I830077J02Rik C A 3: 105,928,733 probably null Het
Jmjd8 A C 17: 25,829,171 probably benign Het
Kmt5a T C 5: 124,451,380 probably benign Het
Krt87 C A 15: 101,431,825 C486F probably benign Het
Lrp2 A T 2: 69,524,073 N470K probably damaging Het
Med1 C A 11: 98,180,285 D79Y probably damaging Het
Myo1d A G 11: 80,682,435 S189P probably damaging Het
Myo9a T A 9: 59,790,078 Y381N possibly damaging Het
Nipbl C A 15: 8,350,497 S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 noncoding transcript Het
Nutm2 A G 13: 50,469,629 T121A probably damaging Het
Olfr93 C T 17: 37,151,441 C177Y probably damaging Het
Opa1 C T 16: 29,586,997 P127S probably damaging Het
Pcdh15 A T 10: 74,342,632 I574F possibly damaging Het
Pcnx G A 12: 81,995,339 probably benign Het
Prex2 A G 1: 11,068,104 T136A probably benign Het
Prph2 A G 17: 46,911,159 T155A probably damaging Het
Rsl1d1 T C 16: 11,194,675 K296E possibly damaging Het
Syne1 A T 10: 5,425,708 I128N probably damaging Het
Tlk1 A T 2: 70,752,316 N156K possibly damaging Het
Trem2 C T 17: 48,351,928 T222I probably damaging Het
Trip12 A T 1: 84,757,859 F872L probably damaging Het
Trrap T A 5: 144,846,539 S3393T probably damaging Het
Vwa8 T A 14: 78,935,229 S304T probably benign Het
Zc3h7a T C 16: 11,153,182 T328A probably benign Het
Other mutations in Eif3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Eif3b APN 5 140441740 missense possibly damaging 0.77
IGL01539:Eif3b APN 5 140430253 splice site probably benign
IGL01897:Eif3b APN 5 140425447 missense possibly damaging 0.69
IGL02166:Eif3b APN 5 140439950 missense possibly damaging 0.72
IGL02169:Eif3b APN 5 140430081 missense possibly damaging 0.92
hangman UTSW 5 140419837 splice site probably benign
hemp UTSW 5 140425322 missense probably damaging 0.97
R0783:Eif3b UTSW 5 140419837 splice site probably benign
R1727:Eif3b UTSW 5 140425322 missense probably damaging 0.97
R1909:Eif3b UTSW 5 140432937 missense probably damaging 1.00
R2062:Eif3b UTSW 5 140426453 missense probably damaging 1.00
R2258:Eif3b UTSW 5 140427503 missense possibly damaging 0.79
R4738:Eif3b UTSW 5 140430078 missense probably benign 0.01
R4752:Eif3b UTSW 5 140441101 missense probably benign 0.08
R4774:Eif3b UTSW 5 140419500 missense probably benign
R5342:Eif3b UTSW 5 140425280 missense probably damaging 1.00
R5790:Eif3b UTSW 5 140442131 missense probably benign 0.42
R6286:Eif3b UTSW 5 140419811 missense probably damaging 0.99
R7027:Eif3b UTSW 5 140425288 missense probably damaging 0.99
Posted On2013-06-21