Incidental Mutation 'IGL01087:Eif3b'
ID 51076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3b
Ensembl Gene ENSMUSG00000056076
Gene Name eukaryotic translation initiation factor 3, subunit B
Synonyms EIF3-P116, Eif3s9, D5Wsu45e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01087
Quality Score
Status
Chromosome 5
Chromosomal Location 140405083-140429115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140426862 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8JZQ9
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: 83,139,770 (GRCm39) probably null Het
Abca6 C A 11: 110,082,476 (GRCm39) A1166S probably benign Het
Arhgdib C A 6: 136,910,622 (GRCm39) K46N probably damaging Het
Ash1l T A 3: 88,971,209 (GRCm39) V2507D probably damaging Het
B4galnt1 A T 10: 127,002,060 (GRCm39) I63F probably damaging Het
Bclaf1 A G 10: 20,201,056 (GRCm39) D394G probably damaging Het
Btbd10 T C 7: 112,915,763 (GRCm39) D442G probably damaging Het
Cd44 A T 2: 102,652,607 (GRCm39) L492H probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chsy1 T G 7: 65,821,874 (GRCm39) V703G possibly damaging Het
Clrn2 T C 5: 45,621,311 (GRCm39) probably benign Het
Crtc3 T C 7: 80,248,487 (GRCm39) probably benign Het
Cul1 A G 6: 47,485,978 (GRCm39) T342A probably benign Het
Dgki T C 6: 36,989,846 (GRCm39) D631G probably damaging Het
Fam120a A G 13: 49,055,549 (GRCm39) L713P probably damaging Het
I830077J02Rik C A 3: 105,836,049 (GRCm39) probably null Het
Jmjd8 A C 17: 26,048,145 (GRCm39) probably benign Het
Kmt5a T C 5: 124,589,443 (GRCm39) probably benign Het
Krt87 C A 15: 101,329,706 (GRCm39) C486F probably benign Het
Lrp2 A T 2: 69,354,417 (GRCm39) N470K probably damaging Het
Med1 C A 11: 98,071,111 (GRCm39) D79Y probably damaging Het
Myo1d A G 11: 80,573,261 (GRCm39) S189P probably damaging Het
Myo9a T A 9: 59,697,361 (GRCm39) Y381N possibly damaging Het
Nipbl C A 15: 8,379,981 (GRCm39) S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 (GRCm38) noncoding transcript Het
Nutm2 A G 13: 50,623,665 (GRCm39) T121A probably damaging Het
Opa1 C T 16: 29,405,815 (GRCm39) P127S probably damaging Het
Or2h1b C T 17: 37,462,332 (GRCm39) C177Y probably damaging Het
Pcdh15 A T 10: 74,178,464 (GRCm39) I574F possibly damaging Het
Pcnx1 G A 12: 82,042,113 (GRCm39) probably benign Het
Prex2 A G 1: 11,138,328 (GRCm39) T136A probably benign Het
Prph2 A G 17: 47,222,085 (GRCm39) T155A probably damaging Het
Rsl1d1 T C 16: 11,012,539 (GRCm39) K296E possibly damaging Het
Syne1 A T 10: 5,375,708 (GRCm39) I128N probably damaging Het
Tlk1 A T 2: 70,582,660 (GRCm39) N156K possibly damaging Het
Trem2 C T 17: 48,658,956 (GRCm39) T222I probably damaging Het
Trip12 A T 1: 84,735,580 (GRCm39) F872L probably damaging Het
Trrap T A 5: 144,783,349 (GRCm39) S3393T probably damaging Het
Vwa8 T A 14: 79,172,669 (GRCm39) S304T probably benign Het
Zc3h7a T C 16: 10,971,046 (GRCm39) T328A probably benign Het
Other mutations in Eif3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Eif3b APN 5 140,427,495 (GRCm39) missense possibly damaging 0.77
IGL01539:Eif3b APN 5 140,416,008 (GRCm39) splice site probably benign
IGL01897:Eif3b APN 5 140,411,202 (GRCm39) missense possibly damaging 0.69
IGL02166:Eif3b APN 5 140,425,705 (GRCm39) missense possibly damaging 0.72
IGL02169:Eif3b APN 5 140,415,836 (GRCm39) missense possibly damaging 0.92
hangman UTSW 5 140,405,592 (GRCm39) splice site probably benign
hemp UTSW 5 140,411,077 (GRCm39) missense probably damaging 0.97
R0783:Eif3b UTSW 5 140,405,592 (GRCm39) splice site probably benign
R1727:Eif3b UTSW 5 140,411,077 (GRCm39) missense probably damaging 0.97
R1909:Eif3b UTSW 5 140,418,692 (GRCm39) missense probably damaging 1.00
R2062:Eif3b UTSW 5 140,412,208 (GRCm39) missense probably damaging 1.00
R2258:Eif3b UTSW 5 140,413,258 (GRCm39) missense possibly damaging 0.79
R4738:Eif3b UTSW 5 140,415,833 (GRCm39) missense probably benign 0.01
R4752:Eif3b UTSW 5 140,426,856 (GRCm39) missense probably benign 0.08
R4774:Eif3b UTSW 5 140,405,255 (GRCm39) missense probably benign
R5342:Eif3b UTSW 5 140,411,035 (GRCm39) missense probably damaging 1.00
R5790:Eif3b UTSW 5 140,427,886 (GRCm39) missense probably benign 0.42
R6286:Eif3b UTSW 5 140,405,566 (GRCm39) missense probably damaging 0.99
R7027:Eif3b UTSW 5 140,411,043 (GRCm39) missense probably damaging 0.99
R7293:Eif3b UTSW 5 140,405,183 (GRCm39) missense probably benign
R7561:Eif3b UTSW 5 140,428,109 (GRCm39) missense probably benign 0.04
R7585:Eif3b UTSW 5 140,425,757 (GRCm39) missense probably damaging 1.00
R8170:Eif3b UTSW 5 140,412,530 (GRCm39) splice site probably null
R8853:Eif3b UTSW 5 140,425,774 (GRCm39) missense probably damaging 0.99
R8864:Eif3b UTSW 5 140,412,287 (GRCm39) missense probably benign 0.16
R8958:Eif3b UTSW 5 140,411,194 (GRCm39) missense probably benign 0.08
R9286:Eif3b UTSW 5 140,411,064 (GRCm39) missense probably benign
Z1177:Eif3b UTSW 5 140,415,883 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21