Incidental Mutation 'IGL00861:Eef1b2'
ID278035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1b2
Ensembl Gene ENSMUSG00000025967
Gene Nameeukaryotic translation elongation factor 1 beta 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00861
Quality Score
Status
Chromosome1
Chromosomal Location63176825-63180486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 63178506 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 91 (G91R)
Ref Sequence ENSEMBL: ENSMUSP00000116492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027108] [ENSMUST00000027111] [ENSMUST00000050536] [ENSMUST00000129339] [ENSMUST00000135877] [ENSMUST00000142062] [ENSMUST00000168099] [ENSMUST00000188524] [ENSMUST00000174890] [ENSMUST00000185412] [ENSMUST00000189664] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188370]
Predicted Effect probably benign
Transcript: ENSMUST00000027108
Predicted Effect probably benign
Transcript: ENSMUST00000027111
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 8.5e-20 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:NADH_dhqG_C 658 710 1.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050536
SMART Domains Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856

DomainStartEndE-ValueType
Pfam:7tm_1 55 302 3.9e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126469
Predicted Effect probably benign
Transcript: ENSMUST00000126795
SMART Domains Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967

DomainStartEndE-ValueType
SCOP:d1aw9_1 4 62 8e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129339
AA Change: G91R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967
AA Change: G91R

DomainStartEndE-ValueType
EF-1_beta_acid 103 130 2.53e-4 SMART
EF1_GNE 139 225 3.86e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135877
SMART Domains Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140612
Predicted Effect probably benign
Transcript: ENSMUST00000142062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148553
Predicted Effect probably benign
Transcript: ENSMUST00000168099
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.3e-19 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:DUF1982 657 710 3.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188524
AA Change: G50R

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967
AA Change: G50R

DomainStartEndE-ValueType
EF-1_beta_acid 62 89 1.2e-8 SMART
EF1_GNE 98 184 2.9e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199062
Predicted Effect probably benign
Transcript: ENSMUST00000174890
SMART Domains Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967

DomainStartEndE-ValueType
Blast:WHEP 3 64 3e-6 BLAST
SCOP:d1aw9_1 7 65 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185412
SMART Domains Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 79 5.3e-10 PFAM
Pfam:Fer2 34 79 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189664
Predicted Effect probably benign
Transcript: ENSMUST00000185732
SMART Domains Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.4e-18 PFAM
Pfam:Fer2 34 97 6.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185847
SMART Domains Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Molybdopterin 1 60 5.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188370
SMART Domains Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 96 1.1e-13 PFAM
Pfam:Fer2 34 127 1.2e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Eef1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Eef1b2 APN 1 63178506 missense probably damaging 1.00
IGL00862:Eef1b2 APN 1 63178506 missense probably damaging 1.00
IGL00863:Eef1b2 APN 1 63178506 missense probably damaging 1.00
IGL01642:Eef1b2 APN 1 63177831 missense probably damaging 1.00
R1127:Eef1b2 UTSW 1 63179457 critical splice acceptor site probably null
R1210:Eef1b2 UTSW 1 63177273 missense probably damaging 1.00
R1909:Eef1b2 UTSW 1 63177272 missense probably damaging 0.99
R2045:Eef1b2 UTSW 1 63179487 nonsense probably null
R5129:Eef1b2 UTSW 1 63179580 missense probably damaging 0.96
R6847:Eef1b2 UTSW 1 63178489 missense probably benign 0.32
R7748:Eef1b2 UTSW 1 63177865 missense probably damaging 0.99
Posted On2015-04-16